Deficiency in adenosine deaminase

PPAC

Blue-white-red vasomotor dermatosis

BASCULE syndrome

Cervical cleft, medial, congenital

Laryngeal cleft

Congenital airway malformation

Alveolar capillary dysplasia, congenital with misalignment of pulmonary veins

Restrictive dermopathy

Anoxic reflex convulsions

Paraspinal arteriovenous fistula

Congenital methemoglobinias

Short stature with immunodeficiency

DICS

Dieulafoy ulcer

ADA deficiency

Immune deficiency with deficiency in adenosine deaminase

Immune deficiencies (combined severe)

Meyer-Betz, syndrome

Multiple glomic tumors

Venous malformations with glomus cells

Glycogenosis type X

Hereditary multiple glomangiomas

Glomangiomatosis

Glomuvenous malformation

Glycogenosis type XIII

Troyer syndrome

DICS: alymphocytic type

LCA

Hemoglobin Bristol

Hemoglobin Alesha

Constrictive pericarditis

Hyalinosis: systemic, infantile

Juvenile hyaline fibromatosis

Pericardial effusion

Oculo-cutaneous albinism

Dystonia: myoclonic familial DYT11

Myoclonic familial dystonia DYT11

Meige, syndrome

Meige's dystonia

Laron-like syndrome

Dystonias: idiopathic familial

Transdural medullary hernia

Scurvy

Vitamin C deficiency

Hemoglobin M-Akita

Hemoglobin M-Milwaukee-2

Hemoglobin M-Hyde-Park

OOFD syndrome

Choanal atresia-deafness-cardiopathy-craniofacial dysmorphism, syndrome

Burn-McKeown, syndrome

DCWHK type II

DCWHK type I

Arrhythmogenic right ventricular cardiomyopathy

ROSAH, syndrome

Idiopathic familial dystonias

Bart-Pumphrey syndrome

Glycogenosis type XII

Branchio-oculo-facial, syndrome

Eisenmenger, syndrome

Deficiency in phosphoglucomutase 1

Deficiency in T2

Deficiency in  mitochondrial acetyl-CoA thiolase

X-linked intellectual deficit: South Africa type

X-linked intellectal deficit - craniofacial anomalies - epilepsy - ophthalmoplegia - cerebellous atrophy

Aciduria: alpha-methylaceto-acetic

Deficiency in beta-cetothiolase

Christianson, syndrome

Binswanger, syndrome

Linear IgA bullous dermatosis

CARASIL

Congenital visceral myopathy

Mungan syndrome

Hepatic tumors

Bridges and Good syndrome

Septic chronic granulomatosis

Chronic granulomatosis

Epiglottis: aplasia, hypoplasia

Plastic bronchitis

Undifferentiated embryonal sarcoma of the liver

Hepatic focal nodular hyperplasia

Hepatocarcinoma

Hepatoblastoma

DNAJC12 deficiency

Tapia syndrome

Scalp - ears - nipples, syndrome

Fynlay-Marks, syndrome

SEN syndrome

SCALP syndrome

Molybdenum cofactor, deficiency in

MoCD

MOCOD

Deficiency in sulfite oxidase

Xanthinuries héréditaires

Solomon syndrome

Linear sebaceous nevus, syndrome

BOFS

Jadassohn, nevus of

Laryngeal papillomatosis

Vici-Sabette-Gambarara syndrome

Vici syndrome

JME

Janz, syndrome

Juvenile myoclonic epilepsy

ADNFLE

Epilepsy infantile multifocal severe

Epilepsy: frontal nocturnal familial autosomal dominant

Short anagen hair syndrome

ISSD

Berry, syndrome

Salla disease

Schimmelpenning-Feuerstein-Mims syndrome

Glutaryl-CoaA dehydrogenase, deficiency in

Hemoglobin F-Toms River

Fraccaro-Schmid, syndrome

Dysplasia: cranio-ectodermic

Sensenbrenner syndrome

Richieri-Costa Pereira syndrome

RHYNS syndrome

Cogan type II, syndrome

Cogan, syndrome

Boichis-Loken, syndrome

Boichis, syndrome

Arima syndrome

Fibromatoses (infant)

Glutathion-synthetase, deficiency in

Lhermitte-Duclos, disease

Glucose-6-phosphate translocase, deficiency in

Glucose-6-phosphate-dehydrogenase (G6PD), deficiency in

Glucocorticoids, deficiency in

Fructose-1-phosphatase aldolase, deficiency

Creatine, deficiency in

Copper, X-linked deficiency in

Carnitine-acylcarnitine translocase, deficiency in

Carnitine, deficiency in

CACT, deficiency in

C1 esterase, deficiency in

Biotinidase, deficiency in

Beta-cetothiolase, deficiency in

Hemoglobin Milwaukee

Medullary sponge kidney

Visceral leiomyopathy: known as 'Bantous or African leiomyopathy'

Refetoff, syndrome de

Epidermic toxic necrolysis

Malacoplakia

Hypothyroidism: congenital or acquired

Gorlin-Chaudry-Moss, syndrome

Cretinism

Cloverleaf skull, syndrome

Acute steatosis of pregnancy 

Ataxia, spastic, Charlevoix-Saguenay type

ARSACS

Biickerstaff post-infectious rhomboencephalitis

Rabson-Mendenhall, syndrome

Aminoacylase 2, deficiency in

Mendenhall, syndrome

Cacchi-Ricci, disease

Encephalopathy by deficiency in GLUT-1

Donohue, syndrome

Leprechaunism

HAIR-AN, syndrome

De Vivo, syndrome

Deficiency in GLUT-1

Amyloïdosis: portuguese

Amyloidosis: hereditary

Familial amyloid polyneuropathy

Myofibromatosis: infantile

Moschcowitz, disease

Hemoglobin FM-Viseu

Intestinal polyposis: juvenile

Cleidocranial dysplasia

Microdeletion 6p

Lithopedion

Koolen-de Vries syndrome

Alimentary allergy to alpha-gal

Alpha-gal syndrome

Iris sphincter agenesis

Paraneoplastic encephalitis

EIEE

Sexual ambiguity

ATP synthase, deficiency in

5-alpha reductase deficiency

Cystathionine-beta-synthase, deficiency in

Hemoglobin F-Sarajevo

Hemoglobin Constant Spring

Hemoglobin Chico

Small bowel atresia and stenoses

Kamouraska syndrome

MEDNIK syndrome

Malan syndrome

Dexamethasone-sensitive hypertension

Hyperaldosteronism, primary familial

CEDNIK syndrome

Papillomatosis, laryngeal

von Meyenburg complex disease

Sex development disorders

Thoraco-laryngo-pelvic dysplasia

Al-Gazali syndrome

Adenosine deaminase, deficiency in

11-B-hydroxysteroid déhydrogenase cortisol, deficiency in

Acyl-CoA dehydrogenase, multiple deficiency in

Hypoxanthine-guanine-phosphoribosyltransferase, complete deficiency in

Cyclops

Cyclocephaly

Oropharyngeal stenosis: acquired

GM2 gangliosidoses

Retrotracheal left pulmonary artery

Jackson-Weiss, syndrome

Bridging bronchus

Juvenile intestinal polyposis

Yunis-Varon syndrome

Solomon-Fretsin syndrome

Barnes syndrome

Nephrotic with adrenal failure, syndrome

Nephrotic type 14 syndrome

Nephropathy with pretibial epidermolysis bullosa and deafness

Junctional epidermolysis bullosa with pulmonary and renal involvement

ILNEB

GLUT-1 deficiency

Coenzyme Q, deficiency in

Deficiency in Coenzyme Q

Ductus arteriosus aneurysm

Deficiency in cystathionine-beta-synthase

Aspartoacylase, deficiency in

Cleidocranial dysplasia with micrognathia, absence of thumbs and distal phalanges

Silver-Russell syndrome

Vitamin B12 congenital deficiency

Steinert disease or dystrophy

Startle disease

Sphingomyelinase, deficiency in

Fabry hereditary sphingolipidosis

Spherophakia-brachymorphism syndrome

Sotos syndrome

Smith-Lemli-Opitz syndrome

Sly syndrome

Sjögren-Larsson syndrome

Maple syrup disease, maple syrup urine disease

Sturge-Weber-Christian disease 

Simpson-Golabi-Behmel syndrome

Catecholaminergic polymorphic ventricular tachycardia

Whistler syndrome

Sickle cell disease

Sialidosis

Shy-McGee syndrome

Shwachman-Diamond syndrome

Woolly hair - palmoplantar hyperkeratosis - dilated cardiomyopathy, syndrome

Neuhauser anomaly

Martin Bell, syndrome

Meckel-Gruber, syndrome

Mevalonate kinase, deficiency

Multicore or multiminicore myopathy

Diabetes: early with multiple epiphyseal dysplasia

Sipple syndrome

Treacher-Collins syndrome

Liver hemangioendothelioma

Velocardiofacial syndrome

VATER or VACTERL association or syndrome 

Van der Woude syndrome

Pigmentary urticaria

Urbach-Wiethe disease

Tyrosinemia

Turner syndrome

Turcot syndrome

Trisomy 21

Trisomy 18

Stiff-baby syndrome

Trismus-pseudocamptodactyly syndrome

TIBOLA syndrome

Townes-Broks syndrome

Febrile infant torticollis

Toni-Debre-Fanconi syndrome

Tetraphocomelia-thrombocytopenia

Thomsen disease

Lipoid thesaurismosis

Teschler-Nicola-Killian syndrome

Hereditary hemorrhagic telangiectasis

Tay-Sachs disease

Taybi syndrome

TAR syndrome 

Tangier disease

Trisomy 13

PEP, syndrome

Dysplasia: frontonasal

Dysplasia: acro-dento-osseous

Dysostosis: spondylo-costal

Dysmorphism mandibulo-facial type François

Dyscephalic, syndrome

Di Mauro-Harlage, disease

De Toni-Debré-Fanconi, syndrome

Deletion 4p

Dekaban-Amira, syndrome

DDON syndrome (Deafness-Atonia-Optic Neuropathy)

Thalassemias

Dysostosis cleidocranial

Shimpo syndrome or disease

Schinzel syndrome: acro-callosal type

POEMS syndrome

Crow-Fukase syndrome

Cree, encephalitis

Coproporphyria: hereditary

Cooley, disease

Chronic Infantile Neurologic, Cutaneous Articular Syndrome

Ivemark type II, syndrome

Baraitser-Reardon, syndrome

Baraitser-Bett-Piesovicz, syndrome

TORCH complex or syndrome

Pseudo-TORCH, syndrome

Foreword

Takatsuki syndrome

Pulmonary interstitial glycogenosis

Cyclic vomiting syndrome

Hypotonia-cystinuria, syndrome

Deletion 2p21

DEBONEL, syndrome

Cystinuria

Craniosynostosis-radial aplasia, syndrome

Baller-Gerold, syndrome

Still disease

Focal dermal hypoplasia

Goltz, syndrome

Chauffard-Still, disease

Chauffard, disease

Dystrophinopathies

Juvenile polyarthritis

Cubito-mammary, syndrome

PIG

Myopathy: cardiosquelettic - neutropenia

Myopathy: X-linked cardiosquelettic

Pulmonary interstitial glycogenosis

Barth, syndrome

Aciduria: 3-méthylglutaconic type 2

Non-compaction of the left ventricle

Follicular keratosis

Darier-White, disease

Stickler syndrome

Schinzel syndrome

Dysplasia: cleidocranial

Arthritis: juvenile idiopathic

Savant syndrome

VLCADD

SBMA

MATD

Xq distal duplication

X-linked LUBS type intellectual deficit

X-linked intellectual deficit - hypotonia - intercurrent infections

Trisomy Xq28

PROS

Multiple endocrine neoplasias syndrome

Lubs-Arena syndrome

Labrune syndrome

Blood group Rhnull

Temple syndrome

LIG4 syndrome

Chitayat-Hall syndrome

Hyperthyroidism: familial non-immune

Non-immune familial hyperthyroidism

Apparent mineralocorticoids excess

Aciduria: 3-hydroxy-3-methylglutaric

Paramyotonia: congenital

Eulenburg, disease

King-Denborough, syndrome

Brody, disease

Brown-Vialetto-Van Laere, syndrome

Trimethylaminuria

Fishy smell syndrome

MECP2 duplication syndrome

Tetrahydrobiopterin, deficiency in

Fiessinger-Rendu pluriorificial erosive ectodermia

Hepatic adenoma

Gastro Intestinal Stromal Tumors

GIST

Frydman-Cohen-Karmon syndrome

Blepharophimosis - ptosis - inverted epicanthus, syndrome

Ankyloblepharon filiforme adnatum

ILFS3

ILFS2

ILFS1

CALFAN syndrome

Facial duplication

Acute infantile liver failure - cerebellar ataxia - sensitivomotor neuropathy, syndrome of

Simpson dysmorphism

Antrochoanal polyp

Pseudohypertriglyceridemia

Killian, polyp of

Congenital hypoplasia of the adrenals

Nasopharyngeal fibroma

Deletion Xp21, syndrome

Nasopharyngeal carcinoma

Dysanapsis

Danbolt-Closs syndrome

Enteropathic acrodermatitis

DNA ligase IV syndrome

Satoyoshi syndrome

Autosomal recessive cerebellar ataxia type 21

Wildervanck-Smith syndrome

Fragile X syndrome

Xeroderma pigmentosum

X0, syndrome

Worster-Drought syndrome

Wolfram syndrome

Wolff-Parkinson-White syndrome

Wolf-Hirschhorn syndrome

Wolcott-Rallison syndrome

Wohlfart-Kugelberg-Welander syndrome 

Wiskott-Aldrich syndrome

Wilson-Mikity syndrome

Papillon-League-Psaum, syndrome

Williams syndrome

Cherubism

Wiedemann-Beckwith syndrome

Whistling face syndrome

Wermer syndrome

Von Willebrand disease

Werdnig-Hoffmann disease

Weill-Marchesani syndrome

Weaver syndrome

Waardenburg syndrome

Walker-Warburg syndrome

WAGR syndrome 

Von Hippel-Lindau disease

Von Gierke disease

Wilson disease

Shone syndrome

Liver hamartoma

May-Hegglin, anomaly

Hajdu-Cheney, syndrome

Pulmonary alveolar proteinosis

Kennedy, disease

Wiedemann-Rautenstrauch syndrome

Stüve Wiedemann syndrome

Schinzel-Giedion syndrome

Neonatal progeroid syndrome

Mowat-Wilson, syndrome

Cobb, syndrome

Cantù, syndrome

Cat eye syndrome

Naxos, disease

Zellweger syndrome

Ectopia cordis

Dysplasia: maxillo-nasal

Binder, syndrome

Arginase-1 deficiency

SCIWORA

CIP (Congenital Indifference to Pain)

Congenital indifference to pain

Marshall, syndrome

nanism

Dwarfs

Headline

Oro-facio-digital, syndromes

Angiomatosis: cutaneomeningospinal 

Congenital skin aplasia - epibulbar dermoids syndrome

Arantius duct agenesis

FRAXF syndrome

Hyperimmunoglobulinemia D, syndrome

Children’s Interstitial Lung Disease 

Antiphospholipid antibodies syndrome

Adiponecrosis, subcutaneous, neonatal

Cytosteatonecrosis, neonatal

Leukemia, neonatal and of the small infant

Leukemia, myelomonocytic

Leukemia, chronic myeloid

Leukemia, acute myeloid

Aciduria: mevalonic

Ocular-ectodermal syndrome

Barlow, disease

Toriello-Lacasse-Droste syndrome

Hodgkin disease

Non-Hodgkin lymphoma

Anti-NMDA antibodies encephalitis

Azygos lobe

Non syndromic X-linked intellectual disabilities

Ganglioneuroma

Neuroblastoma

Wilms tumor

Nephroblastoma

Female-restricted X-linked-facial dysmorphism-short stature-choanal atresia, intellectual disability, syndrome

Congenital rubeola syndrome

Leukemia, acute lymphoblastic

Epilepsy with "ragged-red-fibers"

Intrinsic factor, congenital deficiency in

Factor VII, constitutional deficiency in

Facio-scapulo-humeral type muscular dystrophy

Familial cold-induced urticaria

Pseudoxanthoma elasticum

Elastinopathies

Sack-Barabas syndrome

Herlyn-Werner-Wunderlich syndrome

Grönblad-Strandberg-Touraine, syndrome

Gradenigo, syndrome

Macrothrombopathies: hereditary

FRAXE syndrome

Epiphyses: punctuated (disease)

Dwarfism: Robinow type

Encephalitis: diffuse periaxial

Edwards (2), syndrome

Ectocardia

Sebastian syndrome

Fechtner, syndrome

Epstein, syndrome

MYH9, syndrome

Diffuse myelinoclastic sclerosis

Sudanophilic leucodystrophy

Addison-Schindler, disease

Schilder disease

Timothy syndrome

Exocardia

Deficiency in phosphoglycerate mutase 2

Ductus venosus agenesis

Pulmonary capillaritis, pauci-immune

SAVI

COPA syndrome

4A syndrome

3A syndrome

Wildervanck syndrome

Familial or sporadic resistance to glucocorticoids

Saldino-Mainzer syndrome

Conoreal, syndrome

Chrousos, syndrome

SCM

Deficiency in phosphorylase b-kinase

EVALI

Deficiency in phosphoglycerate kinase

FIBGC

Albright hereditary osteodystrophy

Pseudopseudohypoparathyroidism

Pseudohypoparathyroidism

Calcinosis, striopallidodentate bilateral

Fahr, syndrome or disease

Albright, syndrome

Muenke, syndrome

Morquio-Brailsford, syndrome

Meromelia

Hemomelia

Tarui disease

Primordial microcephalic type Alazami dwarfism, syndrome

Acral dysostosis with facial and genital anomalies

Robinow-Silverman-Smith syndrome

Atresia of the bile ducts

BASM syndrome

Chronic non-bacterial osteomyelitis

Chronic recurrent multifocal osteomyelitis

Majeed syndrome

HIDEA syndrome

WITKOS

Witteveen-Kolk syndrome

Congenital portosystemic shunt

Myotonias, congenital

SAPHO syndrome

Familial Cold Auto-Inflammatory Syndrome

LOGIC syndrome

Laubry-Pezzi syndrome

DIRA syndrome

Alazami syndrome

HDR syndrome

Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy, syndrome

Morvan fibrillary chorea

Fibrillary chorea

Barakat syndrome

Vaping-associated pneumopathy

Morvan syndrome

Hypoparathyroidism - neurosensory deafness - renal dysplasia, syndrome

Multifocal chronic recurrent osteomyelitis

Cherubism-gingival fibromatosis-intellectual retardation syndrome

Favism

Mesoblastic nephroma

Bolande tumor

Brodie abscess

FOXG1 syndrome

Rett-like syndrome

Atypical Rett syndrome

Calcifying uremic ateriolopathy

Calciphylaxis

Trichodentoosseous syndrome

Infantile tremor syndrome

SAPL

Harlequin syndrome

Schmahmann syndrome

Ramon syndrome

Question mark ears syndrome

MIH

Jalili syndrome

Adrenal hyperplasia

Cone dystrophy: progressive

Auriculocondylar syndrome

Biliary atresia

Amelogenesis imperfecta

Hypophyseal deficiencies: combined congenital

AIMAH

Cushing, syndrome or disease

Heimler syndrome

PMIS

Otto disease

Muscular dystrophy with generalized lipodystrophy

Muscular dystrophy linked to LAP1B

Titinopathies

Benign congenital myopathy

Wolfram-type syndrome

Megaloblastic anemia responding to thiamine

TRMA

THMD

Thiamine pyrophosphokinase, deficiency in

Thiamine Metabolism Dysfunction

Hugues syndrome

MIS-C

Familial glucocorticoid Deficiency

KISS syndrome

KIDD Kinder syndrome

MECRCN

Median arcuate ligament syndrome

Metabolic encephalopathy - arhythmia associated with TANGO2, syndrome

Metabolic encephalomyopathic recurrent crisis - rhabdomyolysis - arrhythmias - intellectual deficit, syndrome

Papillary endothelial endovascular hyperplasia

Masson tumor

Ductus arteriosus, premature (fetal) closure

Median artery: forearm

Forearm median artery

APS(2)

Evans myopathy

Summitt and de Goodman syndrome

Pelizaeus-Merzbacher soudanophilic leucodystrophy

Pharyngolaryngeal bands

Buruli ulcer

Vitiligo

Gräsbeck-Imerslund, disease

Alpha granules, thrombocytic deficiency in

Glycoproteinoses

Deficiency in hepatic glycogen synthase 

(alpha)-Glucosidase acid, deficiency in 

Deficiency in glucose-6-phosphate translocase

Hallervorden-Spatz globus pallidus degenerescence 

Schmidt syndrome

Gasser, disease

Perineal groove

TNF Receptor Associated Periodic Syndrome (TRAPS)

TRAPS

Melkersson Rosenthal, syndrome

Granulomatosis: orofacial

Furlong-Kurczynski-Hennessy, syndrome

Folling, disease

Periodic fever with hyperimmunoglobulinemia D

Familial mediterranean fever

Intermittent fever secondary to TNF receptor type 1 A mutations

Hereditary periodic fever

Iron cerebral overload type 1, neurodegenerative syndrome

Chilaiditi, syndrome

Gilbert-Lereboullet, syndrome

Infantile papulous acrodermatitis

FCAS

FGD

Deficiency in glucocorticoids: familial, isolated

Retractile myopathy

Migeon syndrome

APS

APECED syndrome

Bruck syndrome

Addison disease

Creatine transport deficit

Creatine synthesis deficit

Deficiency in creatine

Cleft palate-lateral synechia syndrome

Epiphyseal dysplasia - microcephaly - nystagmus, syndrome

CPLSS syndrome

Aciduria: 3-methylglutaconic type 6

Leigh-like - aciduria -3-methylglutaconic -deafness - encephalopathy syndrome

MEGHDEL syndrome

MEGDEL syndrome

Lowry-Wood syndrome

Gianotti-Crosti disease

Keratosis exfoliativa congenita

PSS

Peeling skin syndrome

Elsahy-Waters syndrome

Brachioskeletogenital syndrome

Polyglandular type 1 or 2 syndrome

Cold agglutinin disease

Non-neurogenic neurobladder

Carney, complex of

5-oxoprolinuria

Aciduria: pyroglutamic

Deficiency in glutathion-synthetase

der (22)t 11;22, syndrome 

Chromosome supernumerary der (22)

Emanuel, syndrome

Triple A syndrome

COA syndrome

Cervico-oculo-acoustic, syndrome

Lennox-Gastaut, syndrome

CHILD, syndrome

Devic, syndrome

CK syndrome

Cold-induced sweating syndrome

Sohar-Crisponi syndrome

Occult neurogenic bladder

Dyssynergy: vesico-sphincteral functional

Hinman-Allen, syndrome

Hinman, syndrome

Trisomy 17p11.2

Potocki-Lupski, syndrome

BSF syndrome

Borjeson-Forssman-Lehmann, syndrome

Pheochromocytoma: in childhood

Multiple sclerosis of the child

Lennox, syndrome 

NISCH syndrome

Ectromelia

Richardson-Kirk syndrome

Middle-East syndrome

HRD syndrome

Brain tumor-polyposis type 2

Brain tumor-polyposis type 1

Sanjad-Sakati syndrome

Muir-Torre, syndrome

Lynch, syndrome

Nevoid basal cell carcinoma

Li-Fraumeni, syndrome

Deficiency in 5-oxoprolinase

Rossolimo-Curschmann-Batten-Steinert syndrome

Factor XII, constitutional deficiency in

Curschmann-Batten, syndrome

Sandifer-Sutcliffe syndrome

Sandifer syndrome

PAM

Rippling muscle disease

Potassium-Aggravated Myotonia

Mucoviscidosis

Deafness: congenital

Gloomy face syndrome

Hypercholesterolemia: familial

Toriello-Carey syndrome

Kapur-Toriello, syndrome

Gorlin, syndrome

Budd-Chiari, syndrome

Griscelli-Prunieras, syndrome

Elejalde, syndrome

Macular juvenile degeneration

Silver hair syndrome

Chediak-Higashi-like, syndrome

Stargardt disease or syndrome

PAID syndrome

Griscelli, disease

Albinism: partial with immunitair deficit

Reverse Shapiro syndrome

CUD

Hemophilia B Leyden

Deficiency in biotinidase

Swyer-James syndrome

Aciduria: isovaleric

Isovaleric acidemia or aciduria

Mongoloid spot

Hemoglobin Hazebrouk

Stevens-Johnson syndrome

SPG20

Generalized resistance to thyroid hormones

Spastic paraplegia: autosomic recessive type 20

Myxedema: congenital

Lyell, syndrome

Kleeblattschaedel syndrome

Rubeoleous embryopathy

Deficiency in carnitine

Hypercalcemia: hypocalciuric benign familial

Kenny-Caffey, syndrome

Rotor syndrome

Legg-Calvé-Perthes, disease

Early onset sarcoidosis

EOS

Bohn, nodules

Osteochondromas: multiple

Exostoses producing disease

Chondrodysplasia: deforming

Bessel-Hagen, deformity

Exostoses: congenital multiple 

Progressive sclerosing poliodystrophy

Giant nevus: congenital

Hypercalcemia: infantile familial

Melanocytic nevus: congenital

Hypercalcemia, benign familial

Fellman, disease

GRACILE syndrome

Alpers-Huttenlocher, syndrome

Wilkie syndrome

Superior mesenteric artery syndrome

Ataxia: Friedreich type - like

AVED

McLeod, syndrome (1)

Unilateral hemithorax lucency

Swyer-James-McLeod syndrome

Factor XIII, constitutional deficiency in

Lightwood, syndrome

Hemoglobin Hammersmith

SSS

Arthrogryposis: multiple congenital

Shulman syndrome

Polymicrogyrie

Sulky face, syndrome

Dysplasia: dolichospondylitic

Le Merrer, syndrome

Nanism 3M

Dysplasia: acromesomelic Du Pan type

Brachydactylies

Arhinia, choanal atresia and microphthalmia

Collodion baby

Hemoglobin Köln

Congenital ichthyosis

Afzelius, syndrome

Siewert-Kartagener syndrome

Siewert syndrome

Hemoglobin anti-Lepore

Hemoglobin Lepore

Hemoglobin Bart

Hemoglobin E

Drepanocytemia

Adult progeria

HIES

Facio-cutaneo-skeletal, syndrome

Arteriopathy: occlusive obliterans infantile

Arhinia: congenital

Carney, diad of

Pemphigus: familial benign

Amelia

Acrodysostosis: pre-axial

Myoglobinuria: recurrent from genetic origin

Von Voss-Cherstvoy syndrome

Phocomelia

Takao syndrome

Maltase (acid): deficiency in

PROMM

Norrie-Warburg, disease

Episkopi blindness

CANS

GUCH

AR-HIES

Carney, triad

Carnitine palmitoyl-transferase, deficiency in

Senter syndrome

Rud syndrome

LI

HID, syndrome

Arlequin fetus

Desmons-Britton, syndrome

Desmons, syndrome

Neu-Laxova syndrome

KID syndrome

Lamellar ichthyosis

Norrie, disease

Niikawa-Kuroki, syndrome

Rieger anomaly

Hypomagnesemia: primary familial with normocalciuria and normocalcemia

Hypomagnesemia, intestinal, with secondary hypocalcemia

Hypomagnesemia-hypomagnesemia, primary, autosomal dominant, with hypocalciuria

Hypomagnesemias: hereditary

Hypomagnesemia

Letterer-Siwe, disease

Happle, syndrome

Hamburger, disease

Haltia-Santavuori, disease

Dysplasia: atrio-digital type 1

Arteriopathy: idiopathic obliterans infantile

Cardiomeliic type 1, syndrome

Axenfeld-Rieger, syndrome

Situs inversus

Laurence-Moon, syndrome

Diffuse idiopathic osteolysis

Angiomatosis: diffuse kystic of the bones

Phantom bone disease

Spastic infantile diplegia

Little, syndrome or disease

Goltz-Gorlin, syndrome

PPNAD

Kenny-Caffey-Linarelli, syndrome

KCS2

KCS1

Heart-hand type 1, syndrome

Facial nerve paralysis

DK phocomelia, syndrome

AD-HIES

Werner syndrome

Rapunzel, syndrome

Post-poliomyelitis, syndrome

GACI, syndrome

Dysraphisms: spinal

Dysplasia: caudal

Sirenomelia

Myelodysplasias

Diplomyelia

Diastematomyelia

Rieger syndrome

Bell's paralysis

Axenfeld, syndrome

Mondor, disease

Kallmann, syndrome

Granulomatosis: Wegener

Bendon, syndrome

Wegener granulomatosis

Megacystis-microcolon-hypoperistalsis, syndrome

Laryngeal diastema

Iridogoniodysgenesis - hypodontia

Iridogoniodysgenesis with somatic anomalies

Hypomagnesemia: renal type 2

HOMG2

Arteriopathy: widespread obliterans infantile

A frigore facial nerve paralysis

Hereditary cerebral cavernoma

Omphalomesenteric duct remnant

HPMRS

Hyperphosphatasia with Mental Retardation Syndrome

Bangham syndrome

CHAND syndrome

Warts-hypogammaglobulinemia-infections-myeokathexis

WHIM syndrome

CFZ syndrome

Carey-Fineman-Ziter syndrome

Williams-Beuren syndrome

Anti-GBM antibody disease

Mabry syndrome

Hereditary cerebral cavernous hemangioma

Hyperphosphatasia with mental retardation type 1

Cerebral cavernoma

Cavernoma: cerebral familial

Saldino-Noonan syndrome

Majewski syndrome (1)

Short ribs - polydactyly syndrome

OHVIRA syndrome

Hematocolpos

Hydrometrocolpos

Didelphys uterus-blind hemivagina-renal agenesis

Urachus diverticulum

Urachus sinus

Hyperglobulinemia E

Goodpasture syndrome

Acatalasemia

Bohring syndrome

Alezzandrini syndrome

OMA syndrome

Dressler syndrome

Spondylo-epiphyseal dysplasia (late)

Migraine, familial hemiplegic

Takahara syndrome

Aggressive fibromatosis

Widal syndrome or triad

Desmoid tumor

Peroxisomal diseases

Lin-Gettig syndrome

Acatasia

Dysplasia: oculo-auriculo-vertebral

Lingual thyroid

Zunich-Keye syndrome

CNPAS

Congenital nasal pyriform aperture stenosis

Piriform aperture stenosis

Ogden syndrome

Pyriformis sinus fistula

Piriform recess fistula

Glycosylation, congenital anomaly due to deficiency in PIGL

CHIME syndrome

Nishimura-Schmidt endochondral gigantism

Moreno-Nishimura-Schmidt syndrome

Hemoglobin Santa Ana

Crouzon, disease ou syndrome

Metrocolpos

Hepato-lenticular degeneration

Deficiency (multiple) in acyl-CoA dehydrogenase

Cerebral deficiency in folates

Deficiency in C1 esterase

Danon, disease

Dandy-Walker malformation

Dancing eyes-dancing feet syndrome

Cystinosis: infantile nephropathic

Cystinosis

Cutis laxa

Dejerine-Sottas. syndrome

Cryptophthalmos syndrome

Deletion 13q

Criggler-Najjar, syndrome

Cri-du-chat, syndrome or disease

Cowden, syndrome

Costello, syndrome

Occipital horns, syndrome

Horns, posterior, syndrome

Cori, disease

Conradi-Hünermann, syndrome

Cohen, syndrome

Coffin-Siris, syndrome

Cockayne, syndrome de

Cobalamine, congenital deficit

Currarino, syndrome or triad of                

Dubin-Johnson, syndrome

Dysplasia: ectodermal - or ectodermic - anhidrotic

Dysplasia chondroectodermic

Dysplasia: arterio-hepatic

Dysostosis: mandibulo-facial

Dysostosis: craniofacial

Dysostosis: acrofacial post-axial

Dysostosis: acrofacial

François dyscephalia

Bird-like dyscephaly

Dysautonomia: familial

Dutch-Kentucky, syndrome

Spongy degeneration of the central nervous system

Dubowitz, syndrome

CMMR-D syndrome

Drepanocytosis

Dravet, syndrome

Drash, syndrome

Down, syndrome 

Dorfman-Chanarin, syndrome

Di George, syndrome or sequence

DIDMOAD, syndrome (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness)

Phospho-gluco-amino diabetes

Desbuquois, syndrome

Denys-Drash, syndrome

De Morsier, syndrome

Delleman-Oorthuys, syndrome

Duchenne, muscular dystrophy

Gorham, syndrome or disease

Bohring-Opitz syndrome

Hanhart, syndrome

Hand-Schüller-Christian, disease

Hamartoblastoma (hypothalamique) - polydactyly, syndrome

Hallervorden-Spatz, syndrome or disease

Hallermann-Streiff-Francois, syndrome

Haddad, syndrome

Guillain-Barré, syndrome

Grisel, syndrome

Eosinophilic granuloma

Langerhans cells granulomatosis

HARD syndrome

Gorham-Stout, syndrome

Hashimoto-Pritzker, syndrome

Gordon, syndrome (1)

Goodman, syndrome

Goldenhar, syndrome

Glycogenoses

Deficiency in glucose-6-phosphate-dehydrogenase (G6PD)

Glanzmann, thrombasthenia

Gitelman, syndrome

Gilbert, disease or syndrome

Cerebral gigantism

Genée-Wiedemann, syndrome

Gaucher, disease

Gargoylism

Gorlin-Goltz, syndrome

Hirschsprung, disease

Visceral leiomyopathy: non-familial

Hyperbilirubinemia Type 1

Systemic infantile hyalinosis

Hutchinson-Gilford, disease or syndrome

Hurler-Scheie, disease or syndrome

Hurler, disease or syndrome

Hunter, disease or syndrome 

Homocystinuria

Stone man, disease

Holt-Oram, syndrome

Holoprosencephaly

Happy puppet syndrome

Langerhans cell histiocytosis

Gamstorp-Wohlfart, syndrome

Hers, disease

Hepato-cerebro-renal, syndrome

Henoch-Schönlein, disease or purpura

Hennekam, syndrome

Hemophilia

Lymphohistiocytic hemophagocytosis

Hemolytic and uremic, syndromes

Neonatal hemochromatosis

Hemangioma-thrombopenia, syndrome

Kaposiform hemangio-endothelioma

Hecht-Beals, syndrome

Hecht, syndrome

Histiocytosis  X

Dystrophy: thoracic familial asphyxiating

Opsoclonic encephalopathy

Encephalomyopathy: necrotizing subacute

Emery-Dreifuss type 3, muscular dystrophy

Emery-Dreifuss, myopathy or muscular dystrophy

Elongation of the styloid process, syndrome

Ellis Van Creveld, syndrome

Elephant man disease

Elastinolysis

Ehlers-Danlos, syndromes

EEC, syndrome 

Edwards(1), syndrome

Gardner, syndrome

Eagle, syndrome

Escobar syndrome

Dystrophies: myotonic

Dystrophy: muscular with micropolygyria

Dystrophies: muscular congenital

Dystrophy: osteochondromuscular

Dysplasia: right ventricular arrhythmogenic

Dysplasia: septo-optic

Dysplasia: osseous familial

Dysplasia: olfacto-genital - Kallmann- De Morsier

Piebaldism

Opitz-trigonocephaly-like syndrome

Oberklaid-Danks syndrome

Christ-Touraine-Siemens, syndrome

Eagle-Barrett, syndrome

Fifth digit syndrome

BOS syndrome

Galloway-Mowat, syndrome

Galactosialidosis

G, syndrome

Fukuyama, disease

Fucosidosis

Fryns, syndrome

Friedreich, disease

Freeman-Burian, syndrome

Frasier, syndrome

Fraser, syndrome

Franceschetti-Klein, syndrome

Epilepsy: myoclonic with ragged-red-fibers

Forbes, disease

Erythrodermia: ichtyosiform with leucocytes vacuolization

Periodic familial fevers

Pancreatic kystic fibrosis

Hyaline juvenile fibromatosis

Fibrodysplasia ossificans progressiva

Feingold, syndrome

Farber, disease

Fanconi, syndrome or disease

Fanconi, anemia or pancytopenia

Falciform anemia

Fabry, disease

Whistling face syndrome

Gangliosidoses GM2

Franceschetti, syndrome

Dobrow, syndrome

Aarskog, syndrome

Fetal akinesia sequence

COFS, syndrome

Cerebro-oculo-facio-skeletal, syndrome

Pena-Shokeir type 2, syndrome

Pena-Shokeir type 1, syndrome

Willebrand (von) disease

Glycogénose type 0

Glycogenosis type I

Schisis association

Kimura, disease

Berardinelli-Seip-Laurence, syndrome

ROHHAD syndrome

Diabetes: lipoatrophic

Congenital central alveolar hypoventilation

Turner-Kieser syndrome

Pierson, syndrome

Osteo-onychodysplasia: hereditary

Nephrotic syndrome, congenital

Nephrosis

Finnish type nephrotic syndrome

Nephrotic syndrome, idiopathic

Hood, syndrome

Fong, disease

Nail-patella, syndrome

Afibrinogenemia: congenital

Fetus in fetu

TPT-PS syndrome

CINCA syndrome

Fructose intolerance

Deficiency in fructose-1-phosphate aldolase

Fructosemia: congenital

Galactosemia, congenital

Marshall, syndrome (2)

SMARD1 syndrome

Microdeletion 17p11.2

Smith-Magenis syndrome

Varadi-Papp syndrome

Asphyxia: traumatic

Berardinelli-Seip, syndrome

Joubert type A, syndrome

Ataxia-telangiectasia

Portosystemic shunt, congenital

Triphalangeal thumb-polysyndactyly

Subcortical laminar heterotopia

Lissencephalies

Portopulmonary hypertension

Hepatopulmonary, syndrome

Aplasia and et dysplasia of the tibia with an intact fibula

Tibial hemimelia

Gollop-Wolfgang, syndrome

Lipodystrophy-acromegaloid gigantism, syndrome

Seip-Laurence syndrome

Seip syndrome

Perthes, syndrome

Adenocutaneous, syndrome

Allgrove, syndrome

alpha1-antitrypsine, deficiency in

Alexander, disease (1)

Alcoholic, embryofetopathy

Alcalosis: hypokaliemic - hypercalciuria

Albinism: oculo-cutaneous

Albers-Schönberg, disease

Alagille, syndrome

Aicardi, syndrome

Aglossia-adactyly

Adrenoleukodystrophy

Autism

Adiposogenital-pigmental retinitis, syndrome

Alström, syndrome

Adams-Oliver, syndrome

Acrocephalopolysyndactyly type V

Acrocephalosyndactyly type IV

Acrocephalosyndactyly type III

Acrocephalopolysyndactyly type II

Acrocephalosyndactyly type I

Propionic acidemia

Methylmalonic acidemia

Glutaric type II, acidemia or aciduria

Glutaric type I acidemia

Aciduria: dicarboxylic

Achondroplasia

Adrenogenital, syndrome

Angiokeratoma corporis diffusum

Aarskog-Scott, syndrome

Ataxia: spinocerebellar

Asherson, syndrome

Arthrogryposis

Arnold-Chiari, malformation

Aria, syndrome

Arhinencephaly

ARC, syndrome 

Aplasia: cutis congenita

Apert, syndrome

Antley-Bixler, syndrome

Aniridia - Wilms tumor, syndrome

Alpers, syndrome

Angiomatosis: encephalotrigeminal

Alport, syndrome

Angioneurotic edema (familial)

Angelman, syndrome

Anemia: falciform

Anderson, syndrome

Andersen-Tawil, syndrome

Andersen, disease

Analphalipoproteinemia

Analbuminemia: congenital

Amyotrophias: spinal

Amyoplasia: congenital

Amylo-pectinosis

Peroneal atrophy

Angiomatosis: hemorrhagic familial

Becker-Kiener, syndrome

Morgagni, hernia

Brevicollis congenital

Breschet-Gorham-Stout, syndrome

Branchio-otic, syndrome

Bowen, syndrome

BOR, syndrome

Blue Rubber Bleb Naevus, syndrome

Bloch-Sulzberger, syndrome

Bland-White-Garland, syndrome

Blackfan-Diamond, disease

Behçet, disease

Brunner-Winter, syndrome

Becker, disease

Buckley, syndrome

Becker, muscular dystrophy

Beare-Stevenson, syndrome

Bean, syndrome

BBB, syndrome

Batten, disease

Bartter (or Schwartz-Bartter), syndrome

Bardet-Biedl, syndrome

Barber-Say, syndrome

Bamforth, syndrome

Bannayan-Riley-Ruvalcaba, syndrome

Scimitar syndrome

Chondrodysplasia: calcific congenital

Beckwith-Wiedemann, syndrome

Central Core Disease

Hyperoxaluria primitive type I

Chondrodysplasia: punctata

Chotzen, syndrome

Cholinesterase: atypical

Intrahepatic cholestasis: progressive familial 

Jaundice: familial

Cherubism

Chediak-Higashi, disease or syndrome

CHARGE, syndrome or association 

Charcot-Marie-Tooth, disease

Lipofuschinosis: ceroid neuronal late infantile

Brugada, syndrome

Cerebro-hepato-renal, syndrome

Chemke-Oliver Mallek, syndrome

CDG syndrome

Cayler, cardiofacial syndrome 

Cat eye syndrome

CATCH-22, syndrome 

Castleman, disease

Carpenter, syndrome

Caroli, disease

Carnitine palmitoyl-transférase, deficit in

Cantrell, pentalogy 

Canavan-Van Bogaert-Bertrand, syndrome

Canavan, disease

Byler, disease or syndrome

Lipofuschinosis: ceroid neuronal

Acrocephalosyndactylies

ALCAPA

Netherton, syndrome

Ataxia by isolated deficiency in vitamin E

Aspartylglucosaminuria

Arthro-ophtalmopathy: hereditary progressive 

Arthrogryposis: distal

Arménienne, maladie

Arachnodactyly: congenital

Amyotrophia: spinal, infantile

Amyotrophia: bulbospinal X-linked

Aminoaciduria: hyperdibasic type I

Chiari malformation

Acroosteolysis

Hypsarythmia

Acrocephalopolysyndactylies

Acrocallosal syndrome: type Schinzel

Aciduria: N-acetyl-aspartic

Pilomatrixoma

Pilomatricoma

Malherbe calcified epithelioma

Watson syndrome

Moynahan, syndrome

May-Thurner, syndrome

3M, syndrome

Facio-digito-genital, syndrome

Dysplasia: faciogenital

Aicardi-Goutières, syndrome

Blau, syndrome

Chylomicron retention disease

Chemke, syndrome

Charcot disease

Cerebro-oculo-renal, syndrome

Ceramidase, deficiency in

Caroli, syndrome

CAPS (1)

Porencephalies: autosomal dominant

HANAC syndrome 

Erdheim-Chester, disease

Burn-Baraitser, syndrome

Burke, syndrome

Bourneville, tuberous sclerosis or syndrome

Brachmann-de Lange, syndrome

West syndrome

Biemond, syndrome

Bickel-Fanconi, disease

Dystrophy: thrombocytic hemorrhagic

Bernard Soulier, disease

IgA nephropathy

Berger, disease

Michelin baby, disease

Cutis gyrata, syndrome 

Bazex-Dupré-Christol, syndrome

Baraitser-Burn, syndrome

Bannayan-Zonana, syndrome

Steely hair disease: Menkes syndrome

Branchio-Oto-Renal, syndrome

Giant axonal neuropathy

Martsoft, syndrome

Phenylpyruvic oligophrenia

Ohtahara, syndrome

Oculomandibulodyscephaly with hypotrichosis

Oculodigitoesophagoduodenal syndrome

Oculocerebrorenal syndrome

Oculo-cerebro-cutaneous, syndrome

Norio syndrome

Noonan, syndrome

NOMID

Noack, syndrome

Ondine, syndrome or course

Neutropenias, congenital severe

Ondine-Hirschsprung, syndrome

Neuromyotonia

Neurofibromatosis type II

Neurofibromatosis type I

Nephronophthisis

Endocrine neoplasias, multiple, syndrome

Nemaline myopathy or nemaline rod myopathy

NARP, syndrome 

Progeroid dwarfism

Osteodysplasic primordial dwarfism

Huntington, disease

Bannwarth, syndrome

Hyperexplexia

Niemann-Pick, disease or syndrome

Oxycephaly-acrocephaly

Pelizaeus-Merzbacher syndrome

Pearson, syndrome

Patau, syndrome

Parry Romberg, syndrome

Parkes-Weber, syndrome

Thyrotoxic hypokaliemic periodic paralysis

Periodic familial paralysis

Cardiodysrythmic periodic paralysis

Pallister-Killian, syndrome

Pallister-Hall, syndrome

Pagon, syndrome

Ollier, disease

Virchow oxycephaly

Ichthyosis-prematurity, syndrome

Oxalosis

Oto-palato-digital, syndrome

Malignant osteopetrosis

Osteogenesis imperfecta

Osler-Rendu-Weber, disease

Glass bone disease

Marble bone disease

Ornithine-carbamyl transferase, deficiency in

Opsoclonia-myoclonias, syndrome

Opitz-Frias, syndrome

Opitz, syndrome

Onychodysplasia, dwarfism

PAF

Diaphragmatic hernia - omphalocele - corpus callosum agenesis, syndrome

Congenital ichthyosis type 4

Benign periodic hypothermia

Hypoproconvertinemia

Hypoglossia-hypodactyly syndrome

Hyperargininemia

Muscular hyperactivity, syndrome

Cutaneous hyalinosis

HSAN

Hormone Organification Defect Iib

Holzgreve-Wagner-Rehder

Holzgreve, syndrome

Jussieu, syndrome

HIDS (Hyperimmunoglobulinemia D syndrome)

Panthotenate kinase-associated neurodegeneration

Hermansky-Pudiak, syndrome

Hennekam-Beemer, syndrome

Hemophilia C

Hemoglobin S

Hemoglobin M

Hemoglobin H

Hemoglobin F

Hemoglobin C

Hemimelia

Hydrocephalus-Agyria-Retinal Dysplasia

Low molecular weight proteinuria and nephrocalcinosis

Nephrolithiasis: X-linked

Hippel-Lindau, disease

MD

Hammam, syndrome

Palmoplantar keratodermia - periodontopathy

Bronchomalacia: congenital

Williams-Campbell syndrome

Papillon-Lefevre, syndrome

Haim-Munck, syndrome

Encephalitis with anti-NMDA receptor antibodies

Dyke-Davidoff-Masson, syndrome

Zaspopathy

Trichopoliodystrophy

Myotilinopathy

Hypotonia-cystinuria, syndrome 

MK

Perlman, syndrome

HOS (acronym for Occiptal Horn Syndrome)

Filaminopathies

Dystrophy: muscular hypertonic affecting native Canadians

Desmopathy

Deficiency (X-linked) in copper

Occipital horns, syndrome

Steely hair disease: Menkes syndrome

Bag3-pathy

ab-cristallinopathy

Myofibrillar myopathies 

Rosenthal disease

Sensitive and autonomic hereditary neuropathies

MNK

Duane, syndrome

Pendred, syndrome

Duane retraction syndrome

Polysplenia

Okihiro, syndrome

Marin-Amat, syndrome

Gunn, syndrome 

Reverse Marcus Gunn, phenomenon

Marcus Gunn, syndrome

Jaw-Winking, syndrome

Gluten intolerance

Heterotaxy syndrome

Malignant hyperthermia

DRS (Duane Retraction Syndrome)

Microdeletion  9q34.3

Celiac, disease

Bronchia suis (pig bronchus)

Tracheal bronchus

Asplenia, syndrome

Narcolepsy

Epilepsy: occipital of Panayiotopoulos

Epilepsy: nocturnal idiopathic

Panayiotopoulos, syndrome

Shprintzen velocardiofacial syndrome

Sheldon-Hall syndrome 

SCAD (short-chain acyl-coenzymeA dehydrogenase deficiency)

Shapiro syndrome

Duane Radial Ray syndrome

Refsum disease

Hailey-Hailey, syndrome

Encephalocele

Rokitansky syndrome

MURCS, association

Mayer-Rokitansky-Küster-Hauser, syndrome

Epilepsy with myoclono-astatic crises

Doose, syndrome

FIRES

Fontaine-Farriaux, syndrome

Petty-Laxova-Wiedemann, syndrome

Petty, syndrome

Stilling Turk Duane syndrome

Warburg Micro syndrome

Blue sclera disease

Refsum disease, infantile

Micro, syndrome

Esophageal bronchus

Microdeletion Xp21, syndrome

Glycerol-kinase, deficiency in

Parahemophilia

Owren, maladie d'

Factor V of Leiden

Factor V, constitutional deficiency in

Respiratory chain, pathologies of the

Mitochondrial cytopathies

Kleefstra, syndrome

WARBM1

Pompe, disease

Proteus syndrome

Lipoid proteinosis

Protein S, deficiency

Protein C, deficiency

Mitral valve prolapse

Progeria

Progressive Familial IntraHepatic Cholestasis

Prader-Willi, syndrome

Short PR-normal QRS syndrome

Potter, syndrome

Post-anginous septic syndrome

Senior-Loken syndrome

Porak et Durante, disease

Pseudomyotonia

Acute inflammatory polyradiculonevritis

Adenomatous polyposis: familial

Progressive infantile poliodystrophy

Poland syndrome

Gray platelets syndrome

Pierre-Robin sequence

Phenylketonuria

PHACE(S), syndrome 

PFIC

Pfeiffer, syndrome

PFAPA, syndrome

Aarskog-Ose-Pande, syndrome

Porphyrias

Histiocytic reticulosis

Pepper, syndrome

Linear scleroderma

Schwartz-Jampel syndrome

Schwartz-Bartter syndrome

Schwannomatosis of nerve VIII

Sanfilippo disease

Saethre-Chotzen syndrome

Russell-Silver syndrome

Rubinstein-Taybi syndrome

Romano-Ward syndrome

Robinow syndrome

Riley-Day syndome

Prune belly, syndrome

Rett syndrome

Pseudocholinesterase, deficiency in

Reticulogranulomatosis

Rendu-Osler disease

Recklinghausen (von), disease

Rautenstrauch-Wiedemann, syndrome

Articular stiffness: congenital

Long QT syndrome with deafness

Long QT syndrome, neonatal

Long QT syndrome, congenital

Puretic syndrome

Precocious puberty independent of gonadotropins in the girl

Popliteal pterygium syndrome

Seckel syndrome

Reye syndrome

Omenn, syndrome

Hyperglyceraturia

Abernethy, malformation

Left superior vena cava, persistence of the

Senator syndrome

Lethal form of multiple pterygium syndrome

Non-lethal form of multiple pterygium syndrome

Facio-genito-popliteal, syndrome

Universal pterygium

Multiple pterygium syndrome

Adrenals congenital lipoid hyperplasia

Hay-Wells, syndrome

Deletion 7q11.23

Familial reticuloendotheliosis with eosiniphilia

Monosomy 7q11.23

Hyperkinetic, syndrome

Hyperactivity and attention deficit, syndrome

ADHD

SEIPA syndrome

Peters plus, syndrome

Neuroborreliosis

Lyme, disease

Chorea, Huntington

Huntington, chorea

Lown-Ganong-Levine, syndrome

Lowe, syndrome

Louis-Bar, syndrome

AEC, syndrome

Nonne-Milroy, disease

Dent, disease

Hyperoxaluria primitive type II

Hyperglycolaturia

Deficiency in monocarboxylate carrier 8

Deficiency in MCT8

Intellectual deficit (X-linked) - hypotonia

Allan-Herndon-Dudley, syndrome

Lambert-Eaton, syndrome

Botulism, infantile

Botulism

Samaritans myopathy

Epulis, congenital

Claude Bernard-Horner, syndrome

Lissencephaly type I

Meige, disease

Lymphedema: congenital type I

Milroy, disease

Sweet syndrome

Brody, syndrome

Coloboma: ectatic

Morning Glory, syndrome

Dysostosis: acrofacial or acrodental Weyer type

Minkowski-Chauffard, disease

Spherocytosis

Microspherocytosis

Neumann, tumor

MOMO syndrome

Isochromosome 12p with mosaicism, syndrome

Kasabach-Merritt, syndrome

Kartagener, syndrome

Kallmann-De Morsier, syndrome

Kabuki, syndrome

Joubert, syndrome and related

Johanson-Blizzard, syndrome

Job, syndrome

Jeune, syndrome or asphyxiating thoracic dystrophy

Jervell-Lange-Nielsen, syndrome

Jansky-Bielschowsky, disease or amaurotic idiocy

Jaeken, syndrome 

Lobstein, disease

Jacobsen, syndrome

Kelley-Seegmiller, syndrome

Isaacs, syndrome

Congenital insensitivity to pain

Incontinentia pigmenti achromians

Incontinentia pigmenti

Ciliary immobility, syndrome

Dorfman-Chanarin ichthyosis

Hypospadias-dysphagia, syndrome

Ito, hypomelanosis of

Hypoglycosylation of glycoproteins

Hypertension hyperkaliémique familiale

Lymphoid angiofollicular hyperplasia

Congenital adrenal hyperplasia

Jadassohn, nevus

Larsen, syndrome

PRES

Lipogranulomatosis

Lipofuscinoses 

Lignac-Fanconi,  syndrome

Leucodystrophies

Leucinosis

Lesch-Nyhan, syndrome

LEOPARD, syndrome 

Lemierre, syndrome

Leigh with maternal inheritance, syndrome

Leigh, disease or syndrome

Leichtman-Wood-Rohn, syndrome

Kawasaki, disease

Landry-Guillain-Barré, syndrome

Kearns-Sayre, syndrome

Krabbe, disease

Kugelberg-Welander, disease

Kostmann, syndrome or disease

Kok, disease

Klippel-Trénaunay-Weber, syndrome

Klippel-Feil, syndrome

Klinefelter, syndrome (47X chromosomes, XXY syndrome)

Klein-Waardenburg, syndrome

Kinsbourne, syndrome

Kinky hair syndrome

Kikuchi-Fujimoto, disease

Lissencephaly type II

Laurence-Moon-Bardet-Biedl, syndrome

Cartilage-hair hypoplasia 

Hyperoxaluria primitive type III

Alcaptonuria

Cancrum oris

Rothmund-Thomson syndrome

Noma

Dysplasia: spondylo-epiphyseal (late)

Tracheobronchomegaly

Factor XI, constitutional deficiency in

Dysplasia: anauxetic

Chondrodysplasia: metaphyseal (McKusick)

Chondrodysplasia: metaphyseal autosomic recessive

Adynamia: transient hereditary or Gamstorp's adynamia

Mounier-Kuhn, syndrome

Gamstorp, disease

Dysplasias: spondylo-metaphyseal

Erythromelalgia

Deficiency in aspartoacylase

Deficiency in aminoacylase 2

Konzo, disease

CLOVE(S) syndrome

Nanism with onychodysplasia

Microcephalic primordial dwarfism

Nanocephalic dwarfism

Bird-headed dwarfism

NAGS, deficiency in

Nager, syndrome

Cartilage-hair hypoplasia

Harlequin baby

Dilated or congestive cardiomyopathies

SHORT syndrome

Dermatosparaxia

Schaltenbrand syndrome

Spontaneous or idiopathic intracranial hypotension

Deficiency in glutaryl-CoA dehydrogenase

Aciduria: glutaric type I

SAMS 1-31

Dysplasia: cerebro-facio-thoracic

Pascual-Castroviejo type 2, syndrome

Pascual-Castroviejo type 1, syndrome

RAPADILINO, syndrome

Kaufman type, oculocerebrofacial syndrome

Murray-Puretic-Drescher, syndrome de

Antithrombin 3 deficiency

Kelley-Seegmiller, syndrome

Deficiency in hypoxanthine-guanine-phosphoribosyltransferase grade IV

Deficiency (complete) in hypoxanthine-guanine-phosphoribosyltransferase

Clefts: facial

Tessier's facial clefts

Wolman disease

Dursun, syndrome

Westphall disease

Periodic paralysis type 3

Potassium sensitive periodic paralysis - cardiac dysrythmia

Ochronosis: hereditary

Thrombophilia: hereditary due to a congenital deficiency in antithrombin 3

McArdle, disease

Miller, syndrome

Hemifacial microsomia

Microgyria-pachygyria, syndrome

Methemoglobinemias: congenital

MERRF syndrome 

Menkes, syndrome

MEN, syndrome 

Melnick-Fraser, syndrome

MELAS, syndrome 

Megacolon: congenital

McKusick-Kaufman, syndrome

Osteohypertrophic varicose nevus

MCAD

MILS

Mastocytosis

Marshall-Smith, syndrome

Maroteaux-Lamy, disease

Marfan, syndrome or disease

Mannosidosis

Maffucci, syndrome

Histiocytic necrotizing lymphadenitis

Systemic lupus erythematosus: infantile

Pycnodysostosis

Marchiafava-Micheli, disease

Paroxysmal nocturnal hemoglobinuria

Fitz-Hugh-Curtis, syndrome

McCune-Albright syndrome

Multiple pterygium syndrome

Rieger anomaly-partial lipodystrophy

Steinert myotony

Non-dystrophic myotonias

Dystrophic myotonia

Chondrodysplasic or chondrodystrophic myotonia

Congenital myotonias

Ossifying myositis: progressive

Duchenne of Boulogne myopathy

Rod myopathy

Central axis myopathy

Myokimia: continuous

Myodysplasia or myodystrophy: consitutional

Miller-Dieker, syndrome

Muscle-eye-brain disease

Miller-Fisher, syndrome

Muckle-Wells syndrome

Mucopolysaccharidoses

Mucolipidoses

Moya-Moya, disease or syndrome

Morquio, disease

Morphea

Molluscum fibrosum

Moebius, syndrome

MODY, syndrome 

MODED, syndrome 

MNGIE, syndrome 

Epidermic nevus, syndrome

Myasthenia

Propping-Zerres, syndrome de

Alzheimer: familial disease

Cheney, syndrome

Presenile dementia with osseous cysts

Ectrodactyly - ectodermic dysplasia - cleft lip palate

Isaacs-Mertens, syndrome

LMS

McCabe, disease

MCTO, syndrome

NAO, syndrome

Nasu-Hakola, disease

Multicentric hereditary osteolysis

Atrioventricular block

POTS

Deletion 9p22

Rapp-Hodgkin syndrome

Torg syndrome

Torg-Winchester syndrome

POTS

Primary osteolysis, syndromes

Multicentric carpotarsal multicentric osteolysis

Lipomembranous osteodystrophy with leucoencephalitis

Osteodystrophy, familial expansive

MONA

Limb-Mammary, syndrome

JS-X, syndrome

Genitopatellar syndrome

PLOSL

MCM, syndrome

Syngnathia

Oropharyngeal atresia

Mulvihill-Smith, syndrome

PLEVA

Acuta lichenoides and varioliformis pityriasis

Mucha-Habermann, disease

SCID due to a deficiency in adenosine deaminase

DICS: by deficiency in artemis protein

DICS type athabascan

Pleonosteosis, Leri

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephaly

Al-Aqueel Sewairi, syndrome

Macrocephaly - cutis marmorata telangiectatica congenita

ADULT syndrome

Launois-Bensaude benign symmetric lipomatosis 

Cephalothoracic lipodystrophy

Dyschondrosteosis

Congenital scalp defects with distal limb reduction anomalies 

Macrocephaly-capillary malformation, syndrome

Madelung, disease

Madelung, deformity

Leri-Weill, syndrome

Poliomyelitis

9p-, syndrome

Alfi, syndrome

Monosomy 9p

Megalencephaly with capillary malformation - polymicrogyria

Zika virus infection

Dysplasia: mandibulo-acral

Distichiasis-lymphedema syndrome

Aagenaes syndrome

Tolosa-Hunt syndrome

Horseshoe-shaped lung

Accessory diaphragm syndrome

Pulmonary sequestration

Tracheal obstructive fibrinous pseudomembranes

NAM

Amerindians myopathy

Adenomatoid disease of the lung

Unstable hemoglobins

Deficiency in pyrimidine 5' nucleotidase

Hemoglobin Bonn

Trisomy 10qter

Distal duplication 10q

Trisomy 10q

Trisomy 10p

Hemoglobin Miwate

Hemoglobin Cheverly

Familial spastic paraplegia

MEHMO

Spondyloepiphyseal dysplasia: congenital

Flexures reticular pigment anomaly

Dowling-Degos disease

Deficiency in pyruvate-kinase

Hemoglobin Rothschild

Intracranial hypotension

Paget-Schroetter, syndrome

Methylmalonic acidemia with homocystinuria

Dystonia: hereditary progressive with diurnal fluctuations

Dystoniea: dopa-sensible

Parkinson:disease, infantile

Segawa syndrome

Arterio-portal congenital fistula

Laband, syndrome

Urachal cyst

Hirayama disease

Diapneusia

Emberger syndrome

Oncogenic osteomalacia

Buccopharyngeal membrane persistance

HDL syndrome

Syringomyelia

Craniopharyngioma

Choanal atresia

Cerebellar ataxia - deafness - narcolepsy syndrome

Waldmann disease

Meyer-Schwickerath disease

Oculo-dento-digital syndrome or dysplasia

Milroy-like disease

Hemoglobin Ypsilanti

Hemoglobin Venusberg

Hemoglobin Lansing

Monarch disease

Oculopalatoskeletal syndrome

Waugh syndrome

Rodriguez acrofacial dysostosis

Acrofacial dysostosis, Rodriguez type

Pili trianguli et cornaliculi

Progressive arterial occlusion - arterial hypertension - cardic malformation - bone fragility - brachysyndactyly, syndrome

Grange arterial occlusion syndrome

Giant hypertrophic gastropathy

Menetrier disease

Laparoschisis

Gastroschisis (laparoschisis)

Grange syndrome

Hereditary neuropathy with liability to pressure palsies

Uncombable hair syndrome

Obesity due to proopiomelanocortine deficiency

Gowers disease

Distal type 1 myopathy

Type 1 distal myopathy

Laing myopathy

Michels syndrome

Felson venolobar syndrome

Yellow nails syndrome

Tethered cord syndrome

Chylothorax

Sheehan syndrome

SHARP syndrome

Hereditary pyropoikilocytosis

Cowchock syndrome

Pyridoxine-dependent convulsions

Hypertrophic cardiomyopathies

Chronic diarrhea by hyperactivity of guanylate cyclase 2C

Congenital diarrhea with exsudative enteropathy

Distal 3p deletion

BMRS Verloes type

BMRS deletion 3p type

BMRS classification

SBBYS

Prieur-Griscelli syndrome

Congenital myopathy with disproportion of the fiber types

Amelocerebrohypohydrotic syndrome

KBG syndrome

Mohr syndrome

Lutheran null phenotype

COMMAD

CAKUT

Prader-Willi habitus-osteopenia-camptodactyly, syndrome

X-linked fixed epileptogenic encephalopathy

Intellectual deficit-short stature-hands contractures-genital anomalies, syndrome

Urban-Roger-Meyer syndrome

Snyder-Robinson syndrome

ABS

ADAM

Short stature-facial and skeletal anomalies-intellectual deficit-macrodontia, syndrome

Deletion 2p32.1-24.1

Deficiency in proopiomelanocortine

Kohlschütter-Tönz syndrome

Pharyngo-cervico-brachial, syndrome

Leathery skin, syndrome

SICMMU

SMMCI

SSKS

Stiff skin syndrome

Pneumatocele

Solitary median maxillary central incisor

LGMD

Lujan-Fryns, syndrome

Ethylmalonic encephalopathy

Amniotic bands

Pyropoïkilocytosis (hereditary)

Lobar emphysema (congenital)

Bloom, syndrome

Nasal mucocele: congenital

Lacrymonasal cyst, congenital

Atrophy: cortical posterior

Laryngomalacia

Benson, syndrome

Benson, disease

Charlevoix-Saguenay, spactic ataxia

Michel, aplasie de

CHAOS

Bowen, hutterite syndrome

Bowen-Conradi, syndrome

SOPH syndrome

Cervical cleft, medial, congenital

Systemic capillary leak syndrome

Maxilla fusion, congenital

South-east Asia ovalocytosis

Nicolaides-Baraitser syndrome

Neuroacanthocytosis

McLeod phenotype

McLeod syndrome (2)

Elliptocytosis

Levine-Critchey syndrome

Mirror movements, congenital familial

SFCI

SFC

Capillary hypermeability, syndrome

Congenital fascial dystrophy

Hemoglobin Kirksey

Galen, vein of, aneurysm

IOSCA

Ohaha, syndrome

Spinocerebellar ataxia, infantile type 8

KWWH type II

KWWH type I

Palmoplantar hyperkeratosis - arhthmogenic cardiomyopathy, syndrome

Wolly hair - palmoplantar hyperkeratosis - dilated cardiomyopathy, syndrome

Short QT syndrome, familial

Carvajal, syndrome

Dwarfism: Levi type

Bloom -Torre - Mackacek, syndrome

Stomatocytosis

Clarkson, disease

Floating Harbor syndrome

Lichen striatus

Autonomous hyperthyroidism with low TSH level

PEHO syndrome

Nasopalpebral lipoma-coloboma syndrome

Auriculotemporal syndrome

Frey syndrome

Nephroblastoma - fetal ascitis - tumor syndrome

WARNING

Stuart ou Stuart-Prower, syndrome

Factor Stuart or Stuart-Prower, congenital deficiency in

Kounis syndrome

Sakati-Nyhan-Tisdale syndrome

Lesti-Hollister-Rimoin syndrome

ACPS

Curry-Jones syndrome

CIPO

Intracranial hypertension, idiopathic

Pseudotumor cerebri

Epilepsy with occipital paroxysms

Dubini, syndrome

Chorea, Syndenham

Bergeron, chorea

Sydenham chorea

BECOP

Oriental sore

Aleppo boil

Factor X, constitutional deficiency in

Caudal regression syndrome

Isolated deficiency in ATP synthase

Popliteal cyst

Kanner syndrome

Granulomatous infantile arthritis

Morning glory disc anomaly

Cerebello-retinal angiomatosis, familial

Rathurn disease

Phosphoethanolaminuria

Microtia-skeletal anomalies-short stature syndrome

Primary autosomal recessive microcephaly

Microcephalies

Dicarboxylic aciduria

Hypophosphatasia

BPES syndrome

Sacral agenesis syndrome

Diabetes-hypogonadism-deafness-intellectual deficit, syndrome

Woodhouse-Sakati syndrome

Spitzer-Weinstein syndrome

Chloride shunting syndrome

Sakati syndrome

CRASH syndrome

MASA syndrome

L1CAM syndrome

L1 syndrome

Camptodactyly-club foot-cleft syndrome

Arthrogryposis: distal type IIA or 3

Meier-Gorlin syndrome

Oculopharyngodistal myopathy

Amegakaryocytic thrombocytopenia

York syndrome

Oculootoradial syndrome

Tubular aggregate myopathy

Atrial myxoma

Giant omphalocele

Omphalocele

Myxoma, atrial

Digitotalar dysmorphism

CAPOS syndrome

Aspirin-like defect, syndrome

Vogt-Koyanagi-Harada disease

OPDM syndrome

Sitosterolemia

IFAP/BRESHECK, syndrome

IFAP, syndrome

Hereditary macrothrombopathies

CAP

Pericardium, congenital absence of the

Congenital absence of the pericardium

ODOD syndrome

Ataxia with lactic acidosis type 2

Botryomycoma

Flexor spasms

Pyruvate carboxylase deficiency

Congenital disseminated pyogenic granuloma

Follicular ichthyosis-atrichia-photophobia, syndrome

Deletion 13q14

Sprengel deformity

Deficiency in molybdenum cofactor

Peri-radicular cyst

Extradural arachnoid cyst

Jodasshon-Lewandowsky, syndrome

Jackson-Lawler, syndrome

Pachyonychia congenita

Inclusion body myositis

Tarlov cyst

Glossopalatine ankylosis

Ankyloglossia (superior), syndrome

Moersch et Woltman, syndrome

Congenital amegakaryocytic thrombocytopenia and radioulnar synostosis

Hemoglobin FM-Osaka

CAMT

Hip osteochondritis: primitive infantile

Diastrophic dysplasia

MSUD

Branched-chain ketoaciduria

Congenital contralateral isolated synkinesis

Congenital contralateral familial synkinesis

SNEL

Mirror movements, congenital isolated

Phytosterolemia

Paris-Trousseau thrombocytopenia

Thrombocytopenias, familial, isolated

Leishmaniasis

Stiff man, syndrome

Congenital neonatal diabetes

Baker cyst

Corpus callosum, agenesis of

Tracheal agenesis

ARCL3

Alpha-galactosidase deficiency

Anderson-Fabry disease

Al Gazali-Bakalinova syndrome

Dissecting osteochondritis: autosomal dominant

Macrocephaly with multiple epiphyseal dysplasia and peculiar features

Primary hypersomnia

Idiopathic hypersomnia

Fructosuria, essential

Spondyloepimetaphyseal dysplasias

Glycogen storage diseases

Aggrecanopathies

Hip transient synovitis

Transient synovitis of the hip

Retinoblastoma

Peters anomaly or syndrome

Growth osteochondrosis

Cataract: congenital

Congenital cataract

CIBD

Nanophthalmia

Glaucoma, congenital

Congenital glaucoma

Dysplasia: spondyloepiphyseal type Kimberley

Urethral duplication

Ohdo syndrome

Short stature - optic nerve atrophy - Pelger-Huet anomaly

NSIAD

Nephrogenic syndrome of inappropriate antidiuresis

Megalourethra

Megaurethra

Tumor lysis syndrome

Acute infantile liver failure associated with fever, syndrome of

Hemoglobin Bibba

Hartfield-Bixler-Demyer syndrome

Hartsfield syndrome

Cutis laxa type III

Dystonia type 12

Anophthalmia-microphthalmia

Siamese twins

Conjoined twins

Seitelberger disease

Neurodegeneration associated to phospholipase A2

LAPS syndrome

Heteropagus

Infantile neuroaxonal dystrophy

Short rib - polydactyly type IV

Beemer-Langer syndrome

Steel syndrome

Hyperglycerolemia

Glycogenosis type VII

Dystonia-fast onset parkinsonism

Hemoglobin Casper

NASH

Benign intrahepatic cholestasis

UDA

Spinal juvenile osteochondrosis

Juvenile kyphosis

Scheuermann disease

Whooping cough

Windmill-Vane-Hard syndrome

Stiff person syndrome

Cranio-carpo-tarsal syndrome

Perheentupa syndrome

Buphthalmos

NICCD

DIAR

Hemoglobin Southampton

Metatropic dysplasia

Citrullinemia type 2

Citrullinemia type 1

Bloch-Siemens syndrome

Aase-Smith type II

Aase syndrome

Diamond-Blackfan syndrome

Congenital upward displacement of the scapula

High scapula

TPI deficiency

Triosephosphate isomerase deficiency

Mulibrey nanism

Bladder exstrophy and its different forms

Deficiency in ATP synthase

Aposthia

Neill-Dingwall syndrome

Akinetic mutism

Cerebellar mutism

IBD

Lysosomila acid lipase A deficiency

Acid lysosomial lipase A deficiency

Priapism

NDH syndrome

IPEX

Diabetes mellitus: congenital neonatal with hypothyroidism

NAFLD 

Exstrophy

Arterial tortuosity syndrome

Cerebral reversible vasoconstriction syndrome

Congenital intractable diarrhea with epithelial anomalies

Microvillous atrophy, congenital

Davidson disease

Syndromic diarrhea

Trichohepatoenteric syndrome

Microvillus inclusion disease

Tufting enteropathy

Intestinal epithelial dysplasia

Secretory sodium diarrhea, congenital

Secretory chloride diarrhea, congenital

Anophthalmia-microphthalmia linked to SOX2 gene

Diabetes mellitus: congenital neonatal

Busche-Ollendorf, syndrome

Mandibulo-facial François type dysmorphism

CAMS

Bonnet-Dechaume-Blanc syndrome

Retino-encephalo-facial angiomatosis

Carotid artery agenesis

Wyburn-Mason syndrome

Hemoglobin Kansas

Ring-14 chromosome syndrome

Perisylvian syndrome, bilateral,  congenital

Finlay-Marks, syndrome

COFG, syndrome

Keipert, syndrome

Van den Berghe-Dequeker syndrome

Naso-digito-acoustic syndrome

Osteopoikilosis

Neutropenia, chronic benign familial 

Neutropenia, benign chronic infantile

Chronic infantile neutropenia

Melorheostosis

Ubiquitous glucose-6-phosphatase deficiency

Ulnar aplasia - split foot syndrome

Platypnea - orthodeoxia, syndrome

Deletion 2q32-33

Glass syndrome

Congenital dyskeratosis

Malabsorptive congenital diarrhea by dysgenesis of enteroendocrine cells 

Disseminated lenticular dermatofibrosis

Neonatal marfan syndrome

5-oxoprolinase, deficiency

Brauer-Setleis syndrome

Brauer syndrome

Setleis syndrome

PURA syndrome

FFDD

Focal Facial Dermal Dysplasia

TARP syndrome

OCTD

Leiden factor V

G20210/A mutation of the prothrombin gene

Dysosteosclerosis

Marfan, neonatal syndrome

Acrofacial dysostosis

Factor II of Leiden, mutation 

Woakes syndrome

Sprinz-Nelson syndrome

Hyperbilirubinemia type 2

Oculopharyngeal muscular dystrophy

Dubin-Sprinz syndrome

Epidermolysis bullosa junctionalis with pyloric atresia

Carmi syndrome

Limb-Girdle Dystrophies

Metaphyseal dysplasia: familial

Pyle syndrome

Okamoto syndrome

MASS syndrome

Hereditary inclusion body myopathy type 2

Ciliary dyskinesia: primitive 

Telomeropathies

PARK

Childhood migraine

Migraine in children and adolescents

Jael syndrome

Cystic fibrosis

Early-onset parkinson disease

Morbihan syndrome

DYT5

Low phospholipid-associated cholelithiasis

Multisystemic atrophy

Inclusion body type 2 myopathy

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

GNE myopathy

Nonaka myopathy

LPAC syndrome

Intellectual deficit - obstructive sleep apnea - mild dysmorphism associated to AHDC, syndrome

Spinal infantile amyotrophia

Spinal amyotrophias

Congenital myopathies

Visceral myopathy: congenital

Xia-Gibbs syndrome

Sedlackova syndrome

Monosomy 22q11

Conotruncal and facial anomalies, syndrome

Distal myopathy with rimmed vacuoles

Zimmer phocomelia

Acrofacial or acrodental Weyer type dysostosis

Acrofacial post-axial dysostois

Cleidocranial dysostosis

Hackmann-Di Donato syndrome

FGS

Methylene-tetrahydrofolate reductase, deficiency in

Hyperhomocysteinemia

Biermer anemia

Vitamin B12 deficiency

OCT, deficiency in

Glycerol-kinase, complex deficiency in

Alice in Wonderland syndrome

Schinzel phocomelia

Epispadias

Familial angioneurotic edema

Todd syndrome

Deafness-cataract-skeletal anomalies, syndrome

Shy-Drager syndrome

Perry syndrome

Parkinson Plus

Bulbar paralysis: progressive, childhood

Nathalie syndrome

Riboflavine (vitamine B2) carrier deficiency

Fazio-Londe disease

Focal epilepsy: familial, with variable foci

Orofacial impalement

Tetra-amelia-multiple anomalies, syndrome

Thiamine, deficiency in

Epileptic encephalopathy with "bursts-suppression"; early infantile

Cosack syndrome

Acromelia-oligodontia

Pyroglutamic aciduria

N-acetyl-aspartic aciduria

Mevalonic aciduria

Alpha-methylaceto-acetic aciduria

3-methylglutaconic, acidurias

3-hydroxy-3-methylglutaric aciduria

Vitamin B1, deficiency in

Carnitine carrier, deficiency in

Acheiropodia

Thymidine phosphorylase, deficiency in

Buttiens-Fryns syndrome

T2, deficiency in

Sulfide oxidase, deficiency in

Pyruvate-kinase, deficiency in

Pyrimidine 5' nucleotidase, deficiency in

Proopiomelanocortine, deficiency in

Phosphorylase b-kinase, deficiency in

Phosphoglycerate mutase 2, deficiency in

Phosphoglycerate kinase, deficiency in

Phosphoglucomutase 1, deficiency in

Mitochondrial acetyl-CoA thiolase, deficiency in

MCT8, deficiency in

Hydroxy-methylglutarylCoA lyase, deficiency in

Monocarboxylate carrier 8, deficiency in

Carbonic anhydrase II, deficiency in

Carbonic anhydrase II, deficiency in

Thoracoabdominal syndrome

Pulmonary stenosis-brachytelephalangia-cartilage calcification, syndrome

Osteopetrosis: autosomal recessive type III with renal tubular acidosis

Osteopetrosis: secondary hypertrophic with pernio

OPBT

Osteopetroses; autosomal recessive

Amyotrophy-fat tissue anomaly syndrome

Nakajo-Nishimura syndrome

Keutel syndrome

Guibauld-Vainsel syndrome

Oromandibular-shortening of the limbs syndrome

CA-VA, deficiency in

Chitayat syndrome

TRALI

Pectus arcuatum

PBFC

Lipodystrophy: generalized, congenital

FHUFS

Femorofacial syndrome

Os odontoideum

OEIS, complex

Laryngeal duplication

Solamen, syndrome

PHTS, group

Saul-Wilson dwarfism

Encephalopathy with hyperammonemia by carbonic anhydrase VA deficiency

WDHA

Cataract-microphthalmia-radiculomegaly-cardiac septal defect, syndrome

OCFD syndrome

Oculo-cardio-facio-dental syndrome

Lenz-Majewski nanism

MOPD type II

Microphthalmia: syndromic type 2

Lenz microphthalmia

Majewski syndrome (2)

Liberfarb syndrome

Lenz-Majewski syndrome

Lenz syndrome

Hepatic glycogen synthase, deficiency in

Unroofed coronary sinus

Autosomal dominant intellectual deficit-craniofacial anomalies-hypotonia-cardiopathy

Verner-Morrison syndrome

VIPoma

Femininzing testicle

Pseudohermaphrodism XY

Reifenstein syndrome

Proud-Levine-Carpenter, syndrome

Microcephaly-agenesis of the corpus callosum- genital abnormalities, syndrome

Proud syndrome

NEDIM

Androgen insensitivity syndrome

Hypospadias

Neutrophilic chronic atypical dermatosis - lipodystrophy - fever, syndrpome

Harel-Yoon syndrome

Middle aortic syndrome

GNAO1 encephalopathy

Quebec platelet disorder

Paraesophageal hernia

Diaphragmatic hernia, congenital

Congenital diaphragmatic hernia

CRS

Cytokine Release Syndrome

Bonnevie-Ullrich syndrome

Monosomy X

Pemphigus

Iniencephaly

Linear atrophoderma of Moulin

Exostoses: multiple

Moulin, linear atrophoderma

KAT6A syndrome

Descending aorta coarctation

Gentile, syndrome

Amaurosis

Hyperphenylalaninemic embryopathy

Phenylketonuria, maternal

Maternal phenylketonuria, syndrome

Dwarfism with stiff joints and ocular abnormalities

Spanger geleophysic dwarfism

Moore-Federman syndrome

Geleophysic dysplasia

Acromicric dysplasia

Retinocytoma

Meckel's diverticulum

Noonan syndrome-like disorder with loose anagen hair

Neurolipomatosis

MLASA

Lumbo-costo-vertebral syndrome

Fryns-Aftimos syndrome

Cerebro-fronto-facial type 3 syndrome

Baraitser-Winter syndrome

Frantz tumor

Tosti syndrome

Teebi hypertelorism

Brachy-cephalo-fronto-nasal dysplasia

Teebi syndrome

Andes mountains sickness

Mazzanti syndrome

High altitudes polycythemia

Cephalopolysyndactyly

Greig syndrome

Mandibulo-palpebro-ptosis synkinesis

Congenital facial synkinesies

Hemoglobin Titusville

Lipoprotein lipase, deficiency in

Deficiency in lipoprotein lipase

Camp(t)omelic dwarfism

Camp(t)pomelic acampomelic dysplasia

Camp(t)omelic dysplasia

Boylan-Dew-Greco syndrome

Areflexic dystasia: hereditary

Noonan-like syndrome

Cerebro-facio-articular syndrome

JMP

Lipedema

Dercum, disease

Ladd, bands

Neuroleptic Malignant syndrome

Gerbode's anomaly

Chorea-acanthocytosis

Acanthocytosis

Scombroid syndrome

Mennonites

Scabies

Monge disease

Verloes-Van Maldergem-de Marneffe syndrome

LCCS

Van Maldergem syndromes

Tatton-Brown-Rahman syndrome

Smith-Kingsmore syndrome

Nance-Horan syndrome

Microspherakia-metaphyseal dysplasia

Hand-Foot-Genital syndrome

craniosynostoses

Craniostenoses

Sacrococcygeal teratoma

Ptosis-iridic coloboma-intellectual deficit, syndrome

CMS (chronic mountain sickness)

Chronic mountain sickness

Amish

HSAS

Van den Ende-Gupta syndrome

Deficiency in prolidase

Prolidase, deficiency in

Hemoglobin para-Bombay

Hemoglobin hh

Blood group H

Hemoglobin Bombay

Chudley-Mc Cullough syndrome

Intestinal polyps-spots syndrome

Peutz-Jeghers syndrome

Otocephaly

Koussef-Nichols syndrome

Hydrocephalus: X-linked with stenosis of aqueduc of Sylvius

Marden-Walker-like syndrome

Bullous epidermolyses

CRMCC

Coats plus disease

Bickers-Adams syndrome

Neonatal lupus

Blepharophimosis-intellectual deficit: Ohdo type syndrome

Blepharophimosis Ohdo type

Adenoendocrinosis

Say-Barber-Biesecker-Young-Simpson syndrome

Absent patellae-hypoplasic scrotum-renal anomalies-facial dysmorphy-intellectual deficit syndrome

X-linked Ohdo syndrome

Maat-Kievit-Brunner syndrome

Cerebroretineal microangiopathy with calcifications and cerebral cysts

Central diffuse myelinosis

Nutcracker syndrome

Achalasia

Congenital muscular dystrophies

Muscle dystrophies: congenital

Charlie M syndrome

EA2

EA1

Familial paroxysmal ataxia with myokymia

Episodic ataxias: other types

Episodic ataxia type 2

Episodic ataxia type 1

Episodic ataxia, familial

Von Recklinghausen disease

Spinocerebellar ataxia type 3

Hyperiminodipeptiduria

SCA3

VWM syndrome

Machado-Joseph disease

Kagami-Ogata syndrome

Congenital lobar emphysema

Congenital cataract-facial dysmorphy-neuropathy

CACH syndrome

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type I

Ataxia with pigmentary retinopathy

Spinocerebellar ataxias

Congenital hypomyelinizing neuropathy

Infantile ataxia with diffuse central nervous system hypomyelinisation

Spondylocostal dysplasia

Lipomatosis, symmetric, painful

Immuno-osseous - Schimke dysplasia

Mandibulo-acral dyplasia

 Maxillo-nasal dysplasia

Metatropic type II dysplasia

Oculo-auriculo-vertebral dyplasia

Oculo-skeletal dysplasia

Olfacto-genital - Kallmann - De Morsier dysplasia

Osseous familial dysplaia

Osseous osteosclerotic dysplasia: lethal

Pseudometatropic dysplasia

Frontometaphyseal dyplasia

Septo-optic dysplasia

Faciogenital dyplasia

Spondyloepiphyseal dysplasia with nephrotic syndrome

Spondylometaphyseal dysplasias

Spondyloepiphyseal type Kimberley dysplasia

Spondylothoracic dysplasia

Right ventricular arhythmogenic dysplasia

Spinal dyraphisms

Vesico-sphincteral dyssynergy: functional

Dopa-sensible dystonia

Hereditary progressive dystonia with diurnal fluctuations

Fast-onset parkinsonism - dystonia

Girdles dystrophies

Muscular dystrophies

Renal multicystic dysplasia

Anauxetic dysplasia

Hereditary thrombophilia due to a mutation of the prothrombin

Joint contractures, Muscle atrophy, microcytic anemia and Panniculitis-induced lipodystrophy

CANDLE syndrome

Autoinflammatory syndromes linked to proteasomes

Craniofacial dysostosis

Mandibulofacial dysostosis, Guion Almeida type

Microcephaly syndrome

Mandibulofacial dysostosis

Acro-dento-oseous dysplasia

Acromandibular dysplasia

Acromesomelic type Grebe dysplasia

Frontonasal dysplasia

Acromesomelic type Hunter-Thompson dysplasia

Muscular facio-scapulo-humeral type dystrophy

Arterio-hepatic dysplasia

Atrio-digital type 1 dysplasia

Caudal dysplasia

Cerebro-facio-thoracic dysplasia

Chondroectodermic dysplasia

Cranio-cerebello-cardiac dysplasia

Cranio-ectodermic dysplasia

Dermic-cerebellotrigeminal dyplasia

Diaphyseal progressive dysplasia

Dolichospondylitic dysplasia

Ectodermic - anhidrotic dysplasia

Ectodermic type 3 dysplasia

Acromesomelic type Maroteaux dysplasia

Torus palatinus

Diaphano-spondylo-dysostosis

Antopol disease

Atypical cholinesterases

Smooth muscle dysfunction syndrome

Hereditary hyperexplexia

Doubled-chambered right ventricle

Stalker-Chitayat syndrome

Schaaf-Yang syndrome

Hypomelanosis of Ito

Triple X syndrome

XXX syndrome

Muscular dytrophy with micropolygyria

Trisomy 16

Congenital galactosemia

Epidermic hamartoma

Gilles de la Tourette syndrome

Spina bifida

Oculocerebrofacial, Kaufman type syndrome

Myelomeningocele

Meningocele

Meningocele manqué

Freeman-Sheldon syndrome

Wiedemann-Steiner syndrome

Hypophyseal dwarfism type 2

Globoid cells leucodystrophy

DOOR syndrome

Trisomy X

XLP

Cardiac ectopia

Muscular hypertonic dystrophy: affecting native Canadians

Muscular oculopharyngeal dystrophy

Myotonic dystrophies

Osteochondromuscular dystrophy

Thanatophoric dystrophy

Eosinophilic pneumopathy: chronic idiopathic

Amsterdam dawarfism

Carrington, disease

Bushy, syndrome

Inferior vena cava , congenital anomalies of the

Inferior vena cava, agenesis

Robinow-Sorauf syndrome

Duncan, disease

Aceruloplasminemia

PPB familial tumor and dysplasia syndrome

Bantu siderosis

Purtilo syndrome

Macrocephaly-intellectual deficit-autism, syndrome

Hemochromatosis

Hereditary hemochromatoses

GLOW, syndrome

DICER1, syndrome

Pleuropulmonary blastoma

Bradydactyly-elbows and wrists dyplasia, syndrome

Liebenberg syndrome

Muscular congenital dystrophies

Ferroportine, disease

Congenital long QT syndrome

Illum syndrome

Chromosome 18q, distal deletion

Chromosome 18p, proximal deletion

Aymé-Gripp syndrome

White-Sutton syndrome

Hyperlipoproteinemia type 1

Burger-Grutz type hyperlipemia

Folates intracerebral transport deficit

Familial chylomicronemia

Collagenous gastritis

AMOTL1 gene mutations

Microdeletion 6q16

Desmogleine proximal 18q gene deletion

Actinopathies

Partial monosomy 21q

Monosomy 21

S-adenosylhomocysteine hydrolase deficiency

Sneddon syndrome

Adenosine deaminase 2 deficiency

doi: 10.4103/0970-1591.70592

Zinner syndrome

Laryngeal cysts

Bow Hunter syndrome

Gabriele-de Vries syndrome

Aldehyde dehydrogenase 1, Family Member A2, associated anomalies

Pyogenic granuloma

BRIC

Aminoaciduria: hyperdibasic type II

Donnai-Barrow, syndrome

Ochoa, syndrome

Guanidinoacetate methyltransferase, deficiency in

COACH, syndrome

Ullrich myopathy

Hauptmann-Tannhauser, muscular dystrophy

Cor triatriatum

Bethlem, myopathy

Alexander, disease (2)

Ogilvie, syndrome

POIC

Deletion 6q

Lysinuric protein intolerance

Lethal congenital contractures syndrome

PANDAS

Ismerlund-Gräsbeck, disease

Deficiency in hydroxy-methylglutarylCoA lyase

Coats, disease

Bestrophinopathies

Wagner vitroretinal degeneration

Wagner syndrome

Vitreoretinal choroidopathy, autosomal dominant

Vitreoretinal dysplasias

Syphilis: congenital

Congenital syphilis

Polymorphic erythema

Chronic intestinal pseudoobstruction (CIPO)

Pierpont syndrome

Congenital myopathy with tremor

RIME

Neuro-ocular, linked to DAGLA, syndrome

Patent ductus arteriosus - facial dysmorphism - fifth finger abnormalities, syndrome

Neuronal intranuclear inclusions, disease

Dilated cardiomyopathy - hypergonadotrophic hypogonadism, syndrome

Cardiogenital syndrome

Najjar syndrome

Malouf syndrome

Bronchogenic cyst

Heart-hand syndrome

FXTAS

Plantar lipomatosis - facial dysmorphism - developmental delay, syndrome

CFEOM

iDEND syndrome

DEND syndrome

Laryngeal dyskinesia

Laryngeal dysfunction, episodic

Jeavons syndrome

Andy Gump syndrome

Brachial plexus neonatal paralysis

Schwannomatosis

Oto-facio-cervical syndrome

Neurofibromatosis type III

Primary central apnea, syndrome

Central apnea, primary, syndrome

Char syndrome

Ectodermic dysplasias

Megacolon-microcephaly syndrome

Goldberg-Shprintzen syndrome

Pulmonary bronchodysplasia

Mirhosseini-Holmes-Watson syndrome

Neonatal lethal spasticity - epileptiform encephalopathy

NEDCAS

BRAT1 encephalopathy

Heyde syndrome

VEXAS syndrome

Opsismodysplasia

Brachyolmia

Extraocular muscles congenital fibrosis

MORM syndrome

FOAR syndrome

Deletion 18 p

Distal myopathies

Foramen ovale

Patent foramen ovale

Congenital paramyotonia

Tibial muscular dystrophy

AHEI

Acute hemorrhagic edema of infancy

Juvenile xanthogranuloma or xanthogranulomatosis

Non-Langerhans histiocytosis

Xanthogranulomatosis or juvenile xanthogranuloma

CAH-X syndrome

OPSI syndrome

Kindler, syndrome

Facio-oculo-acoustico-renal syndrome

Spastic paraparesis

Spastic paraplegia: familial

Usher syndrome

Gusher, syndrome

Nesidioblastosis

Hyperinsulinism: congenital

Gunther, disease

DRESS syndrome

Laryngo-onycho-cutaneous, syndrome

CADASIL

Multiple lentigines, syndrome

L.O.C., syndrome

Lentiginosis, cardiomyopathic 

Gelineau, syndrome

Familial hypokaliemia and hypomagnesemia

Dystrophy, thanatophoric

Sarcoglyconopathies

Erb, myopathy

Dystrophies of the girdles

LUMBAR syndrome

SC-phocomelia syndrome

Landau-Kleffner, syndrome

Aphasia: acquired during infancy with epilepsy

SC syndrome

Roberts syndrome

Shabbir syndrome

Scholz disease

Cardiovocal syndrome

Ortner syndrome

Anaplasmosis: granulocytic, human

Alpha-methyl-CoA racemase (AMACR) deficiency

MEDNIK-like syndrome

Lodder-Merla syndrome

Huppke-Brendel syndrome

Robinow-Unge syndrome

Otofacial neurodevelopmental syndrome

Osteopathia striata with cranial sclerosis

Hepatoadrenal syndrome

Strümpell-Lorrain disease

Nelson syndrome

Hyperglycinemia, non-ketotic

Greenfield disease

Metachromatic leukodystrophy

CLAPO syndrome

SOFT syndrome

Lamb-Shaffer syndrome

Otodental dysplasia

Congenital deafness

SMVTD

COMNB

Sodium-dependent multivitamin transporter deficiency

ALK positive histiocytosis

Histiocytoses: classification

Sting Associated Vasculopathy with onset in Infancy

Dystrophy: oculopharyngeal muscular 

Warkany syndrome

Microdeletion 22q11.2

Dysplasia: spondylothoracic

Dysplasia: spondylocostal

Jarcho-Levin, syndrome

Senior-Boichis syndrome

Rosai-Dorfman disease

Leber optic neuropathic, herediatry

Nephronophthisis familial juvénile

Loken-Senior, syndrome

Leber: congenital amaurosis (LCA)

Klippel-Trenaunay, syndrome

Kleine-Levin, syndrome

Epilepsy: infantile myoclonic severe

Churg-Strauss, syndrome

Barbeau, disease

Angiitis: allergic granulomatous

Melnick-Needles, syndrome

Long-chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

Frank-Ter Haar, syndrome

Ricker syndrome

Proximal Myotonic Myopathy

Malpuech, syndrome

Native Americans myopathy (NAM)

GAPO, syndrome

Clubfoot

Crisponi, syndrome

CCA syndrome

Filippi, syndrome

Myasthenias: congenital

Dysplasia: diaphyseal progressive

Camurati-Engelmann, syndrome

Asperger, syndrome

Dysplasia: pseudometatropic

Dysplasia: metatropic type II

Dysplasia: Kniest

Swiss Cheese cartilage syndrome

Kniest, syndrome

Shprintzen-Goldberg syndrome

Dutch-Kentucky, syndrome

Trisomy 8

Furlong, syndrome

Trisomy C

Beals-Hecht, syndrome

Beals, syndrome

Cerebrotendinous xanthomatosis

Rasmussen, syndrome

Dysplasia: dermic cerebellotrigeminal

Gomez-Lopez-Hernandez, syndrome

Tricho-rhino-phalangeal syndrome

Langer-Giedion, syndrome

Cantrell, pentalogy

Kunze-Riehm, syndrome

Michelin tyre baby, syndrome

De Barsy, syndrome

Loeys-Dietz, syndrome

Cutis laxa autosomic recessive type Debré

Microlithiasis, alveolar pulmonary

Dwarfism: Laron type

Liddle, syndrome

Growth hormone insensitivity syndrome

Laron, syndrome

Carcinoid, syndrome

Alagille-Watson syndrome

Delta-storage pool disease

Platelet storage pool disorder, disease

Marie-Sainton, syndrome

Walt Dysney dwarfism

Pseudohypoaldosteronism type 1

Osteodysplastic gerodermia

Infantile granulomatous arthritis

ARCL2

ARCL1

Perrault, syndrome

Dysplasia: spondylo-epiphyseal congenital

Roger disease

Pseudoachondroplasia

Pierre-Robin-hyperphalangia-clinodactyly

Palato-digital type Catel-Manzke, syndrome

Monosomy 10 p

Microdeletion chromosome 10

Feingold 2, syndrome

Dysplasias: spondylo-epi-metaphyseal

Myhre syndrome

Levy-Hollister syndrome

Ice axe foot

Diffuse pulmonary lymphangiomatosis

Lymphangiomatosis, pulmonary, diffuse

Neuroendocrine cells hyperplasia in infancy

German syndrome

Alveolar capillary dysplasia, congenital

Congenital acinar dysplasia

Acinar dysplasia: congenital

Small rotula syndrome

Ischiopatellar dysplasia

Scott-Taor syndrome

Intrahepatic biliary tracts paucity

Loucks-Innes syndrome

Dystrophies: muscular

LARD syndrome

LADD syndrome

Lacrimoauriculodentodigital syndrome

Hemoglobin PKU

Hemoglobin O Arab

Hemoglobin D Punjab

Migrating partial epilepsy

EIMFS

Epilepsy of Infancy with Migrating Focal Seizures

DPH1 syndrome

DEDSSH syndrome

ALSG syndrome

MPSI

SADDAN syndrome

Pulmonary hypertension

Thoracoschisis

TACRD syndrome

Schizencephaly

MPPH

Jaffe-Campanacci syndrome

Alpha-tryptasemia: hereditary

Mast cell activation syndrome

Carbamyl phosphate synthetase II deficiency

Urea cycle disorders

Carbamyl phosphate synthetase I deficiency

Deletion 10pter

Tracheal diverticulum

Hoyeraal-Hreidarsson, syndrome

Ichthyosis: congenital

Hypochondroplasia

Microgastria, congenital

NIID syndrome

KINSSHIP syndrome

Cognitive deficit - coarse facial features - cardiac malformation - obesity - pulmonary involvement - short stature, syndrome

CHOPS syndrome

Restrictive familial cardiomyopathies

Restrictive cardiomyopathies

Non-compaction familial cardiomyopathies

Dilated familial cardiomyopathies

Alacrima, congenital

Bronchopulmonary foregut malformations

DMC, syndrome

Malpaghi disease

Phelan-McDermid, syndrome

Monosomy 1p36

Deletion 22q13

Deletion 1p36

Golabi-Rosen, syndrome

Proteus syndrome

Nevo, syndrome

Gigantism

Cramer-Niederdellmann, syndrome

Smith-McCort dysplasia or syndrome

Sandhoff disease

Dyskeratosis: congenital

Pseudo-Morquio type 1, disease

Halasz, syndrome

Dyggve-Melchior-Clausen, syndrome

Pseudo-Hurler, syndrome

Landing, syndrome

Cortical infantile hyperostosis

Gangliosidosis GM1

de Toni-Caffey, disease

Caffey-Silverman, syndrome

Caffey, disease

Zinsser-Cole-Egmann syndrome

Congenital venopulmonary syndrome

Revesz syndrome

Catel-Manzke, syndrome

Samter triad

Kohlmeier-Degos-Delort-Tricot syndrome

Alveolar pulmonary microlithiasis

Hypereosinophilic syndrome

SMA-LED

Eosinophilic granulomatosis with plolyangeitis

MRD8

GRIN1 encephalopathy

Encephalopathy GRIN1

Galloway syndrome

ZTTK syndrome

Lipschütz ulcer

Malignant atrophying papulosis

Knobloch-Layer syndrome

Myopathy, congenital, with tremor

FINCA syndrome

Kohlmeier-Degos, disease

Hemoglobin Sabine

Progressive ossifying myositis

Progressive osseous heteroplasia

Fibrous dysplasia of the bone

Pelviscapular dysplasia

Scapuloiliac dysostosis

Kosenow, syndrome

Cousin, syndrome

Multiple paragangliomas with erythrocytosis

Paragangliomas

Pacak-Zhuang syndrome

MYOTREM

MTDPS

Hemoglobin Genova

EVR

Spondyloepiphyseal dysplasia - retinal dystrophy - immune deficit, syndrome

Criswick-Schepens syndrome

Exsudative vitreoretinopathy: familial

Roifman syndrome

Short stature - skeletal dysplasia - retinal degenerescence - intellectual deficit - neurosensory deafness, syndrome

Persistent primary vitreous

Urogenital sinus

Persistent cloaca

Anorectal malformations

Knobloch syndrome

Navajo neurohepatopathy

Wieacker-Wolff syndrome

Mitchell-Riley syndrome

Martinez-Frias, syndrome

CIPA

OCA

Thanatophoric dwarfism

Ocular albinism

Lacrimal and salivary glands aplasia

Achondrogenesis

Pericardial agenesis

Retinoma

Congenital dyserythropoietic anemia

Dyserythropoietic anemia: congenital

Female hypospadias

X-linked hypophosphatemia

4-hydroxybutyric aciduria

SSADH syndrome

Succinic semialdehyde dehydrogenase deficiency

Osgood-Schlatter syndrome

Nezelof syndrome

Immune defect due to absence/hypoplasia of thymus

Thymic aplasia

Aldehyde dehydrogenase deficiency

Arrhythmogenic right ventricular dysplasia

SYNGAP1 syndrome

Moeschler-Clarren syndrome

Familial erythrocytoses

Hypophosphatemia: X-linked

Autosomal Recessive Agammaglobulinemia

Twin-to-twin transfusion syndrome

Posterior urethral valve

Anterior urethral valve

Vesicoureteral reflux

Urethral atresia

Congenital tracheal stenosis

Chronic Multifocal Recurrent Osteomyelitis

CMRO

ChILD syndrome

Persistent tachypnea of infancy

Puhr disease

NEHI

Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Takenouchi-Kosaki syndrome

Convex pes valgus

Tonic upgaze syndrome

Intellectual deficit- developmental delay - contractures syndrome

Contractures of feet - muscle atrophy - oculomotor apraxia, syndrome

CLIFAHDD

STAC3-related congenital myopathy

Fatal familial insomnia

Ohdo-Madokoro-Sonoda syndrome

Hallux duplication

Blepharophimosis-intellectual deficit: SBBYS type syndrome

Young-Simpson syndrome

Hallux bifidus

Alveolar pulmonary proteinosis

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly, syndrome

PAPHG syndrome

X-linked agammaglobulinemia

DEE28

WOREE, syndrome

Swyer syndrome

Periventricular nodular heterotopias

Fleisher syndrome

Partial gonadal dysgenesis

Bruton, disease

Spinocerebellar ataxia, autosomal recessive type 12

Agammaglobulinemia, non X-linked

ARAG

Ouvrier-Billson syndrome

Gerstmann-Straussler-Scheinker, syndrome

NF1-like, syndrome

Triple H syndrome

Temple-Baraitser syndrome

CODAS syndrome

Birt-Hogg-Dubé, syndrome

Congenital torticollis

Pierre Robin sequence-hyperphalangia-clinodactyly

RASopathies

Noonan syndrome, with lentiginosis

Mallory-Weiss, syndrome

Boerhaave, syndrome

Cortical generalized hyperostosis

Fibrofolliculoma with trichodiscoma and acrochordons

Neurofibromatosis 1-like, syndrome

Cerebro-oculo-dento-auriculo-skeletal, syndrome

Van Buchem syndrome

Sclerosteosis

Legius, syndrome

Cardio-facio-cutaneous, syndrome

Wong syndrome

ICF1 syndrome

Deficiency in vitamin B1

Beriberi

Avitaminosis B1

Deficiency in thiamine

Braegger, syndrome

Bertolotti, syndrome

Hyperphosphatasemia: late

Lane-Hamilton, syndrome

AEG, syndrome

HHH, syndrome

Retino-cochleo-cerebral vasculopathy

SICRET syndrome

Susac syndrome

RED M syndrome

Hemoglobin Saint Mandé

Monosomy 11q (distal)

Deletion 11q (telomeric)

Deletion 11q (distal)

Singleton-Merten dysplasia / syndrome

Hornstein-Knickenberg, syndrome

Lipomatosis: encephalo-cranio-cutaneous

LAL, deficiency in

Idiopathic pulmonary hemosiderosis

Pulmonary hemosiderosis

Heiner, syndrome

Haberland, syndrome

Fishman, syndrome

Trichomegaly-pigmentary retinian degeneration-growth retardation

Oliver-McFarlane, syndrome

Lymphocytic thyroiditis: chronic

Autoimmune thyroiditis

Alternating hemiplegia of childhood

Hashimoto, thyroiditis

Hashimoto, encephalitis

Keppen-Lubinsky syndrome

Microphthalmia type 3

Dermatopolymyositis

Dermatomyositis

Bassen-Kornzweig, disease

Matthew-Wood, syndrome

Marden-Walker, syndrome

C d'Opitz, syndrome

C, syndrome

Amyotrophic lateral sclerosis

Lou Gehrig, disease

Bart, syndrome

Pyloric atresia

Cholesterol esters storage disease

Rogers syndrome

Cast, syndrome

MFDM, syndrome

MCOPS3

Head nodding syndrome

Posner-Schlossman, syndrome

Nodding, syndrome

Tongue-tie

Dysostosis: mandibulofacial, microcephaly syndrome

Kommerell: diverticulum

Esophageal atresia

Lusoria artery

Aortic arch, anomalies

Mandibular hypoplasia - deafness - progeroid appearance - lipodystrophy syndrome

Lafora, disease

PORD, syndrome

Dibasic proteins intolerance with lysinuria

Deficiency in LAL

Enhanced S-cone, syndrome

Goldmann-Favre, syndrome

Deficiency in acid lysosomal lipase A 

Ulick syndrome

SIOD

Schimke syndrome

I cell disease

Dysplasia: spondylo-epiphyseal - nephrotic syndrome

Duplication 17p11.2

Deficiency in 11-B-hydroxysteroid déhydrogenase cortisol 

Hypobetalipoproteinemia: severe early

Systemic scleroderma

Polymyositis

LAMM, syndrome

Dysplasia: immuno-osseous - Schimke

AME, syndrome

Syndactyly type I with microcephaly and mental retardation

POLIP syndrome

MEPOP, syndrome

Mitochondrial neuro-gastro-intestinal encephalopathy

Deficiency in thymidine phosphorylase

Scott craniodigital syndrome, with mental retardation

Riga-Fede disease

IMAGe syndrome

Retinoschisis-hemeralopia: precocious

Aplasia: Michel's

Portal cavernoma

Hyperornithinemia - Hyperammoniemia - Homocitrullinuria

TAFRO syndrome

Kocher-Debre-Semelaigne syndrome

Van Wyk-Grumbach syndrome

Amyand hernia

BADS syndrome

ABCD syndrome

Hypersomnia syndrome

Capillary malformation - arteriovenous malformation syndrome

Sunflower syndrome

MIRAGE syndrome

CRDS

Tooth agenesis

Hao-Fountain syndrome

Auto-brewery syndrome

Autistic spectrum disorders

Deoxyguanosine kinase deficiency

Bifid nose

Microdeletion 15q14

Sideropenic dysphagia

Kelly-Paterson syndrome

Plummer-Vinson syndrome

Natowicz syndrome

Mucopolysaccharidosis IX 

MAS

Insulin-like growth factor I deficiency

COP syndrome

Bosma-Henkin-Christiaesen syndrome 

Hypertrophic familial cardiomyopathies

Prothrombin, mutation G20210A of the

Hydranencephaly

Brunner syndrome

MAO deficiency

Fibrous polyostotic dysplasia

Lymphogranulomatosis: benign

Besnier-Boeck_Schaumann disease

BBS disease

Weissenbacker-Zweymuller syndrome

Sarcoidosis

Urban-Wiethe disease

Culler-Jones syndrome

Splenogonadal fusion - limbs transversal anomaly - micrognathia, syndrome

Mucosulfatidosis

Austin disease

Juvenile sulfatidosis

Sulfatases, multiple deficiency in

NGLY1 deficiency

NGLY1-CDDG

Focal epilepsy with speech disorders, with or without mental retardation

Alacrima - choreoathetosis - hepatopathy, syndrome

Aromatic L-amino acid decarboxylase deficiency

Keller syndrome

Opitz-Kaveggia syndrome

Sumner-Lewis syndrome

BAMS

Leprosy

PANK

Genetic obesity

Obesity of genetic origin

Best disease

Zimmermann-Laband syndrome

Syndactylies

Brachydactyly - arterial hypertension, syndrome

WABS

Warsaw Breakage syndrome

Cenani-Lenz, syndrome

Hansen, disease

Hemoglobin Mizuho

Senator syndrome

Aphalia

Isolated portal hypertension

Banti, syndrome

FPIES

Eosinophilic esophagitis

Mohr-Tranebjaerg, syndrome

HUPRA, syndrome

Anton-Babinsky, syndrome

Lutz-Darier-White, disease

Ataxia - hypodontia - hypomyelinisation

Red ear, syndrome

HHHH, syndrome

4H, syndrome

Banti-Senator, syndrome

Olmsted syndrome

G6PD, deficiency in

Splenogonadal fusion

Gelastic epilepsy

Dengue

Hypothalamic hamartoma

Good syndrome

Malaria

Nonepileptic psychogenic seizures

CNEP

Van Esch-O'Driscoll syndrome

X-linked reticulate pigmentary disorder

Partington disease

HARP syndrome

ADNP syndrome

NBIA-1

Helsmoortel - Van der Aa syndrome

Duodenal atresia

Wells syndrome

Pancreas divisum

Annular pancreas

Mahvash disease

Shashi-Pena syndrome

Bainbridge-Ropers syndrome

Schuurs-Hoeijmakers syndrome

Skraban-Dierdorff syndrome

Riley-Smith syndrome

Lutembacher syndrome

HVDAS

Myopathies: congenital

Thrombotic microangiopathies

Pectus carinatum

Sternal cleft

Björk, syndrome

Cap myopathy

Borrone, dermato-cardio-skeletal type syndrome 

Stormorken-Sjaastad-Langslet syndrome

Dermato-cardio-skeletal, syndrome, Borrone type

Cardiomyopathy: tako-tsubo type 

Stress cardiomyopathy

Ballooning: transient apical ventricular, syndrome

Chicken breast syndrome

Nicolau, syndrome

Funnel chest

Dysplasia: frontometaphyseal

Klüver-Bucy, syndrome

Gorlin Cohen, syndrome

PLRS

MAD

Lawrence-Seip, syndrome

Lawrence, syndrome

Köbberling, syndrome

FPDL

Dysplasia: acromandibular

Lipodystrophies:partial

Lipodystrophy: generalized acquired

Tako-Tsubo syndrome

HNPP

Ankyloglossia

3C, syndrome

Costeff, syndrome

Behr, syndrome

Aciduria: 3-methylglutaconic type 5

Aciduria: 3-methylglutaconic type 4

Aciduria: 3-méthylglutaconic type 3

Aciduria: 3-methylglutaconic type 1

Acidurias: 3-methylglutaconic

Tomaculous neuropathy

Microdeletion (heterozygotus)17p11 .2p12

Pectus excavatum

Larrey, hernia

BSCL

Neuropathy, hereditary, with liability to pressure palsies

MOTA syndrome

BNAR syndrome

Mitochondrial diseases

Opiz trigonocephaly C

Traboulsi syndrome

Spear syndrome

Richter disease or transformation

PDAC syndrome

Syndromic microcephaly type 9

Meacham-Winn-Culler, syndrome

Meacham, syndrome

Marles, syndrome

Anorexia nervosa

Arboleda-Tham syndrome

LEPID

Familial hypercholanemia

CHAPLE syndrome

Neurofibrinopathy

Anevrysmal bone cyst

Retrograde cricopharyngeal dysfunction

Familial periodic paralysis

Sclerosing cholangitis

NARS-1 gene related diseases

Topsy-Turvy heart

Dunnigan, syndrome

ARFID

Glial heterotopia

Mitochondrial ADN depletion syndrome

LFIT syndrome

Bietti crystalline dystrophy

Casamassima-Morton-Nance syndrome

CANVAS

RENI syndrome

Nephrotic child syndrome

Cysticercosis

Cricopharyngeal achalasia

Hyperthyroidism

Hemoglobin Hyogo

Pyruvate dehydrogenase, deficiency in

JR (Junior) blood group

Cardiac shunts

Thrombotic familial microangiopathy

CAPS (2)

Seemanova type 2 syndrome 

ROHHADNET syndrome

Nijmegen breakage syndrome

Brachial plexus acute neuritis

NBS

Cryopyrinopathies

Berlin breakage syndrome

Ataxia-telangiectasia variant 1

AT V1

Amyotrophia: nevralgic

Hantaviroses

Nijmegen, syndrome

Bile acid synthesis defect, congenital

PCD

Pancreatites: congenital

Malignant syndrome to neuroleptics

Renal hereditary hypouricemia

FHHNC without ocular impairment

HOMG3

Hypomagnesemia: renal type 3

Hypomagnesemia, primary, familial, with hypocalcemia and  nephrocalcinosis without severe ocular  involvement

Deficiency in carnitine carrier

Deficiency in CACT

Deficiency in carnitine-acylcarnitine translocase

Coffin-Lowry, syndrome

Parsonage-Turner, syndrome

Laryngeal atresia

Clefts: lip, palate, lip and palate

Marinesco-Sjögren, syndrome

Pulmonary lymphangiectasy: congenital

Laurin-Sandrow, syndrome

CCFDN

Cataracts: congenital - facial dysmorphy - neuropathy

Bartsocas-Pappas, syndrome

MADD

Diprosopus

Diprosopus

Tracheal atresia

Anti-synthetases, syndrome

Laryngeal web, congenital

Dysplasia: acromesomelic Grebe type

LCHAD

Echinococcosis

Dystrophy: facio-scapulo-humeral

Landouzy-Dejerine myopathy

Pulmonary veins stenosis

Coronary artery fistula

Macrodactyly

Body hemihyperplasia

Hemi-3, syndrome

PERM syndrome

Mondini, dysplasia

Megalodactyly

Tracheal stenosis: congenital

Polycystic kidney disease, autosomal recessive

Reno-hepato-pancreatic syndrome

Renal coloboma syndrome

RCAD syndrome

Peroneal hypoplasia/aplasia - femur incurvationr - oligodactyly, syndrome

Holoprosencephaly - renal, cardiac, radial abnormalities

Du Pan, syndrome

Grebe, syndrome

Fuhrmann-Rieger-De Sousa, syndrome

Brachydactyly: complex and fibular hypoplasia

Bosma, syndrome

Aplasia/hypoplasia of the limbs and pelvis, syndrome

Abetalipoproteinemia

Steinfeld syndrome

Neurofibromatosis type VI

Polycystic kidney disease, autosomal dominant

Phocomelia: Schinzel type

Papillo-renal, syndrome

Kystic renal diseases

Renal medullary cystic disease

Renal glomerulocystic disease

Renal cysts: acquired in association with chronic renal failure or hemodialysis

Ivemark type II, syndrome

Fuhrmann, syndrome

Dysplasia: renal multicystic

Dysplasia: acromesomelic Maroteaux type

Dysplasia: acromesomelic Hunter-Thompson type

Al Awadi-Raas-Rothschild, syndrome

Polyneuropathy with hypomyelinisation (congenital)

Shteyer syndrome

Primrose, syndrome

Exocrine pancreatic insufficiency - dyserythropoietic anemia - calvarial hyperostosis

SUNA syndrome

SUNCT syndrome

Dysplasia: oculo-skeletal

Marshall-Stickler, syndrome

Oculogenitolaryngeal syndrome

Facio-auriculo-vertebral, syndrome

3MC, syndrome

Roussy-Levy syndrome

Hemihypertrophy

Thrombotic thrombocytopenic familial purpura

Sezari syndrome

Infant hypertrophic neuropathy

Sensorimotor neuropathy, hereditary

Hypodontia-ungueal dysplasia, syndrome

Dysplasia: ectodermic type 3

Dysplasia: cranio-cerebello-cardiac

Miyoshi myopathy

Dysferlinopathy

Teeth and nails, syndrome

DCMA syndrome

Atelosteogenesis

Witkop syndrome

Upshaw-Shulman syndrome

Ritscher-Schinzel syndrome

SIBIDS syndrome

PHARC syndrome

Neurofibromatoses

Myotubular myopathy

Zebra bodies myopathy

Hyaline bodies myopathy

Myopathy: cardiosquelettic - neutropenia

Centro-nuclear myopathies

Hamamy, syndrome

Evans, syndrome

Core-rod myopathy

Angiomatosis: cutaneous and digestive

Chronic urticaria with macroglobulinemia

Raine, syndrome

Tay syndrome

Schnitzler syndrome

Sabinas syndrome

Pollitt syndrome

PIBIDS, syndrome

ONMRS

Itin, syndrome

IBIDS, syndrome

HNPCC syndrome

Dysplasia: osseous osteosclerotic lethal

BIDS

Amish-brittle hair, syndrome 

Trichothiodystrophies

Cafe-au-lait spots disease

Chronic urticaria with gammapathy