Simpson dysmorphism

Cantù, syndrome

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

Hyperthyroidism: familial non-immune

Oro-facio-digital, syndromes

Chitayat-Hall syndrome

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

Blue-white-red vasomotor dermatosis

Papillon-League-Psaum, syndrome

Xq distal duplication

Deletion Xp21, syndrome

Nasopharyngeal carcinoma

Dysanapsis

Danbolt-Closs syndrome

Enteropathic acrodermatitis

DNA ligase IV syndrome

Satoyoshi syndrome

LIG4 syndrome

Blood group Rhnull

Facial duplication

Non-immune familial hyperthyroidism

MATD

Angiomatosis: cutaneomeningospinal 

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

MECP2 duplication syndrome

Temple syndrome

Savant syndrome

SBMA

Waardenburg syndrome

Cobb, syndrome

Wilson-Mikity syndrome

Wilson disease

Williams syndrome

Wildervanck-Smith syndrome

Wiedemann-Beckwith syndrome

Whistling face syndrome

Wermer syndrome

Von Willebrand disease

Werdnig-Hoffmann disease

Wohlfart-Kugelberg-Welander syndrome 

Weaver syndrome

Wolcott-Rallison syndrome

Walker-Warburg syndrome

WAGR syndrome 

Von Hippel-Lindau disease

Von Gierke disease

Cyclic vomiting syndrome

Vitamin B12 congenital deficiency

VLCAD

Velocardiofacial syndrome

VATER or VACTERL association or syndrome 

Van der Woude syndrome

Weill-Marchesani syndrome

Headline

Naxos, disease

Shone syndrome

Ectopia cordis

Dysplasia: maxillo-nasal

Binder, syndrome

Arginase-1 deficiency

SCIWORA

CIP (Congenital Indifference to Pain)

Congenital indifference to pain

Marshall, syndrome

Wiskott-Aldrich syndrome

Dwarfs

Killian, polyp of

Cherubism

Zellweger syndrome

Cat eye syndrome

Fragile X syndrome

Xeroderma pigmentosum

X0, syndrome

Worster-Drought syndrome

Wolfram syndrome

Wolff-Parkinson-White syndrome

Wolf-Hirschhorn syndrome

nanism

Schimmelpenning-Feuerstein-Mims syndrome

Nasopharyngeal fibroma

Scalp - ears - nipples, syndrome

Fynlay-Marks, syndrome

SEN syndrome

SCALP syndrome

Molybdenum cofactor, deficiency in

MoCD

MOCOD

Deficiency in sulfite oxidase

Xanthinuries héréditaires

PPAC

Linear sebaceous nevus, syndrome

Glycogenosis type XII

Jadassohn, nevus of

Tapia syndrome

Vici-Sabette-Gambarara syndrome

Vici syndrome

JME

Janz, syndrome

Juvenile myoclonic epilepsy

ADNFLE

Epilepsy infantile multifocal severe

Epilepsy: frontal nocturnal familial autosomal dominant

Solomon syndrome

ADA deficiency

Vaping-associated pneumopathy

Cervical cleft, medial, congenital

Laryngeal cleft

Congenital airway malformation

Alveolo-capillary dysplasia, congenital

Restrictive dermopathy

Anoxic reflex convulsions

Paraspinal arteriovenous fistula

Congenital methemoglobinias

DICS: alymphocytic type

Transdural medullary hernia

Deficiency in adenosine deaminase

Berry, syndrome

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

DICS

Ankyloblepharon filiforme adnatum

Undifferentiated embryonal sarcoma of the liver

Hepatic focal nodular hyperplasia

Hepatocarcinoma

Hepatoblastoma

Liver hemangioendothelioma

Liver hamartoma

von Meyenburg complex disease

Hepatic adenoma

Gastro Intestinal Stromal Tumors

GIST

Short anagen hair syndrome

Blepharophimosis - ptosis - inverted epicanthus, syndrome

Chronic granulomatosis

ILFS3

ILFS2

ILFS1

CALFAN syndrome

Autosomal recessive cerebellar ataxia type 21

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

Tetrahydrobiopterin, deficiency in

Antrochoanal polyp

Pseudohypertriglyceridemia

Tyrosinemia

Frydman-Cohen-Karmon syndrome

Aciduria: alpha-methylaceto-acetic

Congenital hypoplasia of the adrenals

Salla disease

CARASIL

Binswanger, syndrome

BOFS

Branchio-oculo-facial, syndrome

Eisenmenger, syndrome

Deficiency in phosphoglucomutase 1

Deficiency in T2

Deficiency in  mitochondrial acetyl-CoA thiolase

Plastic bronchitis

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

Epiglottis: aplasia, hypoplasia

Deficiency in beta-cetothiolase

Christianson, syndrome

DNAJC12 deficiency

Linear IgA bullous dermatosis

Bart-Pumphrey syndrome

Congenital visceral myopathy

Mungan syndrome

Hepatic tumors

Bridges and Good syndrome

Septic chronic granulomatosis

ISSD

X-linked intellectual deficit: South Africa type

Okihiro, syndrome

Baraitser-Reardon, syndrome

Owren, maladie d'

Factor V of Leiden

Factor V, constitutional deficiency in

Respiratory chain, pathologies of the

Mitochondrial cytopathies

Kleefstra, syndrome

Microdeletion  9q34.3

Malignant hyperthermia

Stilling Turk Duane syndrome

Glycerol-kinase, deficiency in

Polysplenia

Microdeletion Xp21, syndrome

Marin-Amat, syndrome

Gunn, syndrome 

Reverse Marcus Gunn, phenomenon

Marcus Gunn, syndrome

Jaw-Winking, syndrome

Gluten intolerance

Heterotaxy syndrome

Duane Radial Ray syndrome

DRS (Duane Retraction Syndrome)

Duane, syndrome

Duane retraction syndrome

Doose, syndrome

Pigmentary urticaria

TORCH complex or syndrome

Pseudo-TORCH, syndrome

Visceral leiomyopathy: non-familial

Visceral leiomyopathy: known as 'Bantous or African leiomyopathy'

Pemphigus: familial benign

Hailey-Hailey, syndrome

Encephalocele

Rokitansky syndrome

MURCS, association

Parahemophilia

Epilepsy with myoclono-astatic crises

Tracheal bronchus

FIRES

Fontaine-Farriaux, syndrome

Petty-Laxova-Wiedemann, syndrome

Petty, syndrome

WARBM1

Warburg Micro syndrome

Refsum disease

Refsum disease, infantile

Micro, syndrome

Esophageal bronchus

Mayer-Rokitansky-Küster-Hauser, syndrome

Pseudomyotonia

Histiocytic reticulosis

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

Celiac, disease

Popliteal pterygium syndrome

Riley-Day syndome

Pseudocholinesterase, deficiency in

Prune belly, syndrome

Proteus syndrome

Lipoid proteinosis

Protein S, deficiency

Protein C, deficiency

Mitral valve prolapsus

Progeria

Progressive Familial IntraHepatic Cholestasis

Prader-Willi, syndrome

Precocious puberty independent of gonadotropins in the girl

Blue sclera disease

Ivemark type II, syndrome

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

Rett syndrome

Seckel syndrome

Reye 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

Bronchia suis (pig bronchus)

Senior-Loken syndrome

Sickle cell disease

Baraitser-Bett-Piesovicz, syndrome

Fabry hereditary sphingolipidosis

Spherophakia-brachymorphism syndrome

Sotos syndrome

Smith-Lemli-Opitz syndrome

Sly syndrome

Sjögren-Larsson syndrome

Maple syrup disease, maple syrup urine disease

Sipple syndrome

Simpson-Golabi-Behmel syndrome

Startle disease

Whistler syndrome

Steinert disease or dystrophy

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

Silver-Russell syndrome

Thomsen disease

Laron-like syndrome

Turner syndrome

Turcot syndrome

Trisomy 21

Trisomy 18

Trisomy 13

Trismus-pseudocamptodactyly syndrome

Treacher-Collins syndrome

Townes-Broks syndrome

Febrile infant torticollis

Sphingomyelinase, deficiency in

Tetraphocomelia-thrombocytopenia

TIBOLA syndrome

Lipoid thesaurismosis

Teschler-Nicola-Killian syndrome

Hereditary hemorrhagic telangiectasis

Tay-Sachs disease

Taybi syndrome

TAR syndrome 

Tangier disease

Catecholaminergic polymorphic ventricular tachycardia

Sturge-Weber-Christian disease 

Stiff-baby syndrome

Toni-Debre-Fanconi syndrome

DDON syndrome (Deafness-Atonia-Optic Neuropathy)

Schinzel syndrome: acro-callosal type

Cubito-mammary, syndrome

Dystrophinopathies

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

Dysostosis cleidocranial

Dekaban-Amira, syndrome

Darier-White, disease

Thalassemias

Takatsuki syndrome

Shimpo syndrome or disease

PEP, syndrome

POEMS syndrome

Crow-Fukase syndrome

Cree, encephalitis

Coproporphyria: hereditary

Cooley, disease

Chronic Infantile Neurologic, Cutaneous Articular Syndrome

Deletion 4p

Arthritis: juvenile idiopathic

Urbach-Wiethe disease

Hypotonia-cystinuria, syndrome

Deletion 2p21

DEBONEL, syndrome

Cystinuria

Craniosynostosis-radial aplasia, syndrome

Baller-Gerold, syndrome

Still disease

Focal dermal hypoplasia

Goltz, syndrome

Schinzel syndrome

Chauffard, disease

Stickler syndrome

Juvenile polyarthritis

Pulmonary interstitial glycogenosis

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

Dysplasia: cleidocranial

Chauffard-Still, disease

Spastic infantile diplegia

Middle-East syndrome

Hamburger, disease

Haltia-Santavuori, disease

Dysplasia: atrio-digital type 1

Heart-hand type 1, syndrome

Cardiomeliic type 1, syndrome

Niikawa-Kuroki, syndrome

Situs inversus

Laurence-Moon, syndrome

Diffuse idiopathic osteolysis

Letterer-Siwe, disease

Phantom bone disease

Hypomagnesemia

Little, syndrome or disease

Goltz-Gorlin, syndrome

PPNAD

Kenny-Caffey-Linarelli, syndrome

KCS2

KCS1

Kenny-Caffey, syndrome

Carney, complex of

SSS

BASCULE syndrome

Angiomatosis: diffuse kystic of the bones

Iridogoniodysgenesis with somatic anomalies

Diastematomyelia

A frigore facial nerve paralysis

Bell's paralysis

Facial nerve paralysis

Mondor, disease

Kallmann, syndrome

Granulomatosis: Wegener

Bendon, syndrome

Wegener granulomatosis

Megacystis-microcolon-hypoperistalsis, syndrome

Happle, syndrome

Iridogoniodysgenesis - hypodontia

HRD syndrome

Hypomagnesemia: renal type 2

HOMG2

Axenfeld-Rieger, syndrome

Axenfeld, syndrome

Rieger syndrome

Rieger anomaly

Hypomagnesemia: primary familial with normocalciuria and normocalcemia

Hypomagnesemia, intestinal, with secondary hypocalcemia

Hypomagnesemia-hypomagnesemia, primary, autosomal dominant, with hypocalciuria

Hypomagnesemias: hereditary

Laryngeal diastema

Non-neurogenic neurobladder

Richardson-Kirk syndrome

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

Deficiency in 5-oxoprolinase

Devic, syndrome

CHILD, 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

Lennox, syndrome 

Sandifer 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

Gorlin, syndrome

Rossolimo-Curschmann-Batten-Steinert syndrome

NISCH syndrome

5-oxoprolinuria

Sandifer-Sutcliffe syndrome

Sirenomelia

PAM

Rippling muscle disease

Potassium-Aggravated Myotonia

Mucoviscidosis

Deafness: congenital

Gloomy face syndrome

Hypercholesterolemia: familial

Toriello-Carey syndrome

Kapur-Toriello, syndrome

CK syndrome

Curschmann-Batten, syndrome

Von Voss-Cherstvoy syndrome

Diplomyelia

Albright, syndrome

Muenke, syndrome

Morquio-Brailsford, syndrome

Meromelia

Hemomelia

Ectromelia

DK phocomelia, syndrome

Chilaiditi, syndrome

Amelia

Calcinosis, striopallidodentate bilateral

Myoglobinuria: recurrent from genetic origin

Pseudohypoparathyroidism

Phocomelia

Takao syndrome

Maltase (acid): deficiency in

PROMM

Familial X-linked exsudative vitreoretinopathy

Norrie-Warburg, disease

Episkopi blindness

Norrie, disease

GUCH

Carney, diad of

Acrodysostosis: pre-axial

Familial or sporadic resistance to glucocorticoids

Foreword

Hypoparathyroidism - neurosensory deafness - renal dysplasia, syndrome

EVALI

SCM

Myotonias, congenital

Pulmonary capillaritis, pauci-immune

SAVI

STING-associated vasculopathy with onset in infancy

COPA syndrome

4A syndrome

Fahr, syndrome or disease

Wildervanck syndrome

Senter syndrome

Saldino-Mainzer syndrome

Conoreal, syndrome

Chrousos, syndrome

Tarui disease

Deficiency in phosphorylase b-kinase

Deficiency in phosphoglycerate mutase 2

Deficiency in phosphoglycerate kinase

FIBGC

Albright hereditary osteodystrophy

Pseudopseudohypoparathyroidism

3A syndrome

Arteriopathy: idiopathic obliterans infantile

Afzelius, syndrome

Siewert-Kartagener syndrome

Siewert syndrome

Hemoglobin anti-Lepore

Hemoglobin Lepore

Hemoglobin Bart

Hemoglobin E

Drepanocytemia

Adult progeria

HIES

Carney, triad

Arteriopathy: occlusive obliterans infantile

Arhinia: congenital

Arteriopathy: widespread obliterans infantile

AR-HIES

AD-HIES

Werner syndrome

Rapunzel, syndrome

Post-poliomyelitis, syndrome

GACI, syndrome

Dysraphisms: spinal

Dysplasia: caudal

Hemophilia B Leyden

Facio-cutaneo-skeletal, syndrome

CANS

Myelodysplasias

Rud syndrome

LI

HID, syndrome

Arlequin fetus

Desmons-Britton, syndrome

Desmons, syndrome

Neu-Laxova syndrome

KID syndrome

Lamellar ichthyosis

Hemoglobin Hammersmith

Collodion baby

Hemoglobin Köln

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

Carnitine palmitoyl-transferase, deficiency in

Congenital ichthyosis

Deficiency in Coenzyme Q

Glutaryl-CoaA dehydrogenase, deficiency in

Cleidocranial dysplasia with micrognathia, absence of thumbs and distal phalanges

Yunis-Varon syndrome

Thoraco-laryngo-pelvic dysplasia

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

Jackson-Weiss, syndrome

Coenzyme Q, deficiency in

Retrotracheal left pulmonary artery

Ductus arteriosus aneurysm

Deficiency in cystathionine-beta-synthase

Cystathionine-beta-synthase, deficiency in

Solomon-Fretsin syndrome

Juvenile intestinal polyposis

Intestinal polyposis: juvenile

Cleidocranial dysplasia

Microdeletion 6p

Lithopedion

Koolen-de Vries syndrome

GLUT-1 deficiency

ATP synthase, deficiency in

Pheochromocytoma: infant

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

Bridging bronchus

Beta-cetothiolase, deficiency in

Iris sphincter agenesis

Aspartoacylase, deficiency in

Aminoacylase 2, deficiency in

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

Biotinidase, deficiency in

Hemoglobin M-Milwaukee-2

Pericardial effusion

Oculo-cutaneous albinism

Dystonia: myoclonic familial DYT11

Myoclonic familial dystonia DYT11

Meige, syndrome

Meige's dystonia

Idiopathic familial dystonias

Dystonias: idiopathic familial

LCA

Scurvy

Alimentary allergy to alpha-gal

Hemoglobin M-Akita

Constrictive pericarditis

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

Dieulafoy ulcer

Short stature with immunodeficiency

Vitamin C deficiency

MEDNIK syndrome

Glutathion-synthetase, deficiency in

Paraneoplastic encephalitis

EIEE

Sexual ambiguity

Sex development disorders

5-alpha reductase deficiency

Hemoglobin FM-Viseu

Hemoglobin F-Sarajevo

Hemoglobin Constant Spring

Hemoglobin Chico

Juvenile hyaline fibromatosis

Kamouraska syndrome

Hyalinosis: systemic, infantile

Malan syndrome

Dexamethasone-sensitive hypertension

Hyperaldosteronism, primary familial

CEDNIK syndrome

Papillomatosis, laryngeal

Laryngeal papillomatosis

Al-Gazali syndrome

Hemoglobin F-Toms River

Hemoglobin Bristol

Hemoglobin Alesha

Alpha-gal syndrome

Small bowel atresia and stenoses

PAID syndrome

Glucose-6-phosphate translocase, deficiency in

Unilateral hemithorax lucency

Swyer-James-McLeod syndrome

Swyer-James syndrome

Melanocytic nevus: congenital

Giant nevus: congenital

Griscelli-Prunieras, syndrome

Elejalde, syndrome

Macular juvenile degeneration

Silver hair syndrome

AVED

Stargardt disease or syndrome

Ataxia: Friedreich type - like

Griscelli, disease

Albinism: partial with immunitair deficit

Reverse Shapiro syndrome

CUD

Deficiency in carnitine

Deficiency in biotinidase

Budd-Chiari, syndrome

Aciduria: isovaleric

Isovaleric acidemia or aciduria

Mongoloid spot

Chediak-Higashi-like, syndrome

Exostoses: congenital multiple 

Post-anginous septic syndrome

Factor XIII, constitutional deficiency in

Factor XII, constitutional deficiency in

Rotor syndrome

Legg-Calvé-Perthes, disease

Early onset sarcoidosis

EOS

Bohn, nodules

Osteochondromas: multiple

Exostoses producing disease

McLeod, syndrome (1)

Bessel-Hagen, deformity

SPG20

Progressive sclerosing poliodystrophy

Lightwood, syndrome

Hypercalcemia: infantile familial

Hypercalcemia: hypocalciuric benign familial

Hypercalcemia, benign familial

Fellman, disease

GRACILE syndrome

Alpers-Huttenlocher, syndrome

Wilkie syndrome

Superior mesenteric artery syndrome

Chondrodysplasia: deforming

Fraccaro-Schmid, syndrome

Donohue, syndrome

Leprechaunism

HAIR-AN, syndrome

De Vivo, syndrome

Deficiency in GLUT-1

Amyloïdosis: portuguese

Amyloidosis: hereditary

Familial amyloid polyneuropathy

Myofibromatosis: infantile

Lhermitte-Duclos, disease

Hemoglobin Hazebrouk

Biickerstaff post-infectious rhomboencephalitis

Mendenhall, 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

Hemoglobin Milwaukee

Fibromatoses (infant)

Malacoplakia

Multiple sclerosis of the child

Generalized resistance to thyroid hormones

Spastic paraplegia: autosomic recessive type 20

Myxedema: congenital

Lyell, syndrome

Kleeblattschaedel syndrome

Rubeoleous embryopathy

Fiessinger-Rendu pluriorificial erosive ectodermia

Troyer syndrome

Congenital rubeola syndrome

Encephalopathy by deficiency in GLUT-1

Epidermic toxic necrolysis

Cacchi-Ricci, disease

Hypothyroidism: congenital or acquired

Gorlin-Chaudry-Moss, syndrome

Cretinism

Cloverleaf skull, syndrome

Acute steatosis of pregnancy 

Ataxia, spastic, Charlevoix-Saguenay type

ARSACS

Moschcowitz, disease

Rabson-Mendenhall, syndrome

Medullary sponge kidney

Stevens-Johnson syndrome

Refetoff, syndrome de

Down, syndrome 

Spongy degeneration of the central nervous system

Dysostosis: acrofacial

François dyscephalia

Bird-like dyscephaly

Dysautonomia: familial

Dutch-Kentucky, syndrome

Duchenne, muscular dystrophy

Dubowitz, syndrome

Dubin-Johnson, syndrome

Drepanocytosis

Dysostosis: craniofacial

Drash, syndrome

Dysostosis: mandibulo-facial

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

Deletion 13q

Short PR-normal QRS syndrome

Dravet, syndrome

Hematocolpos

Carey-Fineman-Ziter syndrome

Williams-Beuren syndrome

Anti-GBM antibody disease

Goodpasture syndrome

Hereditary cerebral cavernous hemangioma

Hereditary cerebral cavernoma

Cerebral cavernoma

Cavernoma: cerebral familial

Saldino-Noonan syndrome

Majewski syndrome (1)

Dysostosis: acrofacial post-axial

OHVIRA syndrome

Hepato-lenticular degeneration

Hydrometrocolpos

Didelphys uterus-blind hemivagina-renal agenesis

Urachus diverticulum

Urachus sinus

Metrocolpos

Omphalomesenteric duct remnant

Dysplasia: oculo-auriculo-vertebral

Dysplasia: ectodermal - or ectodermic - anhidrotic

Dysplasia chondroectodermic

Dysplasia: arterio-hepatic

Short ribs - polydactyly syndrome

Lipofuschinosis: ceroid neuronal

Dejerine-Sottas. syndrome

Christ-Touraine-Siemens, syndrome

Chondrodysplasia: punctata

Chotzen, syndrome

Cholinesterase: atypical

Intrahepatic cholestasis: progessive familial 

Jaundice: familial

Cherubism

Chediak-Higashi, disease or syndrome

CHARGE, syndrome or association 

CINCA syndrome

Lipofuschinosis: ceroid neuronal late infantile

Cobalamine, congenital deficit

Cerebro-hepato-renal, syndrome

Central Core Disease

CDG syndrome

Cayler, cardiofacial syndrome 

Cat eye syndrome

CATCH-22, syndrome 

Castleman, disease

Carpenter, syndrome

Caroli, disease

Carnitine palmitoyl-transférase, deficit in

Charcot-Marie-Tooth, disease

Criggler-Najjar, syndrome

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

Currarino, syndrome or triad of                

Chylomicron retention disease

Crouzon, disease ou syndrome

Warts-hypogammaglobulinemia-infections-myeokathexis

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

Cryptophthalmos syndrome

Opsoclonic encephalopathy

CFZ syndrome

Fibrodysplasia ossific progressive

Feingold, syndrome

Farber, disease

Fanconi, syndrome or disease

Fanconi, anemia or pancytopenia

Falciform anemia

Fabry, disease

Whistling face syndrome

Escobar syndrome

Pancreatic kystic fibrosis

Epilepsy: myoclonic with ragged-red-fibers

Periodic familial fevers

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

Erythrodermia: ichtyosiform with leucocytes vacuolization

Fukuyama, disease

Gitelman, syndrome

Gilbert, disease or syndrome

Cerebral gigantism

Genée-Wiedemann, syndrome

Gaucher, disease

Gargoylism

Gardner, syndrome

Gangliosidoses GM2

Gamstorp-Wohlfart, syndrome

Galloway-Mowat, syndrome

Hyaline juvenile fibromatosis

G, syndrome

Dystrophy: thoracic familial asphyxiating

Fucosidosis

Fryns, syndrome

Friedreich, disease

Freeman-Sheldon, syndrome

Frasier, syndrome

Fraser, syndrome

Franceschetti-Klein, syndrome

Franceschetti, syndrome

Forbes, disease

Fifth digit syndrome

Galactosialidosis

CHIME syndrome

Hemoglobin Santa Ana

Acatasia

Acatalasemia

Lingual thyroid

Zunich-Keye syndrome

CNPAS

Congenital nasal pyriform aperture stenosis

Piriform aperture stenosis

Ogden syndrome

Pyriformis sinus fistula

Eagle-Barrett, syndrome

Glycosylation, congenital anomaly due to deficiency in PIGL

Widal syndrome or triad

Nishimura-Schmidt endochondral gigantism

Moreno-Nishimura-Schmidt syndrome

Hyperphosphatasia with mental retardation type 1

Mabry syndrome

Lin-Gettig syndrome

HPMRS

Hyperphosphatasia with Mental Retardation Syndrome

Bangham syndrome

CHAND syndrome

Canavan, disease

Piriform recess fistula

CMMR-D syndrome

WHIM syndrome

Dystrophies: myotonic

Dystrophy: muscular with micropolygyria

Dystrophies: muscular congenital

Dystrophy: osteochondromuscular

Dysplasia: right ventricular arhythmogenic

Dysplasia: septo-optic

Dysplasia: osseous familial

Dysplasia: olfacto-genital - Kallmann- De Morsier

Piebaldism

Peroxisomal diseases

Oberklaid-Danks syndrome

Desmoid tumor

BOS syndrome

Bohring-Opitz syndrome

Bohring syndrome

Alezzandrini syndrome

OMA syndrome

Dressler syndrome

Spondylo-epiphyseal dysplasia (late)

Migraine, familial hemiplegic

Takahara syndrome

Aggressive fibromatosis

Eagle, syndrome

Opitz-trigonocephaly-like syndrome

Nephrotic syndrome, idiopathic

Perthes, syndrome

Kimura, disease

Fetus in fetu

ROHHAD

Dobrow, syndrome

Congenital central alveolar hypoventilation

Turner-Kieser syndrome

Pierson, syndrome

Osteo-onychodysplasia: hereditary

Nephrotic syndrome, congenital

Glycogenosis type I

Finnish type nephrotic syndrome

Glycogénose type 0

Hood, syndrome

Fong, disease

Nail-patella, syndrome

Afibrinogenemia: congenital

Autism

Peroneal atrophy

Ataxia-telangiectasia

Ataxia: spinocerebellar

Asherson, syndrome

Arthrogryposis

Nephrosis

Seip-Laurence syndrome

Cantrell, pentalogy 

TPT-PS syndrome

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

Schisis association

Lipodystrophy-acromegaloid gigantism, syndrome

Arhinencephaly

Seip syndrome

Diabetes: lipoatrophic

Berardinelli-Seip-Laurence, syndrome

Berardinelli-Seip, syndrome

Fetal akinesia sequence

COFS, syndrome

Cerebro-oculo-facio-skeletal, syndrome

Pena-Shokeir type 2, syndrome

Pena-Shokeir type 1, syndrome

Willebrand (von) disease

Gollop-Wolfgang, syndrome

Acrocephalopolysyndactyly type V

Alcoholic, embryofetopathy

Alcalosis: hypokaliemic - hypercalciuria

Albinism: oculo-cutaneous

Albers-Schönberg, disease

Alagille, syndrome

Aicardi, syndrome

Aglossia-adactyly

Adrenoleukodystrophy

Adrenogenital, syndrome

Adiposogenital-pigmental retinitis, syndrome

Arnold-Chiari, malformation

Adams-Oliver, syndrome

Allgrove, syndrome

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

Adenocutaneous, syndrome

Anderson, syndrome

Asphyxia: traumatic

ARC, syndrome 

Aplasia: cutis congenita

Apert, syndrome

Antley-Bixler, syndrome

Aniridia - Wilms tumor, syndrome

Angiomatosis: hemorrhagic familial

Angiomatosis: encephalotrigeminal

Angiokeratoma corporis diffusum

Angioneurotic edema (familial)

Alexander, disease (1)

Anemia: falciform

alpha1-antitrypsine, deficiency in

Andersen-Tawil, syndrome

Andersen, disease

Analphalipoproteinemia

Analbuminemia: congenital

Amyotrophias: spinal

Amyoplasia: congenital

Amylo-pectinosis

Alström, syndrome

Alport, syndrome

Alpers, syndrome

Aria, syndrome

Angelman, syndrome

Caroli, syndrome

Joubert type A, syndrome

Bamforth, syndrome

Bannayan-Riley-Ruvalcaba, syndrome

Scimitar syndrome

Chondrodysplasia: calcific congenital

Chiari malformation

Steely hair disease: Menkes syndrome

Chemke-Oliver Mallek, syndrome

Chemke, syndrome

Charcot disease

Bardet-Biedl, syndrome

Ceramidase, deficiency in

Bartter (or Schwartz-Bartter), syndrome

CAPS (1)

Porencephalies: autosomal dominant

HANAC syndrome 

Erdheim-Chester, disease

Burn-Baraitser, syndrome

Burke, syndrome

Branchio-Oto-Renal, syndrome

Brachmann-de Lange, syndrome

Blau, syndrome

Biemond, syndrome

Cerebro-oculo-renal, syndrome

Bland-White-Garland, syndrome

Glycogenoses

Byler, disease or syndrome

Buckley, syndrome

Brunner-Winter, syndrome

Brugada, syndrome

Brevicollis congenital

Breschet-Gorham-Stout, syndrome

Branchio-otic, syndrome

Bowen, syndrome

BOR, syndrome

Barber-Say, syndrome

Bloch-Sulzberger, syndrome

Bernard Soulier, disease

Blackfan-Diamond, disease

Behçet, disease

Beckwith-Wiedemann, syndrome

Becker, disease

Becker-Kiener, syndrome

Becker, muscular dystrophy

Beare-Stevenson, syndrome

Bean, syndrome

BBB, syndrome

Batten, disease

Blue Rubber Bleb Naevus, syndrome

Aarskog, syndrome

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

Bickel-Fanconi, disease

Aarskog-Scott, syndrome

Acroosteolysis

Morgagni, hernia

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

Dysplasia: faciogenital

Netherton, syndrome

Canavan-Van Bogaert-Bertrand, syndrome

IgA nephropathy

Berger, disease

Michelin baby, disease

Cutis gyrata, syndrome 

Bazex-Dupré-Christol, syndrome

Baraitser-Burn, syndrome

Bannayan-Zonana, syndrome

Hypsarythmia

West syndrome

Acrocephalopolysyndactylies

ALCAPA

Acrocephalosyndactylies

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

Aicardi-Goutières, syndrome

Dystrophy: thrombocytic hemorrhagic

Bourneville, tuberous sclerosis or syndrome

Dysplasia: cerebro-facio-thoracic

Panthotenate kinase-associated neurodegeneration

Nephrolithiasis: X-linked

Dent, syndrome or disease

Rieger anomaly-partial lipodystrophy

Aarskog-Ose-Pande, syndrome

SHORT syndrome

Dermatosparaxia

Schaltenbrand syndrome

Spontaneous or idiopathic intracranial hypotension

Deficiency in glutaryl-CoA dehydrogenase

Hydrocephalus-Agyria-Retinal Dysplasia

SAMS 1-31

Hemimelia

Pascual-Castroviejo type 2, syndrome

Pascual-Castroviejo type 1, syndrome

Thrombophilia: hereditary due to a congenital deficiency in antithrombin 3

Kaufman type, oculocerebrofacial syndrome

Harlequin baby

Antithrombin 3 deficiency

Kelley-Seegmiller, syndrome

Deficiency in hypoxanthine-guanine-phosphoribosyltransferase grade IV

Deficiency (complete) in hypoxanthine-guanine-phosphoribosyltransferase

Clefts: facial

Aciduria: glutaric type I

Hippel-Lindau, disease

Multiple pterygium syndrome

Hypotonia-cystinuria, syndrome 

Benign periodic hypothermia

Hypoproconvertinemia

Hypoglossia-hypodactyly syndrome

Hyperargininemia

Muscular hyperactivity, syndrome

Cutaneous hyalinosis

HSAN

Hormone Organification Defect Iib

Low molecular weight proteinuria and nephrocalcinosis

Holzgreve, syndrome

Dursun, syndrome

HIDS (Hyperimmunoglobulinemia D syndrome)

Diaphragmatic hernia - omphalocele - corpus callosum agenesis, syndrome

Hermansky-Pudiak, syndrome

Hennekam-Beemer, syndrome

Hemophilia C

Hemoglobin S

Hemoglobin M

Hemoglobin H

Hemoglobin F

Hemoglobin C

Holzgreve-Wagner-Rehder

Dystrophic myotonia

CLOVE(S) syndrome

Nanism with onychodysplasia

Microcephalic primordial dwarfism

Nanocephalic dwarfism

Bird-headed dwarfism

NAGS, deficiency in

Nager, syndrome

Osteohypertrophic varicose nevus

Epidermic nevus, syndrome

Murray-Puretic-Drescher, syndrome de

Tessier's facial clefts

Non-dystrophic myotonias

Deficiency in aspartoacylase

Chondrodysplasic or chondrodystrophic myotonia

Congenital myotonias

Ossifying myositis: progressive

Duchenne of Boulogne myopathy

Rod myopathy

Central axis myopathy

Myokimia: continuous

Myodysplasia or myodystrophy: consitutional

Myasthenias

Glanzmann, thrombasthenia

Steinert myotony

Dysplasia: spondylo-epiphyseal (late)

Sensitive and autonomic hereditary neuropathies

Westphall disease

Periodic paralysis type 3

Potassium sensitive periodic paralysis - cardiac dysrythmia

Ochronosis: hereditary

Gamstorp, disease

Adynamia: transient hereditary or Gamstorp's adynamia

RAPADILINO, syndrome

Alcaptonuria

Cancrum oris

Konzo, disease

Noma

Deficiency in aminoacylase 2

Tracheobronchomegaly

Factor XI, constitutional deficiency in

Dysplasia: anauxetic

Chondrodysplasia: metaphyseal (McKusick)

Chondrodysplasia: metaphyseal autosomic recessive

Cartilage-hair hypoplasia

Mounier-Kuhn, syndrome

Cartilage-hair hypoplasia 

Dysplasias: spondylo-metaphyseal

Erythromelalgia

Wolman disease

Rothmund-Thomson syndrome

Glass bone disease

Jussieu, syndrome

Pallister-Killian, syndrome

Pallister-Hall, syndrome

Pagon, syndrome

PAF

Virchow oxycephaly

Oxycephaly-acrocephaly

Oxalosis

Oto-palato-digital, syndrome

Malignant osteopetrosis

Periodic familial paralysis

Osler-Rendu-Weber, disease

Thyrotoxic hypokaliemic periodic paralysis

Marble bone disease

Ornithine-carbamyl transferase, deficiency in

Opsoclonia-myoclonias, syndrome

Opitz-Frias, syndrome

Opitz, syndrome

Onychodysplasia, dwarfism

Ondine-Hirschsprung, syndrome

Ondine, syndrome or course

Ollier, disease

Phenylpyruvic oligophrenia

Osteogenesis imperfecta

PFIC

Barakat syndrome

Porphyrias

Porak et Durante, disease

Pompe, disease

Acute inflammatory polyradiculonevritis

Adenomatous polyposis: familial

Progressive infantile poliodystrophy

Poland syndrome

Grey platelets syndrome

Pierre-Robin sequence

Cardiodysrythmic periodic paralysis

PHACE(S), syndrome 

Oculodigitoesophagoduodenal syndrome

Pfeiffer, syndrome

PFAPA, syndrome

Perlman, syndrome

Pepper, syndrome

Pendred, syndrome

Pelizaeus-Merzbacher syndrome

Pearson, syndrome

Patau, syndrome

Parry Romberg, syndrome

Parkes-Weber, syndrome

Phenylketonuria

HOS (acronym for Occiptal Horn Syndrome)

Bronchomalacia: congenital

Williams-Campbell syndrome

Papillon-Lefevre, syndrome

Haim-Munck, syndrome

Encephalitis with anti-NMDA receptor antibodies

Dyke-Davidoff-Masson, syndrome

Zaspopathy

Trichopoliodystrophy

Myotilinopathy

MNK

Ohtahara, syndrome

MD

Ichthyosis-prematurity, 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

MK

Neurofibromatosis type I

Muckle-Wells syndrome

Oculocerebrorenal syndrome

Oculo-cerebro-cutaneous, syndrome

Norio syndrome

Noonan, syndrome

NOMID

Noack, syndrome

Niemann-Pick, disease or syndrome

Neutropenias, congenital severe

Giant axonal neuropathy

Palmoplantar keratodermia - periodontopathy

Neurofibromatosis type II

Hammam, syndrome

Nephronophthisis

Endocrine neoplasias, multiple, syndrome

Nemaline myopathy or nemaline rod myopathy

NARP, syndrome 

Progeroid dwarfism

Osteodysplasic primordial dwarfism

Huntington, disease

Bannwarth, syndrome

Congenital ichthyosis type 4

Martsoft, syndrome

Oculomandibulodyscephaly with hypotrichosis

Neuromyotonia

Jacobsen, syndrome

Lignac-Fanconi,  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

Kawasaki, disease

Jadassohn, nevus

Kearns-Sayre, syndrome

Isochromosome 12p with mosaicism, 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

Jaeken, syndrome 

Kugelberg-Welander, disease

Muscle-eye-brain disease

Leucinosis

Lesch-Nyhan, syndrome

LEOPARD, syndrome 

Lemierre, syndrome

Leigh with maternal inheritance, syndrome

Leigh, disease or syndrome

Leichtman-Wood-Rohn, syndrome

Laurence-Moon-Bardet-Biedl, syndrome

Landry-Guillain-Barré, syndrome

Kasabach-Merritt, syndrome

Krabbe, disease

Congenital adrenal hyperplasia

Kostmann, syndrome or disease

Kok, disease

Klippel-Trénaunay-Weber, syndrome

Klippel-Feil, syndrome

Klinefelter, syndrome

Klein-Waardenburg, syndrome

Kinsbourne, syndrome

Kinky hair syndrome

Kikuchi-Fujimoto, disease

Kelley-Seegmiller, syndrome

Larsen, syndrome

Guillain-Barré, syndrome

Kaposiform hemangio-endothelioma

Hecht-Beals, syndrome

Hecht, syndrome

Hashimoto-Pritzker, syndrome

HARD syndrome

Happy puppet syndrome

Hanhart, syndrome

Hand-Schüller-Christian, disease

Hamartoblastoma (hypothalamique) - polydactyly, syndrome

Hallervorden-Spatz, syndrome or disease

Hypertension hyperkaliémique familiale

Haddad, syndrome

Hemolytic and uremic, syndrome

Grisel, syndrome

Eosinophilic granuloma

Langerhans cells granulomatosis

Gorlin-Goltz, syndrome

Gorham-Stout, syndrome

Gorham, syndrome or disease

Gordon, syndrome (1)

Goodman, syndrome

Goldenhar, syndrome

Potter, syndrome

Hallermann-Streiff-Francois, syndrome

Holt-Oram, syndrome

Lipofuscinoses 

Hyperoxaluria primitive type I

Hyperglobulinemia E

Hyperexplexia

Hyperbilirubinemia Type 1

Systemic infantile hyalinosis

Hutchinson-Gilford, disease or syndrome

Hurler-Scheie, disease or syndrome

Hurler, disease or syndrome

Hunter, disease or syndrome 

Hemangioma-thrombopenia, syndrome

Stone man, disease

Neonatal hemochromatosis

Holoprosencephaly

Histiocytosis  X

Langerhans cell histiocytosis

Hirschsprung, disease

Hers, disease

Hepato-cerebro-renal, syndrome

Henoch-Schönlein, disease or purpura

Hennekam, syndrome

Hemophilia

Lymphohistiocytic hemophagocytosis

Lymphoid angiofollicular hyperplasia

Homocystinuria

Paroxysmal nocturnal hemoglobinuria

Leucodystrophies

McArdle, disease

Mastocytosis

Marshall-Smith, syndrome

Maroteaux-Lamy, disease

Marfan, syndrome or disease

Mannosidosis

Maffucci, syndrome

Histiocytic necrotizing lymphadenitis

Systemic lupus erythematosus: infantile

McCune-Albright syndrome

Marchiafava-Micheli, disease

McKusick-Kaufman, syndrome

Fitz-Hugh-Curtis, syndrome

PRES

Hyperglyceraturia

Hyperoxaluria primitive type III

Hyperoxaluria primitive type II

Hyperglycolaturia

Deficiency in monocarboxylate carrier 8

Deficiency in MCT8

Intellectual deficiency (X-linked) - hypotonia

Allan-Herndon-Dudley, syndrome

Pycnodysostosis

Miller-Dieker, syndrome

Mucopolysaccharidoses

Mucolipidoses

Moya-Moya, disease or syndrome

Morquio, disease

Morphea

Molluscum fibrosum

Moebius, syndrome

MODY, syndrome 

MODED, syndrome 

MNGIE, syndrome 

MCAD

Miller-Fisher, syndrome

Botulism

Miller, syndrome

Hemifacial microsomia

Microgyria-pachygyria, syndrome

Methemoglobinemias: congenital

MERRF syndrome 

Menkes, syndrome

MEN, syndrome 

Melnick-Fraser, syndrome

MELAS, syndrome 

Megacolon: congenital

MILS

Neuroborreliosis

Universal pterygium

Multiple pterygium syndrome

Adrenals congenital lipoid hyperplasia

Hay-Wells, syndrome

AEC, syndrome

Familial reticuloendotheliosis with eosiniphilia

Omenn, syndrome

Hyperkinetic, syndrome

Hyperactivity and attention deficit, syndrome

ADHD

Lambert-Eaton, syndrome

Peters plus, syndrome

Lethal form of multiple pterygium syndrome

Lyme, disease

Chorea, Huntington

Huntington, chorea

Lown-Ganong-Levine, syndrome

Lowe, syndrome

Louis-Bar, syndrome

Lobstein, disease

Lissencephaly type II

Lissencephaly type I

Lipogranulomatosis

SEIPA syndrome

Dysostosis: acrofacial or acrodental Weyer type

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

Samaritans myopathy

MOMO syndrome

Claude Bernard-Horner, syndrome

Nonne-Milroy, disease

Meige, disease

Lymphedema: congenital type I

Milroy, disease

Sweet syndrome

Brody, syndrome

Facio-genito-popliteal, syndrome

Morning Glory, syndrome

Non-lethal form of multiple pterygium syndrome

Minkowski-Chauffard, disease

Spherocytosis

Microspherocytosis

Neumann, tumor

Monosomy 7q11.23

Deletion 7q11.23

Epulis, congenital

Abernethy, malformation

Left superior vena cava, persistence of the

Senator syndrome

Botulism, infantile

Coloboma: ectatic

Pneumatocele

Atrophy: cortical posterior

Carvajal, syndrome

Dwarfism: Levi type

Bloom -Torre - Mackacek, syndrome

Bloom, syndrome

Galen, vein of, aneurysm

Congenital fascial dystrophy

Leathery skin, syndrome

SICMMU

SMMCI

Wolly hair - palmoplantar hyperkeratosis - dilated cardiomyopathy, syndrome

Stiff skin syndrome

Palmoplantar hyperkeratosis - arhthmogenic cardiomyopathy, syndrome

Solitary median maxillary central incisor

LGMD

Lujan-Fryns, syndrome

Ethylmalonic encephalopathy

Amniotic bands

Cervical cleft, medial, congenital

Lobar emphysema (congenital)

Pharyngo-cervico-brachial, syndrome

Nasal mucocele: congenital

Episodic ataxias: other types

SSKS

SFCI

Hereditary pyropoikilocytosis

Pyropoïkilocytosis (hereditary)

Stomatocytosis

Lutheran null phenotype

South-east Asia ovalocytosis

Nicolaides-Baraitser syndrome

Neuroacanthocytosis

McLeod phenotype

McLeod syndrome (2)

Elliptocytosis

Short QT syndrome, familial

Mirror movements, congenital familial

Laryngomalacia

SFC

Capillary hypermeability, syndrome

Clarkson, disease

Hemoglobin Kirksey

Systemic capillary leak syndrome

IOSCA

Ohaha, syndrome

Spinocerebellar ataxia, infantile type 8

KWWH type II

KWWH type I

Levine-Critchey syndrome

Deletion 9p22

Lacrymonasal cyst, congenital

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

MCM, syndrome

Monosomy 9p

Macrocephaly - cutis marmorata telangiectatica congenita

Atrioventricular block

Al-Aqueel Sewairi, syndrome

Cheney, syndrome

Presenile dementia with osseous cysts

Ectrodactyly - ectodermic dysplasia - cleft lip palate

Isaacs-Mertens, syndrome

LMS

McCabe, disease

MCTO, syndrome

NAO, syndrome

Alfi, syndrome

Mulvihill-Smith, syndrome

Benson, syndrome

Benson, disease

Charlevoix-Saguenay, spactic ataxia

Michel, aplasie de

CHAOS

Bowen, hutterite syndrome

Bowen-Conradi, syndrome

Buccopharyngeal membrane persistance

Maxilla fusion, congenital

Waugh syndrome

Launois-Bensaude benign symmetric lipomatosis 

Oropharyngeal atresia

Chylothorax

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

M.P.P.H

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephaly

Megalencephaly with capillary malformation - polymicrogyria

Syngnathia

Bickers-Adams syndrome

SHARP syndrome

Hemoglobin Bombay

Chudley-Mc Cullough syndrome

Intestinal polyps-spots syndrome

Peutz-Jeghers syndrome

Otocephaly

Cerebroretineal microangiopathy with calcifications and cerebral cysts

Hydrocephalus: X-linked with stenosis of aqueduc of Sylvius

HSAS

Bullous epidermolyses

Hemoglobin hh

Coats plus disease

Hemoglobin para-Bombay

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

Ohdo syndrome

Genitopatellar syndrome

CRMCC

CACH syndrome

Morvan syndrome

Episodic ataxia type 1

Episodic ataxia, familial

Infantile ataxia with diffuse central nervous system hypomyelinisation

Spinocerebellar ataxia type 3

Central diffuse myelinosis

SCA3

VWM syndrome

Machado-Joseph disease

Kagami-Ogata syndrome

Blood group H

Congenital cataract-facial dysmorphy-neuropathy

Congenital diarrhea with exsudative enteropathy

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type I

Ataxia with pigmentary retinopathy

Spinocerebellar ataxias

Marden-Walker-like syndrome

Hyperiminodipeptiduria

Von Recklinghausen disease

Van den Ende-Gupta syndrome

Deficiency in prolidase

Prolidase, deficiency in

Congenital lobar emphysema

Uncombable hair syndrome

KBG 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)

Malabsorptive congenital diarrhea by dysgenesis of enteroendocrine cells 

Cowchock syndrome

Deficiency in proopiomelanocortine

Oculopalatoskeletal syndrome

Gowers disease

Distal type 1 myopathy

Type 1 distal myopathy

Laing myopathy

Michels syndrome

Felson venolobar syndrome

Yellow nails syndrome

Tethered cord syndrome

PLOSL

Grange syndrome

COMMAD

Sheehan syndrome

Distal 3p deletion

BMRS Verloes type

BMRS deletion 3p type

BMRS classification

SBBYS

Prieur-Griscelli syndrome

Congenital myopathy with fiber-type disproportion

Amelocerebrohypohydrotic syndrome

Kohlschütter-Töng syndrome

Hereditary neuropathy with liability to pressure palsies

Pyridoxine-dependent convulsions

Obesity due to proopiomelanocortine deficiency

CAKUT

Prader-Willi habitus-osteopenia-camptodactyly, syndrome

X-linked fixed epileptogenic encephalopathy

Intellectual deficiency-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

Chronic diarrhea by hyperactivity of guanylate cyclase 2C

Mohr syndrome

NDH syndrome

Fructosuria, essential

Buphthalmos

Anophthalmia-microphthalmia linked to SOX2 gene

Anophthalmia-microphthalmia

Aposthia

Neill-Dingwall syndrome

Akinetic mutism

Cerebellar mutism

IBD

Lysosomila acid lipase A deficiency

Glaucoma, congenital

Priapism

Nanophthalmia

IPEX

Diabetes mellitus: congenital neonatal with hypothyroidism

Diabetes mellitus: congenital neonatal

Exstrophy

Bladder exstrophy and its different forms

Cerebral reversible vasoconstriction syndrome

Congenital intractable diarrhea with epithelial anomalies

Microvillous atrophy, congenital

Davidson disease

Syndromic diarrhea

Acid lysosomial lipase A deficiency

Spondyloepimetaphyseal dysplasias

Nasu-Hakola, disease

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

Congenital glaucoma

Dysplasia: spondyloepiphyseal type Kimberley

Tufting enteropathy

Congenital neonatal diabetes

Aggrecanopathies

Hip transient synovitis

Transient synovitis of the hip

Retinoblastoma

Peters anomaly or syndrome

Growth osteochondrosis

Cataract: congenital

Congenital cataract

CIBD

Idiopathic hypersomnia

Granulomatous infantile arthritis

Aase-Smith type II

Aase syndrome

Diamond-Blackfan syndrome

Congenital upward displacement of the scapula

High scapula

TPI deficiency

Triosephosphate isomerase deficiency

Sprengel deformity

Lichen striatus

Baker cyst

Trichohepatoenteric syndrome

Kanner syndrome

Citrullinemia type 2

Morning glory disc anomaly

Cerebello-retinal angiomatosis, familial

Rathurn disease

Phosphoethanolaminuria

Microtia-skeletal anomalies-short stature syndrome

Primary autosomal recessive microcephaly

Microcephalies

Meier-Gorlin syndrome

Hypophosphatasia

Caudal regression syndrome

Popliteal cyst

Scheuermann disease

Glycogen storage diseases

Intestinal epithelial dysplasia

Secretory sodium diarrhea, congenital

Secretory chloride diarrhea, congenital

DIAR

Arterial tortuosity syndrome

NAFLD 

NASH

Benign intrahepatic cholestasis

UDA

Bloch-Siemens syndrome

Juvenile kyphosis

Citrullinemia type 1

Whooping cough

Windmill-Vane-Hard syndrome

Stiff person syndrome

Cranio-carpo-tarsal syndrome

Perheentupa syndrome

Mulibrey nanism

NICCD

Hemoglobin Casper

Hemoglobin Southampton

Metatropic dysplasia

Microvillus inclusion disease

Spinal juvenile osteochondrosis

Meyer-Schwickerath disease

Cutis laxa type III

Hirayama disease

Diapneusia

Monarch disease

Oncogenic osteomalacia

Intracranial hypotension

HDL syndrome

Syringomyelia

Craniopharyngioma

Choanal atresia

Laband, syndrome

Waldmann disease

Arterio-portal congenital fistula

Oculo-dento-digital syndrome or dysplasia

Milroy-like disease

Hemoglobin Ypsilanti

Hemoglobin Venusberg

Hemoglobin Lansing

Hemoglobin Bonn

Unstable hemoglobins

Emberger syndrome

Distichiasis-lymphedema syndrome

Aagenaes syndrome

Cerebellar ataxia - deafness - narcolepsy syndrome

Limb-Mammary, syndrome

Familial paroxysmal ataxia with myokymia

POTS

Propping-Zerres, syndrome de

Rapp-Hodgkin syndrome

Torg syndrome

Torg-Winchester syndrome

POTS

Primary osteolysis, syndromes

Multicentric carpotarsal multicentric osteolysis

Lipomembranous osteodystrophy with leucoencephalitis

Urachal cyst

MONA

Accessory diaphragm syndrome

JS-X, syndrome

Dysplasia: mandibulo-acral

Alzheimer: familial disease

ADULT syndrome

Paget-Schroetter, syndrome

Methylmalonic acidemia with homocystinuria

Dystonia: hereditary progressive with diurnal fluctuations

Dystoniea: dopa-sensible

Parkinson:disease, infantile

Segawa syndrome

Osteodystrophy, familial expansive

Conjoined twins

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

Dystonia-fast onset parkinsonism

Dystonia type 12

Tolosa-Hunt syndrome

Siamese twins

SOPH syndrome

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

Urethral duplication

Trisomy 10p

Multicentric hereditary osteolysis

Pulmonary sequestration

Tracheal obstructive fibrinous pseudomembranes

NAM

Amerindians myopathy

Adenomatoid disease of the lung

Hemoglobin Rothschild

Deficiency in pyrimidine 5' nucleotidase

Zika virus infection

Trisomy 10qter

NSIAD

Trisomy 10q

Short stature - optic nerve atrophy - Pelger-Huet anomaly

Hemoglobin Miwate

Hemoglobin Cheverly

Familial spastic paraplegia

MEHMO

Spondyloepiphyseal dysplasia: congenital

Flexures reticular pigment anomaly

Dowling-Degos disease

Deficiency in pyruvate-kinase

Isolated deficiency in ATP synthase

Deficiency in ATP synthase

Horseshoe-shaped lung

Distal duplication 10q

Okamoto syndrome

Perisylvian syndrome, bilateral,  congenital

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

Marfan, neonatal syndrome

Pyle syndrome

MASS syndrome

Naso-digito-acoustic syndrome

Keipert, syndrome

Dysosteosclerosis

CAMS

Bonnet-Dechaume-Blanc syndrome

Retino-encephalo-facial angiomatosis

Carotid artery agenesis

Wyburn-Mason syndrome

Hemoglobin Kansas

Episodic ataxia type 2

Metaphyseal dysplasia: familial

5-oxoprolinase, deficiency

Pseudohermaphrodism XY

Swyer syndrome

Reifenstein syndrome

Proud-Levine-Carpenter, syndrome

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

Proud syndrome

NEDIM

Androgen insensitivity syndrome

Hypospadias

Epispadias

Neonatal marfan syndrome

Epileptic encephalopathy with "bursts-suppression"; early infantile

Finlay-Marks, syndrome

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

GNAO1 encephalopathy

Parkinson Plus

Ring-14 chromosome syndrome

Vitamin B12 deficiency

OCT, deficiency in

Glycerol-kinase, complex deficiency in

Tetra-amelia-multiple anomalies, syndrome

Schinzel phocomelia

Zimmer phocomelia

Familial angioneurotic edema

Todd syndrome

Deafness-cataract-skeletal anomalies, syndrome

Hyperhomocysteinemia

Perry syndrome

Methylene-tetrahydrofolate reductase, deficiency in

Bulbar paralysis: progressive, childhood

Nathalie syndrome

Riboflavine (vitamine B2) carrier deficiency

Fazio-Londe disease

Focal epilepsy: familial, with variable foci

Orofacial impalement

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Multisystemic atrophy

Alice in Wonderland syndrome

Telomeropathies

Shy-Drager syndrome

Deletion 2q32-33

COFG, syndrome

Disseminated lenticular dermatofibrosis

Van den Berghe-Dequeker syndrome

Busche-Ollendorf, syndrome

Osteopoikilosis

Neutropenia, chronic benign familial 

Neutropenia, benign chronic infantile

Chronic infantile neutropenia

Melorheostosis

Ubiquitous glucose-6-phosphatase deficiency

Biermer anemia

Platypnea - orthodeoxia, syndrome

Verner-Morrison syndrome

Glass syndrome

Congenital dyskeratosis

Ciliary dyskinesia: primitive 

Mandibulo-facial François type dysmorphism

Acrofacial dysostosis

Acrofacial or acrodental Weyer type dysostosis

Acrofacial post-axial dysostois

Cleidocranial dysostosis

Hackmann-Di Donato syndrome

FGS

Ulnar aplasia - split foot syndrome

Vitamin B1, deficiency in

Femininzing testicle

Buttiens-Fryns syndrome

Acheiropodia

Oromandibular-shortening of the limbs syndrome

Cosack syndrome

Acromelia-oligodontia

Pyroglutamic aciduria

N-acetyl-aspartic aciduria

Mevalonic aciduria

Alpha-methylaceto-acetic aciduria

PHTS, group

3-hydroxy-3-methylglutaric aciduria

Solamen, syndrome

Carnitine carrier, deficiency in

Monocarboxylate carrier 8, deficiency in

Thymidine phosphorylase, deficiency in

Thiamine, deficiency in

T2, deficiency in

Sulfide oxidase, deficiency in

Pyruvate-kinase, deficiency in

Pyrimidine 5' nucleotidase, deficiency in

Proopiomelanocortine, deficiency in

Phosphorylase b-kinase, deficiency in

3-methylglutaconic, acidurias

CA-VA, 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

Saul-Wilson dwarfism

Encephalopathy with hyperammonemia by carbonic anhydrase VA deficiency

Phosphoglucomutase 1, deficiency in

Carbonic anhydrase II, deficiency in

TRALI

Pectus arcuatum

PBFC

Lipodystrophy: generalized, congenital

FHUFS

Femorofacial syndrome

Os odontoideum

OEIS, complex

Laryngeal duplication

Guibauld-Vainsel syndrome

MOPD type II

Dwarfism with stiff joints and ocular abnormalities

Spanger geleophysic dwarfism

Moore-Federman syndrome

Geleophysic dysplasia

Acromicric dysplasia

Autosomal dominant intellectual deficit-craniofacial anomalies-hypotonia-cardiopathy

KAT6A syndrome

Exostoses: multiple

Cataract-microphthalmia-radiculomegaly-cardiac septal defect, syndrome

OCFD syndrome

Phosphoglycerate mutase 2, deficiency in

Lenz-Majewski nanism

Hyperphenylalaninemic embryopathy

Microphthalmia: syndromic type 2

Lenz microphthalmia

Majewski syndrome (2)

Liberfarb syndrome

Lenz-Majewski syndrome

Lenz syndrome

Harel-Yoon syndrome

Unroofed coronary sinus

WDHA

Migraine in children and adolescents

Oculo-cardio-facio-dental syndrome

Bonnevie-Ullrich syndrome

VIPoma

Mitochondrial acetyl-CoA thiolase, deficiency in

MCT8, deficiency in

Hydroxy-methylglutarylCoA lyase, deficiency in

Hepatic glycogen synthase, deficiency in

Chitayat syndrome

Quebec platelet disorder

Paraesophageal hernia

Diaphragmatic hernia, congenital

Congenital diaphragmatic hernia

Maternal phenylketonuria, syndrome

Cytokine Release Syndrome

Phenylketonuria, maternal

Monosomy X

Pemphigus

Iniencephaly

Linear atrophoderma of Moulin

Meckel's diverticulum

Moulin, linear atrophoderma

Middle aortic syndrome

Descending aorta coarctation

Gentile, syndrome

Amaurosis

Phosphoglycerate kinase, deficiency in

CRS

Lipedema

Hereditary hemochromatoses

Myelomeningocele

Meningocele

Meningocele manqué

Freeman-Burian syndrome

Wiedemann-Steiner syndrome

Hypophyseal dwarfism type 2

Globoid cells leucodystrophy

DOOR syndrome

Nutcracker syndrome

Spina bifida

Lipomatosis, symmetric, painful

Gilles de la Tourette syndrome

Dercum, disease

Ladd, bands

Neuroleptic Malignant syndrome

Chorea-acanthocytosis

Acanthocytosis

Scombroid syndrome

Mennonites

Scabies

Amish

Verloes-Van Maldergem-de Marneffe syndrome

Neurolipomatosis

Hereditary hyperexplexia

PARK

DICER1, syndrome

Pleuropulmonary blastoma

Bradydactyly-elbows and wrists dyplasia, syndrome

Liebenberg syndrome

Congenital galactosemia

Aceruloplasminemia

Robinow-Sorauf syndrome

Diaphano-spondylo-dysostosis

Antopol disease

Oculocerebrofacial, Kaufman type syndrome

Smooth muscle dysfunction syndrome

Tatton-Brown-Rahman syndrome

Doubled-chambered right ventricle

Stalker-Chitayat syndrome

Schaaf-Yang syndrome

Hypomelanosis of Ito

Triple X syndrome

XXX syndrome

Trisomy X

Trisomy 16

Torus palatinus

Epidermic hamartoma

Atypical cholinesterases

Boylan-Dew-Greco syndrome

Mazzanti syndrome

Noonan syndrome-like disorder with loose anagen hair

Cephalopolysyndactyly

Greig syndrome

Mandibulo-palpebro-ptosis synkinesis

Congenital facial synkinesies

Hemoglobin Titusville

Lipoprotein lipase, deficiency in

Deficiency in lipoprotein lipase

Camp(t)omelic dwarfism

Cerebro-facio-articular syndrome

Camp(t)omelic dysplasia

Brachy-cephalo-fronto-nasal dysplasia

Areflexic dystasia: hereditary

Koussef-Nichols syndrome

Congenital hypomyelinizing neuropathy

LCCS

Achalasia

Congenital muscular dystrophies

Muscle dystrophies: congenital

Charlie M syndrome

EA2

EA1

Camp(t)pomelic acampomelic dysplasia

High altitudes polycythemia

Hemochromatosis

Smith-Kingsmore syndrome

Nance-Horan syndrome

Microspherakia-metaphyseal dysplasia

Hand-Foot-Genital syndrome

Craniostosis

craniosynostoses

Craniostenoses

Sacrococcygeal teratoma

Ptosis-iridic coloboma-intellectual deficit, syndrome

Noonan-like syndrome

Chronic mountain sickness

Teebi syndrome

Andes mountains sickness

Monge disease

MLASA

Lumbo-costo-vertebral syndrome

Fryns-Aftimos syndrome

Cerebro-fronto-facial type 3 syndrome

Baraitser-Winter syndrome

Frantz tumor

Tosti syndrome

Teebi hypertelorism

Van Maldergem syndromes

CMS (chronic mountain sickness)

Anauxetic dysplasia

GLOW, syndrome

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

Neutrophilic chronic atypical dermatosis - lipodystrophy - fever, syndrpome

Acromesomelic type Hunter-Thompson dysplasia

Cardiac ectopia

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

Acromesomelic type Maroteaux dysplasia

LPAC syndrome

Woodhouse-Sakati syndrome

Jael syndrome

Cystic fibrosis

Early-onset parkinson disease

Morbihan syndrome

DYT5

Low phospholipid-associated cholelithiasis

Distal myopathy with rimmed vacuoles

Inclusion body type 2 myopathy

Hereditary inclusion body myopathy type 2

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

Nonaka myopathy

Faciogenital dyplasia

Intellectual deficiency - 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

JMP

GNE myopathy

Carrington, disease

Girdles dystrophies

Muscular dystrophies

Muscular dytrophy with micropolygyria

Muscular congenital dystrophies

Muscular facio-scapulo-humeral type dystrophy

Muscular hypertonic dystrophy: affecting native Canadians

Muscular oculopharyngeal dystrophy

Myotonic dystrophies

Osteochondromuscular dystrophy

Thanatophoric dystrophy

Ectodermic - anhidrotic dysplasia

Amsterdam dawarfism

Dopa-sensible dystonia

Bushy, syndrome

Inferior vena cava , congenital anomalies of the

Inferior vena cava, agenesis

Ferroportine, disease

Duncan, disease

XLP

PPB familial tumor and dysplasia syndrome

Bantu siderosis

Purtilo syndrome

Macrocephaly-intellectual deficit-autism, syndrome

Eosinophilic pneumopathy: chronic idiopathic

Pseudometatropic dysplasia

Childhood migraine

Frontometaphyseal dyplasia

Frontonasal dysplasia

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

Fast-onset parkinsonism - dystonia

Osseous osteosclerotic dysplasia: lethal

Hereditary progressive dystonia with diurnal fluctuations

Renal multicystic dysplasia

Septo-optic dysplasia

Spondylocostal dysplasia

Spondyloepiphyseal dysplasia with nephrotic syndrome

Spondylometaphyseal dysplasias

Spondyloepiphyseal type Kimberley dysplasia

Spondylothoracic dysplasia

Right ventricular arhythmogenic dysplasia

Spinal dyraphisms

Vesico-sphincteral dyssynergy: functional

Ectodermic type 3 dysplasia

Osseous familial dysplaia

Facio-oculo-acoustico-renal syndrome

POIC

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

Churg-Strauss, syndrome

Filippi, syndrome

Dystrophy: oculopharyngeal muscular 

Donnai-Barrow, syndrome

Ochoa, syndrome

Guanidinoacetate methyltransferase, deficiency in

COACH, syndrome

Ullrich myopathy

Hauptmann-Tannhauser, muscular dystrophy

Cor triatriatum

Bethlem, myopathy

Alexander, disease (2)

Sacral agenesis syndrome

FOAR syndrome

Dysplasia: spondylothoracic

Dysplasia: dermic cerebellotrigeminal

Gomez-Lopez-Hernandez, syndrome

Tricho-rhino-phalangeal syndrome

Langer-Giedion, syndrome

Cantrell, pentalogy

Kunze-Riehm, syndrome

Michelin tyre baby, syndrome

Epilepsy: infantile myoclonic severe

Trisomy C

Trisomy 8

Barbeau, disease

Microdeletion 22q11.2

Chronic intestinal pseudoobstruction (CIPO)

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)

Crisponi, syndrome

Kleine-Levin, syndrome

Warkany syndrome

Monosomy 1p36

Ogilvie, syndrome

Pseudoachondroplasia

Pierre-Robin-hyperphalangia-clinodactyly

Palato-digital type Catel-Manzke, syndrome

Monosomy 10 p

Microdeletion chromosome 10

Feingold 2, syndrome

Dysplasias: spondylo-epi-metaphyseal

Deletion 10pter

Catel-Manzke, syndrome

Dysplasia: spondylo-epiphyseal congenital

Phelan-McDermid, syndrome

Perrault, syndrome

Deletion 22q13

Deletion 1p36

Golabi-Rosen, syndrome

Proteus syndrome

Nevo, syndrome

Gigantism

Cramer-Niederdellmann, syndrome

Smith-McCort dysplasia or syndrome

Sandhoff disease

Samter triad

Dystrophies: muscular

Carcinoid, syndrome

Lysinuric protein intolerance

Aminoaciduria: hyperdibasic type II

PANDAS

Ismerlund-Gräsbeck, disease

Deficiency in hydroxy-methylglutarylCoA lyase

Coats, disease

Pseudohypoaldosteronism type 1

Intrahepatic biliary tracts paucity

Dwarfism: Laron type

Liddle, syndrome

Roger disease

Laron, syndrome

Beals, syndrome

Alagille-Watson syndrome

Delta-storage pool disease

Platelet storage pool disorder, disease

Marie-Sainton, syndrome

Walt Dysney dwarfism

Myhre syndrome

Osteodysplastic gerodermia

Cutis laxa autosomic recessive type Debré

ARCL2

ARCL1

Growth hormone insensitivity syndrome

Parsonage-Turner, syndrome

Rasmussen, syndrome

CAPS (2)

Seemanova type 2 syndrome 

ROHHADNET syndrome

Nijmegen breakage syndrome

Brachial plexus acute neuritis

NBS

Cryopyrinopathies

Berlin breakage syndrome

Ataxia-telangiectasia variant 1

Coffin-Lowry, syndrome

Amyotrophia: nevralgic

Dunningan, syndrome

Nijmegen, syndrome

Cardiac shunts

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

AT V1

Klüver-Bucy, syndrome

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

Tako-Tsubo syndrome

Nicolau, syndrome

BSCL

Dysplasia: frontometaphyseal

Deficiency in carnitine-acylcarnitine translocase

Gorlin Cohen, syndrome

PLRS

MAD

Lawrence-Seip, syndrome

Lawrence, syndrome

Köbberling, syndrome

FPDL

Dysplasia: acromandibular

Lipodystrophies:partial

Lipodystrophy: generalized acquired

Myopathies: congenital

Dysplasia: metatropic type II

Landau-Kleffner, syndrome

Aphasia: acquired during infancy with epilepsy

SC syndrome

Roberts syndrome

Klippel-Trénaunay, syndrome

De Barsy, syndrome

Hyperglycinemia, non-ketotic

Myasthenias: congenital

Dysplasia: diaphyseal progressive

Camurati-Engelmann, syndrome

Deficiency in carnitine carrier

Dysplasia: pseudometatropic

Dystrophies of the girdles

Dysplasia: Kniest

Swiss Cheese cartilage syndrome

Kniest, syndrome

Shprintzen-Goldberg syndrome

Dutch-Kentucky, syndrome

Loeys-Dietz, syndrome

Furlong, syndrome

CCA syndrome

Beals-Hecht, syndrome

Dyggve-Melchior-Clausen, syndrome

Asperger, syndrome

Laryngo-onycho-cutaneous, syndrome

Cerebrotendinous xanthomatosis

Lentiginosis, cardiomyopathic 

Multiple lentigines, syndrome

Strümpell-Lorrain disease

Spastic paraparesis

Spastic paraplegia: familial

Usher syndrome

Gusher, syndrome

Nesidioblastosis

Hyperinsulinism: congenital

SC-phocomelia syndrome

DRESS syndrome

LUMBAR syndrome

CADASIL

Shabbir syndrome

L.O.C., syndrome

Kindler, syndrome

Gelineau, syndrome

Familial hypokaliemia and hypomagnesemia

Dystrophy, thanatophoric

Sarcoglyconopathies

Erb, myopathy

Dystrophy:muscular, facio-scapulo-humeral

Deficiency in CACT

Gunther, disease

Edwards (2), syndrome

Alpha granules, thrombocytic deficiency in

Pseudoxanthoma elasticum

Elastinopathies

Sack-Barabas syndrome

Herlyn-Werner-Wunderlich syndrome

Grönblad-Strandberg-Touraine, syndrome

Gradenigo, syndrome

Macrothrombopathies: hereditary

Exocardia

Epiphyses: punctuated (disease)

Facio-scapulo-humeral, muscular dystrophy

Encephalitis: diffuse periaxial

Factor VII, constitutional deficiency in

Ectocardia

Sebastian syndrome

Fechtner, syndrome

Epstein, syndrome

MYH9, syndrome

Diffuse myelinoclastic sclerosis

Sudanophilic leucodystrophy

Addison-Schindler, disease

Schilder disease

Timothy syndrome

Epilepsy with "ragged-red-fibers"

Furlong-Kurczynski-Hennessy, syndrome

Pseudo-Morquio type 1, disease

Deficiency in hepatic glycogen synthase 

(alpha)-Glucosidase acid, deficiency in 

Deficiency in glucose-6-phosphate translocase

Hallervorden-Spatz globus pallidus degenerescence 

Gilbert-Lereboullet, syndrome

Gasser, disease

Summitt and de Goodman syndrome

TNF Receptor Associated Periodic Syndrome (TRAPS)

TRAPS

Familial cold-induced urticaria

Granulomatosis: orofacial

FRAXE 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

Familial Cold Auto-Inflammatory Syndrome

FCAS

Favism

Intrinsic factor, congenital deficiency in

Melkersson Rosenthal, syndrome

Multifocal chronic recurrent osteomyelitis

Dwarfism: Robinow type

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

Barlow, disease

Congenital portosystemic shunt

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

SAPHO syndrome

Primordial microcephalic type Alazami dwarfism, syndrome

LOGIC syndrome

Laubry-Pezzi syndrome

DIRA syndrome

Alazami syndrome

HDR syndrome

Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy, syndrome

Morvan fibrillary chorea

Fibrillary chorea

Witteveen-Kolk syndrome

Congenital skin aplasia - epibulbar dermoids syndrome

Gräsbeck-Imerslund, disease

FRAXF syndrome

Hyperimmunoglobulinemia D, syndrome

Antiphospholipid antibodies syndrome

Adiponecrosis, subcutaneous, neonatal

Cytosteatonecrosis, neonatal

Leukemia, neonatal and of the small infant

Leukemia, myelomonocytic

Leukemia, chronic myeloid

Leukemia, acute myeloid

Arantius duct agenesis

Ocular-ectodermal syndrome

Ductus venosus agenesis

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

Aciduria: mevalonic

Leukemia, acute lymphoblastic

SAPL

Glycoproteinoses

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

KISS syndrome

Schmahmann syndrome

PMIS

Hugues syndrome

Mesoblastic nephroma

Bolande tumor

Brodie abscess

FOXG1 syndrome

Rett-like syndrome

Atypical Rett syndrome

Calcifying uremic ateriolopathy

Calciphylaxis

Trichodentoosseous syndrome

APS(2)

Halasz, syndrome

Pectus excavatum

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

KIDD Kinder syndrome

Hoyeraal-Hreidarsson, syndrome

Harlequin syndrome

Dyskeratosis: congenital

Benign congenital myopathy

Wolfram-type syndrome

Megaloblastic anemia responding to thiamine

TRMA

THMD

Thiamine pyrophosphokinase, deficiency in

Thiamine Metabolism Dysfunction

Evans myopathy

MIS-C

Revesz syndrome

PSS

Creatine synthesis deficit

Deficiency in creatine

Cold agglutinin disease

Epiphyseal dysplasia - microcephaly - nystagmus, syndrome

Infantile papulous acrodermatitis

Aciduria: 3-methylglutaconic type 6

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

MEGHDEL syndrome

MEGDEL syndrome

Lowry-Wood syndrome

Infantile tremor syndrome

Keratosis exfoliativa congenita

Bruck syndrome

Peeling skin syndrome

Elsahy-Waters syndrome

Brachioskeletogenital syndrome

Perineal groove

CPLSS syndrome

Cleft palate-lateral synechia syndrome

Pelizaeus-Merzbacher soudanophilic leucodystrophy

Pharyngolaryngeal bands

Buruli ulcer

Vitiligo

Gianotti-Crosti disease

AIMAH

DMC, syndrome

Cherubism-gingival fibromatosis-intellectual retardation syndrome

Ramon syndrome

Question mark ears syndrome

MIH

Jalili syndrome

Adrenal hyperplasia

Cone dystrophy: progressive

Auriculocondylar syndrome

Biliary atresia

Creatine transport deficit

Hypophyseal deficiencies: combined congenital

Addison disease

Cushing, syndrome or disease

Schmidt syndrome

Polyglandular type 1 or 2 syndrome

Familial glucocorticoid Deficiency

FGD

Deficiency in glucocorticoids: familial, isolated

Retractile myopathy

Migeon syndrome

APS

APECED syndrome

Heimler syndrome

Amelogenesis imperfecta

Anton-Babinsky, syndrome

Brunner syndrome

Cenani-Lenz, syndrome

Hansen, disease

Banti-Senator, syndrome

Senator syndrome

Leprosy

Isolated portal hypertension

Banti, syndrome

FPIES

Eosinophilic esophagitis

WABS

HUPRA, syndrome

Brachydactyly - arterial hypertension, syndrome

Lutz-Darier-White, disease

Ataxia - hypodontia - hypomyelinisation

Red ear, syndrome

HHHH, syndrome

4H, syndrome

Dibasic proteins intolerance with lysinuria

Triple H syndrome

Hyperornithinemia - Hyperammoniemia - Homocitrullinuria

HHH, syndrome

Retino-cochleo-cerebral vasculopathy

Mohr-Tranebjaerg, syndrome

Juvenile sulfatidosis

Cholesterol esters storage disease

Fibrous polyostotic dysplasia

Lymphogranulomatosis: benign

Besnier-Boeck_Schaumann disease

BBS disease

Weissenbacker-Zweymuller syndrome

Sarcoidosis

BAMS

Culler-Jones syndrome

Bosma-Henkin-Christiaesen syndrome 

Warsaw Breakage syndrome

Austin disease

RED M syndrome

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

Zimmermann-Laband syndrome

Syndactylies

Mucosulfatidosis

Sclerosteosis

Birt-Hogg-Dubé, syndrome

Congenital torticollis

Pierre Robin sequence-hyperphalangia-clinodactyly

RASopathies

Noonan syndrome, with lentiginosis

Mallory-Weiss, syndrome

Boerhaave, syndrome

Cortical generalized hyperostosis

Hyperphosphatasemia: late

Neurofibromatosis 1-like, syndrome

SICRET syndrome

Van Buchem syndrome

Hornstein-Knickenberg, syndrome

Legius, syndrome

Cardio-facio-cutaneous, syndrome

Wong syndrome

ICF1 syndrome

Deficiency in vitamin B1

Beriberi

Avitaminosis B1

Deficiency in thiamine

Braegger, syndrome

Sternal cleft

NF1-like, syndrome

Haberland, syndrome

Hydranencephaly

Hemoglobin Saint Mandé

Monosomy 11q (distal)

Deletion 11q (telomeric)

Deletion 11q (distal)

Singleton-Merten dysplasia / syndrome

Keppen-Lubinsky syndrome

Lipomatosis: encephalo-cranio-cutaneous

Lane-Hamilton, syndrome

Idiopathic pulmonary hemosiderosis

CODAS syndrome

Heiner, syndrome

Temple-Baraitser 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

Cerebro-oculo-dento-auriculo-skeletal, syndrome

Fibrofolliculoma with trichodiscoma and acrochordons

Susac syndrome

Pulmonary hemosiderosis

Aleppo boil

MAO deficiency

Curry-Jones syndrome

CIPO

Intracranial hypertension, idiopathic

Pseudotumor cerebri

Epilepsy with occipital paroxysms

Dubini, syndrome

Chorea, Syndenham

Bergeron, chorea

Sydenham chorea

Lesti-Hollister-Rimoin syndrome

Oriental sore

Factor X, constitutional deficiency in

Vogt-Koyanagi-Harada disease

Leishmaniasis

BPES syndrome

Deficiency in molybdenum cofactor

Peri-radicular cyst

Extradural arachnoid cyst

Jodasshon-Lewandowsky, syndrome

Jackson-Lawler, syndrome

Pachyonychia congenita

Inclusion body myositis

BECOP

Dicarboxylic aciduria

Alacrima, congenital

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

Floating Harbor syndrome

Sakati-Nyhan-Tisdale syndrome

Ankyloglossia (superior), syndrome

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

ACPS

Congenital absence of the pericardium

Myxoma, atrial

Digitotalar dysmorphism

CAPOS syndrome

Aspirin-like defect, syndrome

Follicular ichthyosis-atrichia-photophobia, syndrome

OPDM syndrome

Oculopharyngodistal myopathy

IFAP/BRESHECK, syndrome

IFAP, syndrome

Hereditary macrothrombopathies

Tarlov cyst

Pericardium, congenital absence of the

Atrial myxoma

ODOD syndrome

Ataxia with lactic acidosis type 2

Botryomycoma

Flexor spasms

Pyruvate carboxylase deficiency

Congenital disseminated pyogenic granuloma

Pyogenic granuloma

Pyruvate dehydrogenase, deficiency in

Hereditary thrombophilia due to a mutation of the prothrombin

Prothrombin, mutation G20210A of the

CAP

Mirror movements, congenital isolated

Retinoschisis-hemeralopia: precocious

Moersch et Woltman, syndrome

Stiff man, syndrome

Hemoglobin FM-Osaka

Deletion 13q14

Hip osteochondritis: primitive infantile

Diastrophic dysplasia

MSUD

Branched-chain ketoaciduria

Congenital contralateral isolated synkinesis

Omphalocele

SNEL

Giant omphalocele

Phytosterolemia

Paris-Trousseau thrombocytopenia

Thrombocytopenias, familial, isolated

Sitosterolemia

CAMT

Congenital amegakaryocytic thrombocytopenia and radioulnar synostosis

Amegakaryocytic thrombocytopenia

York syndrome

Oculootoradial syndrome

Tubular aggregate myopathy

Glossopalatine ankylosis

Congenital contralateral familial synkinesis

Amish-brittle hair, syndrome 

LCHAD

Tay syndrome

SIBIDS syndrome

Sabinas syndrome

Pollitt syndrome

PIBIDS, syndrome

ONMRS

Itin, syndrome

IBIDS, syndrome

HNPCC syndrome

Chronic urticaria with macroglobulinemia

BIDS

Angiomatosis: cutaneous and digestive

Trichothiodystrophies

Sezari syndrome

Schnitzler syndrome

Raine, syndrome

Shteyer syndrome

Primrose, syndrome

Exocrine pancreatic insufficiency - dyserythropoietic anemia - calvarial hyperostosis

SUNA syndrome

SUNCT syndrome

Dysplasia: oculo-skeletal

Dysplasia: osseous osteosclerotic lethal

Cafe-au-lait spots disease

Bertolotti, syndrome

Dystrophy: facio-scapulo-humeral

Landouzy-Dejerine myopathy

Pulmonary veins stenosis

Coronary artery fistula

Macrodactyly

Body hemihyperplasia

Hemi-3, syndrome

PERM syndrome

Mandini, dysplasia

Chronic urticaria with gammapathy

Hemihypertrophy

Facio-auriculo-vertebral, syndrome

Neurofibromatosis type VI

Neurofibromatoses

Myotubular myopathy

Zebra bodies myopathy

Hyaline bodies myopathy

Myopathy: cardiosquelettic - neutropenia

Centro-nuclear myopathies

Hamamy, syndrome

Evans, syndrome

Core-rod myopathy

Megalodactyly

Opiz trigonocephaly C

Aciduria: 3-méthylglutaconic type 3

Aciduria: 3-methylglutaconic type 1

Acidurias: 3-methylglutaconic

Tomaculous neuropathy

Microdeletion (heterozygotus)17p11 .2p12

Marles, syndrome

Larrey, hernia

HNPP

Neuropathy, hereditary, with liability to pressure palsies

MOTA syndrome

Marshall-Stickler, syndrome

Mitochondrial diseases

Behr, syndrome

Traboulsi syndrome

Spear syndrome

Richter disease or transformation

PDAC syndrome

Syndromic microcephaly type 9

Meacham-Winn-Culler, syndrome

Meacham, syndrome

Funnel chest

Chicken breast syndrome

Diabetes-hypogonadism-deafness-intellectual deficit, syndrome

BNAR syndrome

Dysferlinopathy

Agenesis: tracheal

3MC, syndrome

Roussy-Levy syndrome

Ritscher-Schinzel syndrome

Thrombotic thrombocytopenic familial purpura

Polyneuropathy with hypomyelinisation (congenital)

Infant hypertrophic neuropathy

Sensorimotor neuropathy, hereditary

Hypodontia-ungueal dysplasia, syndrome

Dysplasia: ectodermic type 3

Aciduria: 3-methylglutaconic type 4

Miyoshi myopathy

Aciduria: 3-methylglutaconic type 5

Teeth and nails, syndrome

DCMA syndrome

Atelosteogenesis

Witkop syndrome

Upshaw-Shulman syndrome

Thrombotic familial microangiopathy

Thrombotic microangiopathies

Clefts: lip, palate, lip and palate

3C, syndrome

Costeff, syndrome

Oculogenitolaryngeal syndrome

Dysplasia: cranio-cerebello-cardiac

Lou Gehrig, disease

Echinococcosis

Cast, syndrome

Polymyositis

Hypobetalipoproteinemia: severe early

Dermatopolymyositis

Dermatomyositis

Bassen-Kornzweig, disease

Matthew-Wood, syndrome

Marden-Walker, syndrome

C d'Opitz, syndrome

Riga-Fede disease

Amyotrophic lateral sclerosis

Scott craniodigital syndrome, with mental retardation

Bart, syndrome

Pyloric atresia

Lafora, disease

Rogers syndrome

Microphthalmia type 3

MFDM, syndrome

MCOPS3

Head nodding syndrome

Posner-Schlossman, syndrome

Nodding, syndrome

C, syndrome

Aplasia: Michel's

LAL, deficiency in

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

IMAGe syndrome

Deficiency in 11-B-hydroxysteroid déhydrogenase cortisol 

Kommerell: diverticulum

Systemic scleroderma

PORD, syndrome

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

Duplication 17p11.2

Laurin-Sandrow, syndrome

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

Dysplasia: acromesomelic Grebe type

Anti-synthetases, syndrome

Abetalipoproteinemia

Tongue-tie

Pulmonary lymphangiectasy: congenital

Papillo-renal, syndrome

CCFDN

Cataracts: congenital - facial dysmorphy - neuropathy

Bartsocas-Pappas, syndrome

MADD

Diprosopus

Diprosopus

Tracheal atresia

Tracheal stenosis: congenital

Laryngeal web, congenital

Laryngeal atresia

Marinesco-Sjögren, syndrome

Du Pan, syndrome

Pectus carinatum

Esophageal atresia

Lusoria artery

Aortic arch, anomalies

Ankyloglossia

AEG, syndrome

G6PD, deficiency in

Reno-hepato-pancreatic syndrome

Renal coloboma syndrome

RCAD syndrome

Renal medullary cystic disease

Holoprosencephaly - renal, cardiac, radial abnormalities

Kystic renal diseases

Grebe, syndrome

Fuhrmann-Rieger-De Sousa, syndrome

Brachydactyly: complex and fibular hypoplasia

Bosma, syndrome

Aplasia/hypoplasia of the limbs and pelvis, syndrome

Al Awadi-Raas-Rothschild, syndrome

Steinfeld syndrome

Polycystic kidney disease, autosomal recessive

Polycystic kidney disease, autosomal dominant

Phocomelia: Schinzel type

Dysostosis: mandibulofacial, microcephaly syndrome

Peroneal hypoplasia/aplasia - femur incurvationr - oligodactyly, syndrome