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