User:Davidruben/OrphaNet

From http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf which lists 1827 conditions. Reading the terms of use at http://www.orpha.net/consor/cgi-bin/Education_AboutOrphanet.php?lng=EN&stapage=CGU I suspect permission would need be sought to publish the entire list with its list of prevelances or cases/family numbers across Europe.

I wonder how many of these we have articles for. I note some terms might exist albeit rephrased, eg [Parkinson’s disease dementia, familial] might possibly be included in Parkinson’s disease or [Squamous cell carcinoma of head and neck] is clearly the article Squamous cell carcinoma.


 * Hyperplastic polyposis syndrome
 * Lupus erythematosus, cutaneous
 * Narcolepsy-cataplexy
 * Melanoma, familial
 * Squamous cell carcinoma of head and neck
 * Autism
 * Tetralogy of Fallot
 * Arrhythmogenic right ventricular dysplasia
 * Meniere disease
 * Triplo-X syndrome
 * Chromosome Y deletion
 * Scleroderma
 * Parkinson’s disease dementia, familial
 * Fetal cytomegalovirus syndrome
 * Parkinsonism, young adult onset
 * Follicular lymphoma
 * Non-Hodgkin lymphoma
 * Elliptocytosis, hereditary
 * Osteochondritis dissecans
 * Radiation proctitis
 * Adactylia unilateral
 * Cryptosporidiosis
 * Malignant hyperthermia
 * Charcot-Marie-Tooth disease
 * Transposition of the great arteries
 * Leukemia, B-cell lymphocytic, chronic
 * Acute Respiratory Distress Syndrome, adult
 * Arthrogryposis multiplex congenita
 * Marfan syndrome
 * Hypothyroidism, congenital
 * Retinitis pigmentosa
 * Thrombocythemia, essential
 * Pulmonary fibrosis, idiopathic
 * Post-transplant lymphoproliferative disease
 * Alpha-1 antitrypsin deficiency
 * Breast cancer, familial
 * Esophageal atresia
 * Long QT syndrome, familial
 * Myelodysplastic syndromes
 * Neurofibromatosis type 1
 * Polycythemia vera
 * Polydactyly, preaxial
 * Syndactyly, type 1
 * Thrombocytopenic purpura, autoimmune
 * Isolated anorectal malformation
 * Legg-Calve-Perthes disease
 * VATER association
 * Keratoconjunctivitis, vernal
 * Arthritis, oligoarticular juvenile
 * Dermatitis herpetiformis
 * Atresia of small intestine
 * Atrioventricular canal, partial
 * Gastric cancer
 * Hirschsprung disease
 * Isolated scaphocephaly
 * Monosomy 22q11
 * Myasthenia gravis
 * Spherocytosis hereditary
 * Sucrase-isomaltase deficiency, congenital
 * Tuberculosis
 * Turner syndrome
 * Corpus callosum agenesis neuronopathy
 * Nephrotic syndrome, idiopathic, steroid-sensitive
 * Cardiomyopathy, familial dilated
 * Boutonneuse fever
 * Renal agenesis, bilateral
 * Ichthyosis, X-linked
 * MELAS syndrome
 * Stromal keratitis
 * Leucinosis
 * Acyl-CoA dehydrogenase, medium chain, deficiency of
 * Atrioventricular canal, complete
 * Diaphragmatic hernia, congenital
 * Lennox-Gastaut syndrome
 * Microtia
 * Parkinson disease, genetic type
 * Sarcoidosis
 * Dermatomyositis
 * Polymyositis
 * Fragile X syndrome
 * Myeloma, multiple
 * Anophthalmia - Microphthalmia, isolated
 * Cystinuria
 * Primary biliary cirrhosis
 * Stickler syndrome
 * Williams syndrome
 * Androgen insensitivity syndrome
 * Bronchopulmonary dysplasia
 * Gastrointestinal stromal tumor
 * Soft tissue sarcomas
 * Trisomy 13
 * Buerger’s disease
 * Ehlers-Danlos syndrome, type 3
 * Supravalvar aortic stenosis
 * Von Willebrand disease
 * Cystic fibrosis
 * Gastroschisis
 * Hypergonadotropic ovarian dysgenesis
 * Omphalocele
 * Leukemia, myeloid, acute
 * Focal dystonia
 * MURCS association
 * Stargardt disease
 * Glioblastoma
 * Hepatic veno-occlusive disease
 * Multiple endocrine neoplasia type 1
 * Primary sclerosing cholangitis
 * Sickle cell anemia
 * Prader-Willi syndrome
 * Alopecia totalis
 * Collagenous colitis
 * Hodgkin lymphoma, classical
 * Nephroblastoma
 * 3-methylglutaconic aciduria, type 3
 * Achalasia, primary
 * Bone tumor
 * Cholangiocarcinoma
 * Congenital adrenal hyperplasia
 * Congenital factor II deficiency
 * Dermatofibrosarcoma protuberans
 * Distal myopathy, Welander type
 * Duane syndrome
 * Hemiplegic migraine, familial or sporadic
 * Idiopathic hypereosinophilic syndrome
 * Isolated plagiocephaly
 * Leber amaurosis, congenital
 * Lung cancer, small cell
 * Myelofibrosis with myeloid metaplasia
 * Pancreatitis, acute, recurrent
 * Pheochromocytoma and secreting paraganglioma
 * Polymorphic catecholergic ventricular tachycardia
 * Porphyria, acute intermittent
 * Hereditary neuropathy with liability to pressure palsies
 * Mayer-Rokitansky-Küster-Hauser syndrome
 * Mitochondrial disease of nuclear origin
 * Trisomy 18
 * Giant cell arteritis
 * Lymphedema, congenital
 * Tuberous sclerosis
 * Pierre Robin sequence, isolated
 * Duodenal atresia
 * Henoch-Schoenlein purpura
 * NARP/MILS syndrome
 * Syringomyelia
 * Cutaneous lymphoma
 * Choanal atresia
 * Esophageal carcinoma
 * Leukemia, promyelocytic, acute
 * Polyarthritis, juvenile, rheumatoid factor-negative
 * Hyperlipidemia type 3
 * Hemophilia
 * Kallmann syndrome
 * Common variable immunodeficiency
 * Microscopic polyangiitis
 * Beckwith-Wiedemann syndrome
 * Pulmonary valve stenosis, congenital
 * Oculocutaneous albinism
 * Autosomal recessive cerebellar ataxia
 * Cystathioninuria
 * Facioscapulohumeral muscular dystrophy
 * Fryns syndrome
 * Holoprosencephaly
 * Sotos syndrome
 * Thyroid carcinoma, medullary
 * Isolated trigonocephaly
 * Iminoglycinuria
 * Cat-scratch disease
 * Galactosemia
 * Wegener granulomatosis
 * Angelman syndrome
 * Carcinoma of the gallbladder
 * Leber hereditary optic neuropathy
 * Leukemia, lymphoblastic, acute
 * Osteogenesis imperfecta
 * Polycystic kidney disease, autosomal recessive
 * Smith-Lemli-Opitz syndrome
 * Ectopia lentis isolated
 * Arthritis, systemic-onset, juvenile idiopathic
 * Vasculitis
 * Huntington disease
 * Cerebral arteriovenous fistula
 * Chronic myeloid leukemia
 * Digitotalar dysmorphism
 * Optic atrophy
 * Tibial muscular dystrophy
 * Treacher-Collins syndrome
 * Wilson disease
 * Arthritis, enthesitis-related
 * Biliary atresia
 * Pendred syndrome
 * Retinoblastoma
 * Alzheimer disease, familial
 * Zollinger-Ellison syndrome
 * Familial adenomatous polyposis
 * Hemolytic anemia due to red cell pyruvate kinase deficiency
 * Acromegaly
 * Adrenoleukodystrophy, X-linked
 * Amyotrophic lateral sclerosis
 * Buschke-Ollendorff syndrome
 * Duchenne and Becker muscular dystrophy
 * Epiphyseal dysplasia multiple
 * Familial spastic paraplegia
 * Fructose intolerance
 * Hydrolethalus
 * Isolated brachycephaly
 * Osteosarcoma
 * Parietal foramina
 * Primary ciliary dyskinesia
 * Rheumatic fever
 * Thomsen and Becker disease
 * Tricuspid atresia
 * Tritanopia
 * Acrocephalosyndactyly
 * Monosomy 5p
 * Multiple system atrophy
 * Achondroplasia
 * Lobar emphysema, congenital
 * Retinoschisis, X-linked
 * Steinert myotonic dystrophy
 * Best disease
 * Chronic inflammatory demyelinating polyneuropathy
 * Arthritis, juvenile psoriatic
 * Polyarthritis, juvenile, rheumatoid factor-positive
 * Hemimelia
 * Rett syndrome
 * Amniotic bands
 * Ceroid lipofuscinosis, neuronal
 * Corticobasal degeneration
 * Hartnup syndrome
 * Histidinemia
 * Idiopathic hypersomnia
 * Meckel syndrome
 * Phenylketonuria
 * Smith-Magenis syndrome
 * Mantle cell lymphoma
 * Acute interstitial pneumonia
 * Anisakiasis
 * Muscular dystrophy, limb-girdle, autosomal recessive, type 2a
 * Pemphigus vulgaris
 * Propionic acidemia
 * Supranuclear palsy, progressive
 * West syndrome
 * Classic Ehlers-Danlos syndrome
 * Diastrophic dwarfism
 * Goldenhar syndrome
 * MASA syndrome
 * Rendu-Osler-Weber disease
 * Thanatophoric dwarfism
 * Usher syndrome
 * Guillain-Barré syndrome
 * Graft versus host disease
 * Achromatopsia
 * Choroidal dystrophy, central areolar
 * Hypochondroplasia
 * Mastocytosis, systemic
 * Multiple endocrine neoplasia, type 2
 * Parsonage-Turner syndrome
 * Anencephaly
 * Moyamoya disease
 * Acatalasemia
 * Polyarteritis nodosa
 * Bacterial toxic-shock syndrome
 * Frontotemporal dementia
 * Malaria
 * Nodular regenerative hyperplasia of the liver
 * Opitz BBB/G syndrome
 * Proximal spinal muscular atrophy
 * Pseudoachondroplasia
 * Saethre-Chotzen syndrome
 * Kennedy disease
 * Leigh syndrome
 * Proximal spinal muscular atrophy, type 2
 * Proximal spinal muscular atrophy, type 3
 * Waldenström macroglobulinemia
 * Anorchidia, bilateral
 * Behcet disease
 * BOR syndrome
 * Bullous pemphigoid
 * Cone rod dystrophy
 * Epidermolysis bullosa, epidermolytic
 * Friedreich ataxia
 * Fructose-1,6-bisphosphatase deficiency
 * Gitelman syndrome
 * Heterotaxia
 * Niemann-Pick disease
 * Palmoplantar keratoderma, diffuse, Norrbotten dominant type
 * Pseudoxanthoma elasticum
 * Restrictive cardiomyopathy, idiopathic or familial
 * Meconium aspiration syndrome
 * Waardenburg syndrome
 * 3-methylcrotonylglycinuria
 * Ondine syndrome
 * Peutz-Jeghers syndrome
 * Autosomal dominant cerebellar ataxia
 * GRACILE syndrome
 * Alport syndrome
 * Choroideremia
 * Coats disease
 * Craniopharyngioma
 * Crouzon disease
 * Exostoses, multiple
 * Gaucher disease
 * Giant pigmented hairy nevus
 * Hemicrania, paroxysmal
 * Isolated Klippel-Feil syndrome
 * Kearns-Sayre syndrome
 * Langerhans cell histiocytosis
 * Lateral body wall complex
 * Nail-patella syndrome
 * Non-distal trisomy 12p
 * Ocular albinism, X-linked recessive
 * Persistent hyperinsulinemic hypoglycemia of infancy
 * Poland anomaly
 * Sarcosinemia
 * Van Der Woude syndrome
 * Wolf-Hirschhorn syndrome
 * Sternal cleft
 * Gamma-sarcoglycanopathy
 * Cornelia de Lange syndrome
 * Muenke syndrome
 * Amoebiasis due to free-living amoebae
 * Aniridia
 * Fabry disease
 * 2,8 dihydroxyadenine urolithiasis
 * Kaposi’s sarcoma
 * Walker-Warburg syndrome
 * Charcot-Marie-Tooth disease, X-linked
 * Schizencephaly
 * Antisynthetase syndrome
 * Budd-Chiari syndrome
 * CDG syndrome
 * Darier disease
 * Femur-fibula-ulna complex
 * Idiopathic and/or familial pulmonary arterial hypertension
 * Laryngo-tracheo-oesophageal cleft
 * Multifocal motor neuropathy with conduction block
 * Neuromyelitis optica
 * Porphyria, chronic hepatic
 * Primary lateral sclerosis
 * Severe combined immunodeficiency T- B+, X-linked
 * Alagille syndrome
 * Cat-eye syndrome
 * Netherton disease
 * Mucopolysaccharidosis type 1
 * Apert syndrome
 * Maternal hyperphenylalaninemia
 * Still’s disease, adult onset
 * Oral-facial-digital syndrome, type 1
 * Superficial pemphigus
 * Kabuki syndrome
 * Glycogen storage disease type 2
 * Ligneous conjunctivitis
 * Mucopolysaccharidosis type 3
 * Split hand - split foot
 * Zellweger syndrome
 * Medullary cystic kidney disease, autosomal recessive
 * Cutis verticis gyrata - intellectual deficit
 * 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of
 * Acanthamoeba keratitis
 * Adrenocortical carcinoma
 * Albers-Schonberg osteopetrosis
 * Ataxia-telangiectasia
 * Chondrodysplasia punctata, rhizomelic type
 * Chronic hiccup
 * Churg-Strauss syndrome
 * Clouston syndrome
 * Crigler-Najjar syndrome
 * Dyserythropoietic anemia, congenital
 * Ehlers-Danlos syndrome, type 4
 * Fanconi anemia
 * Gorlin syndrome
 * Harding ataxia
 * Holt-Oram syndrome
 * Hypokalemic periodic paralysis
 * Isovaleric acidemia
 * Joubert syndrome
 * Lambert-Eaton myasthenic syndrome
 * Macrophagic myofasciitis
 * Nemaline myopathy
 * Nijmegen breakage syndrome
 * Ocular coloboma
 * Oculopharyngeal muscular dystrophy
 * Ornithine carbamoyltransferase deficiency
 * Pfeiffer syndrome
 * Proximal myotonic myopathy
 * Pure autonomic failure
 * Rubella syndrome, congenital
 * Rubinstein-Taybi syndrome
 * Sirenomelia
 * Tracheal agenesis
 * Acalvaria <
 * Gaucher disease, type 1
 * Lewis-Sumner syndrome
 * MERRF syndrome
 * Protoporphyria, erythropoietic
 * Niemann-Pick disease, type C
 * Bardet-Biedl syndrome
 * Criss-cross heart
 * Limb-girdle muscular dystrophy
 * Congenital myasthenic syndromes
 * Ebstein anomaly
 * Hepatitis, chronic autoimmune
 * Hyperkalemic periodic paralysis
 * Krabbe disease
 * Mastocytosis, cutaneous
 * Niemann-Pick disease, type B
 * Osteopetrosis, malignant, autosomal recessive
 * Sandhoff disease
 * Albright hereditary osteodystrophy
 * Carbamoylphosphate synthetase deficiency
 * Menkes syndrome
 * Goodpasture syndrome
 * Glycogen storage disease type 4
 * Hyperlipoproteinemia type 1
 * Mucopolysaccharidosis type 2
 * Alpha-sarcoglycanopathy
 * Beta-sarcoglycanopathy
 * Delta-sarcoglycanopathy
 * Wolfram syndrome
 * Cantrell pentalogy
 * Coffin-Lowry syndrome
 * Paroxysmal nocturnal hemoglobinuria
 * Muscular dystrophy, Fukuyama type
 * Beta-thalassemia
 * Birt-Hogg-Dube syndrome
 * Cutaneous neuroendocrine carcinoma
 * Cystinosis
 * Diabetes insipidus, nephrogenic
 * Neurofibromatosis type 2
 * Rieger syndrome
 * Xeroderma pigmentosum
 * X-linked dominant chondrodysplasia punctata
 * Sporadic inclusion body myositis
 * Cowden syndrome
 * Takayasu arteritis
 * Werner syndrome
 * X-linked agammaglobulinemia
 * Townes-Brocks syndrome
 * Aplastic anemia
 * Autosomal dominant severe congenital neutropenia
 * Early onset torsion dystonia
 * Erythroderma, congenital ichthyosiform, bullous
 * Glutaryl-CoA dehydrogenase deficiency
 * Homocystinuria due to cystathionine beta-synthase deficiency
 * Mucopolysaccharidosis type 4
 * Sjögren-Larsson syndrome
 * Lesch-Nyhan syndrome
 * Agammaglobulinemia, alymphocytotic type
 * Campomelic dysplasia
 * Christ-Siemens-Touraine syndrome
 * Relapsing polychondritis
 * Spondylometaphyseal dysplasia
 * Ichthyosis, lamellar
 * Blackfan-Diamond disease
 * Proximal spinal muscular atrophy, type 4
 * Alkaptonuria
 * Aortic arch interruption
 * Congenital muscular dystrophy type 1A
 * Dystonia, dopa-responsive
 * Emery-Dreifuss muscular dystrophy
 * Miller-Dieker syndrome
 * Pterygium popliteal syndrome, autosomal dominant
 * Tay-Sachs disease
 * Transmissible spongiform encephalopathies
 * Dentatorubral pallidoluysian atrophy
 * Wolman disease
 * Epidermolysis bullosa, dystrophic
 * Proximal spinal muscular atrophy, type 1
 * Congenital factor VII deficiency
 * Lipodystrophy, Berardinelli type
 * Niemann-Pick disease, type A
 * Papillon-Lefevre syndrome
 * Pelizaeus-Merzbacher disease
 * Piebaldism
 * Progeria
 * Leptospirosis
 * Severe combined immunodeficiency due to adenosine deaminase deficiency
 * Acrodermatitis enteropathica, zinc deficiency type
 * Diabetes mellitus, neonatal
 * Granulomatous disease, chronic
 * Hyperglycinemia, isolated nonketotic
 * Hyperoxaluria
 * Incontinentia pigmenti
 * Jeune syndrome
 * Short stature due to growth hormone resistance
 * Unverricht-Lundborg disease
 * Von Hippel-Lindau disease
 * Lowe syndrome
 * Sezary’s syndrome
 * Atypical coarctation of aorta
 * Metachromatic leukodystrophy
 * Mucopolysaccharidosis type 6
 * Congenital fibrinogen deficiency
 * Congenital muscular dystrophy, non merosin negative
 * Epilepsy, pyridoxin-dependent
 * Hermansky-Pudlak syndrome
 * Mucolipidosis type 2
 * Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
 * Wiskott-Aldrich syndrome
 * CHARGE syndrome
 * Thyroid carcinoma, anaplastic
 * Xanthomatosis cerebrotendinous
 * Hereditary chronic pancreatitis
 * Bartter syndrome
 * Lissencephaly type 2
 * Medullary cystic kidney disease, autosomal dominant, with or without hyperuricemia
 * Alpha-mannosidosis
 * Congenital factor V deficiency
 * Congenital factor XI deficiency
 * Creutzfeldt-Jakob disease
 * Diffuse leiomyomatosis - Alport syndrome X-linked
 * Distal myopathy, Nonaka type
 * Dyskeratosis congenita
 * Evans syndrome
 * Ewing sarcoma
 * Familial cold urticaria
 * Hemophilia, acquired
 * Lemierre syndrome
 * Leprechaunism
 * Lymphangioleiomyomatosis
 * Neutropenia cyclic
 * Pulmonary alveolar proteinosis
 * Refsum disease
 * Senior-Loken syndrome
 * Stiff-man syndrome
 * Tibial aplasia - ectrodactyly
 * Tibial hemimelia
 * X-linked lymphoproliferative disease
 * Lafora disease
 * Fibrodysplasia ossificans progressiva
 * Epidermolysis bullosa, junctional
 * Mendelian susceptibility to atypical mycobacteria
 * Aceruloplasminemia
 * Botulism
 * Chordoma
 * Craniofacial dyssynostosis
 * Gaucher disease, type 3
 * Osteoporosis - pseudoglioma
 * Tyrosinemia type 1
 * Fibrous dysplasia of bone
 * Congenital factor XIII deficiency
 * Naegeli-Franceschetti-Jadassohn syndrome
 * Congenital muscular dystrophy with integrin deficiency
 * Alpers syndrome
 * Sialidosis type 1
 * Sialidosis, type 2
 * Gaucher disease, type 2
 * Perinatal-lethal Gaucher disease
 * Refsum disease, infantile form
 * Thalidomide embryopathy
 * Angio-osteohypertrophic syndrome
 * Whipple disease
 * Alveolar echinococcosis
 * Esthesioneuroblastoma
 * Rickettsialpox
 * Fetal methyl mercury syndrome
 * Western equine encephalitis
 * Enchondromatosis
 * Familial dysautonomia
 * Adamantinoma
 * Ovotesticular disorder of sex development
 * CADASIL
 * Cronkhite-Canada syndrome
 * Histiocytosis, sinus, with massive lymphadenopathy
 * Malakoplasia
 * Rhabdoid tumor
 * Epidermal nevus syndrome
 * Castleman disease
 * Silver-Russell syndrome
 * 4-hydroxybutyricaciduria
 * Leukocyte adhesion deficiency
 * Alexander disease
 * Alström syndrome
 * CDG syndrome, type Ia
 * Cutis marmorata telangiectatica congenita
 * Focal dermal hypoplasia
 * Gräsbeck-Imerslund disease
 * Lipodystrophy, familial partial, Dunnigan type
 * Melorheostosis
 * Methylmalonic acidemia - homocystinuria
 * Methylmalonicacidemia - homocystinuria, type cbl C
 * Moebius syndrome
 * Norrie disease
 * Rothmund-Thomson syndrome
 * Von Willebrand syndrome, acquired
 * Lipoid proteinosis
 * Eosinophilic gastroenteritis
 * Chronic recurrent multifocal osteomyelitis, juvenile
 * Autosomal dominant hyper IgE syndrome
 * Lipodystrophy, partial acquired
 * Pulmonary hemosiderosis, primary
 * Caroli disease
 * 6-pyruvoyl-tetrahydropterin synthase, deficiency
 * Oculodentodigital dysplasia
 * Pachyonychia congenita
 * Lhermitte-Duclos disease
 * Muir-Torre syndrome
 * Pachydermoperiostosis
 * Aarskog-Scott syndrome
 * Blue rubber bleb nevus
 * Erythrokeratodermia variabilis, Mendes da Costa type
 * Monosomy 22q13
 * Papulosis, malignant atrophic
 * Porphyria, congenital erythropoietic
 * Pseudoarthrosis of clavicle, congenital
 * Tufted angioma
 * Adenosine monophosphate deaminase deficiency
 * Aicardi syndrome
 * Camurati-Engelmann disease
 * Cockayne syndrome
 * Cogan syndrome
 * Costello syndrome
 * Eosinophilic fasciitis
 * Femur bifid - monodactylous - ectrodactyly
 * Glucose-galactose malabsorption
 * Gorham-Stout disease
 * Kimura disease
 * LEOPARD syndrome
 * Marinesco-Sjogren syndrome
 * Multiple pterygium syndrome, lethal form
 * Proteus syndrome
 * Shwachman-Diamond syndrome
 * Subcorneal pustular dermatosis
 * Monosomy 18p
 * Mowat-Wilson syndrome
 * Multicentric reticulohistiocytosis
 * Sideroblastic anemia, X-linked
 * Hyperimmunoglobinemia D with recurrent fever
 * Erdheim-Chester disease
 * Kasabach-Merritt syndrome
 * Celiac disease - epilepsy - occipital calcifications
 * Alpha thalassemia - intellectual deficit, X-linked
 * Carney complex
 * Madras motor neuron disease
 * Infantile neuroaxonal dystrophy
 * Denys-Drash syndrome
 * Dubowitz syndrome
 * Ellis Van Creveld syndrome
 * Fraser syndrome
 * Isolated cloverleaf skull syndrome
 * Isolated humeroradial synostosis
 * Jacobsen syndrome
 * McLeod neuroacanthocytosis syndrome
 * Pitt-Hopkins syndrome
 * Xanthinuria
 * CACH syndrome
 * Bazex-Dupre-Christol syndrome
 * Inflammatory pseudotumor of the liver
 * Regional odontodysplasia
 * Thyrotoxic periodic paralysis
 * Dihydropteridine reductase deficiency
 * Aorto-ventricular tunnel
 * Weill-Marchesani syndrome
 * Vulvovaginal gingival syndrome
 * Robinow syndrome
 * Aicardi-Goutieres syndrome
 * MULIBREY nanism
 * Bickel-Fanconi glycogenosis
 * Myoclonic epilepsy of infancy
 * Achondrogenesis
 * Bloom syndrome
 * Carnitine palmitoyl transferase 2 deficiency
 * Central neurocytoma
 * Cutis laxa
 * Eosinophilic pneumonia, acute, idiopathic
 * Fetal varicella syndrome
 * KID syndrome
 * Mucolipidosis type 4
 * Ochoa syndrome
 * Pulmonary lymphangiectasia, congenital
 * Rasmussen subacute encephalitis
 * Simpson-Golabi-Behmel syndrome
 * Trichorhinophalangeal syndrome, type 1 and 3
 * Autoimmune lymphoproliferative syndrome
 * Bernard-Soulier syndrome
 * Bethlem myopathy
 * Carney triad
 * Chaotic atrial tachycardia
 * CINCA syndrome
 * Cohen syndrome
 * Congenital cataracts - facial dysmorphism - neuropathy
 * Epidermolysis bullosa, acquired
 * Fanconi syndrome
 * Freeman-Sheldon syndrome
 * Fucosidosis
 * Greig syndrome
 * Helicoid peripapillary chorioretinal degeneration
 * Hemochromatosis, neonatal
 * Immunodeficiency by defective expression of HLA class 2
 * Immunodeficiency due to selective anti-polysaccharide antibody deficiency
 * Internal carotid agenesis
 * Larsen syndrome
 * Osteopathia striata - cranial sclerosis
 * Pallister-Hall syndrome
 * Peritoneal leiomyomatosis, disseminated
 * PHACE syndrome
 * Poikiloderma of Kindler
 * Retinal arteries, tortuosity of
 * Roberts syndrome/SC phocomelia
 * Schwartz-Jampel syndrome
 * Seckel syndrome
 * Triple A syndrome
 * Arthrogryposis - renal dysfunction - cholestasis
 * Brown-Vialetto-van Laere syndrome
 * Congenital muscular dystrophy, Ullrich type
 * Hallermann-Streiff-Francois syndrome
 * Hypertrichosis lanuginosa congenita
 * Hypocomplementemic leucocytoclasic vasculitis
 * Ichthyosis congenita, harlequin type
 * Keratosis palmoplantaris - periodontopathia - onychogryposis
 * Panniculitis, cytophagic histiocytic
 * Recessive hereditary methemoglobinemia type 2
 * Susac syndrome
 * Tracheobronchomegaly
 * Tyrosinemia, type 2
 * X-linked spastic paraplegia, type 2
 * Silent sinus syndrome
 * Acrofacial dysostosis, Nager type
 * Allan-Herndon-Dudley syndrome
 * Megacystis microcolon - intestinal hypoperistalsis - hydronephrosis
 * Early infantile epileptic encephalopathy
 * Myoneurogastrointestinal encephalopathy syndrome
 * Encephalopathy due to GLUT1 deficiency
 * Glycogen storage disease due to LAMP-2 deficiency
 * Uhl anomaly
 * Lipodystrophy, acquired generalized
 * Metatropic dwarfism
 * Wells syndrome
 * Rapp-Hodgkin syndrome
 * Tangier disease
 * Cleft lip/mandibule, median
 * Craniometaphyseal dysplasia
 * Lupus erythematosus, bullous systemic
 * Pseudohypoaldosteronism, type 1
 * Ring chromosome 18
 * Diffuse neonatal hemangiomatosis
 * Glutathione synthetase deficiency
 * Hyperferritinemia, hereditary, with congenital cataracts
 * Paraneoplastic pemphigus
 * Cerebro-costo-mandibular syndrome
 * Dyggve-Melchior-Clausen disease
 * Griscelli disease
 * Histiocytosis, sea-blue
 * Homocystinuria without methylmalonic aciduria
 * Hypertrichosis lanuginosa, acquired
 * Ketoacidosis due to betaketothiolase deficiency
 * Neu-Laxova syndrome
 * Non-distal trisomy 10p
 * Pancreatoblastoma
 * Pearson syndrome
 * Toriello-Carey syndrome
 * Vitamin B12 responsive methylmalonic acidemia, type cbl A
 * Double uterus - hemivagina - renal agenesis
 * Ataxia, autosomal recessive, Beauce type
 * Capillary leak syndrome
 * Sporotrichosis
 * Mazabraud syndrome
 * Hennekam syndrome
 * Megacalycosis, congenital
 * Osteodysplasty, Melnick-Needles type
 * Ring chromosome 20
 * Acromesomelic dysplasia, Maroteaux type
 * Acroosteolysis dominant type
 * Adenylosuccinate lyase deficiency
 * Ascher syndrome
 * Benign paroxysmal torticollis of infancy
 * Cholestasis - lymphedema
 * Encephalopathy due to sulphite oxidase deficiency
 * Focal myositis
 * Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
 * Glucocorticoid deficiency, familial
 * Glucosephosphate isomerase deficiency
 * Hyaline fibromatosis, juvenile
 * ICF syndrome
 * Mucosulfatidosis
 * Ocular motor apraxia Cogan type
 * Osteopetrosis, intermediate form
 * Paget disease juvenile type
 * Peters-plus syndrome
 * Prolidase deficiency
 * Rhombencephalosynapsis
 * Ring chromosome 14
 * Schimke immuno-osseous dysplasia
 * Schnitzler syndrome
 * Succinic acidemia
 * Triple H (HHH) syndrome
 * Waardenburg-Shah syndrome
 * Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
 * Blepharo-cheilo-odontic syndrome
 * Branchio-oculo-facial syndrome
 * Cholesteryl ester storage disease
 * Congenital analbuminemia
 * DOOR syndrome
 * Ehrlichiosis
 * Fibular aplasia - ectrodactyly
 * Floating-Harbor syndrome
 * Goldmann-Favre syndrome
 * Granulomatous slack skin
 * Hypoglossia - hypodactyly
 * Midas syndrome
 * Oculo-digito-esophageal-duodenal syndrome (ODED)
 * Shprintzen-Goldberg syndrome
 * Corticosteroid-sensitive aseptic abscesses
 * Pityriasis rubra pilaris
 * Coxo-podo-patellar syndrome
 * Mohr-Tranebjaerg syndrome
 * Encephalocraniocutaneous lipomatosis
 * KBG syndrome
 * Bowen-Conradi syndrome
 * Ear-patella-short stature syndrome
 * Desbuquois syndrome
 * 3M syndrome
 * Ambras syndrome
 * Autosomal dominant hypohidrotic ectodermal dysplasia
 * Babesiosis
 * Carpenter syndrome
 * Chylomicron retention disease
 * Coffin-Siris syndrome
 * Distal monosomy 10q
 * Distal trisomy 10q
 * Distal trisomy 6p
 * Galloway-Mowat syndrome
 * Macrocephaly - Cutis Marmorata Telangiectatica Congenita
 * Methimazole embryofetopathy
 * Phytosterolemia
 * WHIM syndrome
 * Acromicric dysplasia
 * Arterial tortuosity
 * Bruck syndrome
 * Encephalopathy, ethylmalonic
 * Mucopolysaccharidosis type 7
 * Progressive bulbar paralysis of childhood
 * Leukoencephalopathy with brain stem, spinal cord involvement - lactate elevation
 * Hypotrichosis simplex
 * Dysplasia, mandibuloacral
 * Oculocerebrocutaneous syndrome
 * Spondyloenchondrodysplasia
 * Carnitine palmitoyl transferase 1 deficiency
 * Cobb syndrome
 * Hereditary sensory and autonomic neuropathy, type 2
 * Acrocallosal syndrome, Schinzel type
 * Antley-Bixler syndrome
 * Midface retraction syndrome, Schinzel-Giedion type
 * Perrault syndrome
 * Pyogenic arthritis - pyoderma gangrenosum - acne
 * Ring chromosome 1
 * Björnstad syndrome
 * Marshall-Smith syndrome
 * Methylcobalamin deficiency, cbl G type
 * Osteopetrosis, autosomal dominant, type 1
 * Polycystic ovaries - urethral sphincter dysfunction
 * Double outlet left ventricle
 * Olmsted syndrome
 * Segmental odontomaxillary dysplasia
 * Argininemia
 * CDG syndrome, type Ic
 * Intrauterine infection-like syndrome, congenital
 * Non-distal trisomy 8q
 * Tricho-dento-osseous syndrome
 * Agnathia holoprosencephaly situs inversus
 * Anophthalmia - hypothalamo-pituitary insufficiency
 * Camptodactyly - tall stature - scoliosis - hearing loss
 * Carnitine-acylcarnitine translocase deficiency
 * Carnosinemia
 * Cataract cardiomyopathy
 * CHILD syndrome
 * Dermopathy restrictive, lethal
 * Early myoclonic encephalopathy
 * Elejalde syndrome
 * Geroderma osteodysplastica
 * Glossopalatine ankylosis
 * Humeroradioulnar synostosis
 * Marden-Walker syndrome
 * Marshall’s syndrome with periodic fever
 * Mevalonicaciduria
 * Omodysplasia
 * Ophthalmo acromelic syndrome
 * Otopalatodigital syndrome
 * Perlman syndrome
 * Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis
 * Scalp-ear-nipple syndrome
 * SHORT syndrome
 * Triose phosphate-isomerase deficiency
 * Weaver syndrome
 * Acrofacial dysostosis, postaxial
 * Acropectorovertebral dysplasia
 * Crisponi syndrome
 * Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
 * Ectodermal dysplasia - absent dermatoglyphs
 * Encephalopathy due to hydroxykynureninuria
 * Frontometaphyseal dysplasia
 * Glycogen storage disease type 7
 * Linear atrophoderma of Moulin
 * Microcephalic osteodysplastic primordial dwarfism, types 1 and 3
 * Nasopalpebral lipoma - coloboma - telecanthus
 * Neuroectodermal syndrome, Johnson type
 * Neurometabolic disorder due to serine deficiency
 * Obesity due to congenital leptin deficiency
 * Otospondylomegaepiphyseal dysplasia
 * Pontocerebellar hypoplasia type 2
 * Pyle disease
 * Ring dermoid of cornea
 * Spontaneous periodic hypothermia
 * Syndactyly, Cenani-Lenz type
 * Wrinkly skin syndrome
 * Infant epilepsy with migrant focal crisis
 * Jalili syndrome
 * Leukoencephalopathy with bilateral anterior temporal lobe cysts
 * Mosaic variegated aneuploidy syndrome
 * Oral-facial-digital syndrome, type 6
 * Thalamic calcifications, symmetrical
 * Craniolenticulosutural dysplasia
 * Hypertrichosis cubiti - short stature
 * Catel-Manzke syndrome
 * GAPO syndrome
 * Geleophysic dwarfism
 * Insomnia, familial fatal
 * Limb-mammary syndrome
 * Methylcobalamin deficiency type cbl E
 * 3C syndrome
 * Atelosteogenesis, type II
 * Book syndrome
 * Erythrokeratodermia ataxia
 * Keratoderma palmoplantar - spastic paralysis
 * Metachondromatosis
 * Opsismodysplasia
 * Plummer-Vinson syndrome
 * Wiedemann-Rautenstrauch syndrome
 * Filippi syndrome
 * Hepatic veno-occlusive disease - immunodeficiency
 * Bartsocas-Papas syndrome
 * Distal myopathy with early respiratory muscle involvement
 * Infantile onset spinocerebellar ataxia
 * Synspondylism
 * Bronchobiliary fistula, congenital
 * Deletion 2q24
 * Johanson-Blizzard syndrome
 * Phosphoglycerate kinase 1 deficiency
 * Potocki-Shaffer syndrome
 * Treft-Sanborn-Carey syndrome
 * Acro-pectoral syndrome
 * Aortic dilatation- joint hypermobility- arterial tortuosity
 * Pierson syndrome
 * Split hand - split foot - deafness
 * Dehydratase deficiency
 * Odonto-tricho-ungual-digito-palmarn syndrome
 * Craniodiaphyseal dysplasia
 * Fumaric aciduria
 * Rubella panencephalitis
 * 3-methylglutaconic aciduria, type 1
 * Acrorenal syndrome
 * Arrhinia
 * Calvarial doughnut lesions - bone fragility
 * CDG syndrome, type Ib
 * Congenital indifference to pain
 * Craniofrontonasal dysplasia, Teebi type
 * Distal monosomy 8p
 * Gray platelet syndrome
 * Juvenile temporal arteritis
 * Keratosis, Nagashima-type
 * Lacrimo-auriculo-dento-digital syndrome
 * Lipoamide dehydrogenase deficiency
 * PIBIDS syndrome
 * Acromegaloid facial appearance syndrome
 * Acromegaloid facies - hypertrichosis
 * Bronchopneumopathy, chronic, due to TAP deficiency
 * Carey-Fineman-Ziter syndrome
 * COFS syndrome
 * Czech dysplasia, metatarsal type
 * Ectodermal dysplasia, ‘’pure’’ hair-nail type
 * Epidermolysis bullosa simplex - limb girdle muscular dystrophy
 * Hemorrhagic disorders due to collagen receptors deficiency
 * Hypertrichosis, anterior cervical, isolated
 * Ichthyosis bullosa of Siemens
 * IMAGe syndrome
 * Interstitial granulomatous dermatitis with arthritis
 * Keratosis palmaris et plantaris - clinodactyly
 * Laryngeal abductor paralysis - intellectual deficit
 * Lipodystrophy, familial partial, Köbberling type
 * Metaphyseal anadysplasia
 * Orotic aciduria hereditary
 * Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
 * RAPADILINO syndrome
 * Ring chromosome 10
 * Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy
 * 6q terminal deletion
 * Aconitase deficiency
 * Amelo-cerebro-hypohidrotic syndrome
 * Cavitating leukoencephalopathy, progressive
 * Craniosynostosis, Boston type
 * Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
 * Hypomyelination with atrophy of basal ganglia and cerebellum
 * Schopf-Schulz-Passarge syndrome
 * Hypertrichotic osteochondrodysplasia
 * Terminal osseous dysplasia - pigmentary defects
 * Aminopterin embryofetopathy
 * Erythroderma, lethal, congenital
 * Folate malabsorption, hereditary
 * GTP cyclohydrolase I deficiency
 * Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia
 * Leukocyte adhesion deficiency, type III
 * Malonic aciduria
 * Palmoplantar hypokeratosis, circumscribed
 * Wolcott-Rallison syndrome
 * Acromegaly - cutis verticis gyrata - corneal leukoma
 * Glycogen storage, 0 type
 * Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
 * Intellectual deficit, X-linked, South African type
 * Metaphyseal chondrodysplasia, Jansen type
 * Microgastria - limb reduction defect
 * Myhre syndrome
 * Oral-facial-digital syndrome, type 4
 * Orbital leiomyoma
 * Ablepharon macrostomia syndrome
 * Angel-shaped phalango-epiphyseal dysplasia
 * Congenital muscular dystrophy due to lamine A/C deficiency
 * IBIDS syndrome
 * Sensenbrenner syndrome
 * Umbilical cord ulceration - intestinal atresia
 * Anosmia, isolated, congenital
 * Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
 * Meacham syndrome
 * Mirhosseini-Holmes-Walton syndrome
 * Odonto-onycho-dermal dysplasia
 * Taurodontia - absent teeth - sparse hair
 * Wilson-Turner syndrome
 * ADULT syndrome
 * Anophthalmia/microphthalmia - esophageal atresia
 * Atkin-Flaitz syndrome
 * Autosomal recessive limb-girdle muscular dystrophy, type 2G
 * Beta-mannosidosis
 * DEND syndrome
 * Dermo-odonto dysplasia
 * Fingerprints, absence of - milia, congenital
 * Oligocone trichromacy
 * Optic atrophy and cataract, autosomal dominant
 * Ring chromosome 17
 * Aromatase deficiency
 * Charcot-Marie-Tooth disease, type 2H
 * Chondrodysplasia, Blomstrand type
 * Diaphragmatic hernia - exomphalos - corpus callosum agenesis
 * Histiocytosis, progressive mucinous, hereditary
 * Hypotelorism - cleft palate - hypospadias
 * Posterior column ataxia - retinitis pigmentosa
 * Acro-pectoro-renal field defect
 * Alopecia- epilepsy - pyorrhea - mental subnormality
 * Ataxia - deafness - optic atrophy, lethal
 * Atelosteogenesis I
 * Atelosteogenesis, type III
 * Atrial tachyarrhythmia with short PR interval
 * Ballard syndrome
 * Coloboma of macula - brachydactyly type B
 * Coloboma uveal - cleft lip palate - intellectual deficit
 * Distal myopathy with posterior leg and anterior upper limb involvement
 * Distal myopathy with vocal cord weakness
 * Dopamine beta-hydroxylase deficiency
 * Hemolytic anemia due to adenylate kinase deficiency
 * Hypoparathyroidism - deafness - renal disease
 * Intellectual deficit, X-linked - macrocephaly - macroorchidism
 * N-acetyl-alpha-D-galactosaminidase deficiency
 * Osteocraniostenosis
 * Winchester disease
 * Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
 * Atrial septal defect - atrioventricular conduction defects
 * Corpus callosum dysgenesis, X-linked recessive
 * Fibrochondrogenesis
 * Fibular dimelia - diplopodia
 * Foveal hypoplasia - presenile cataract
 * Fuhrmann syndrome
 * Intellectual deficit, X-linked, Snyder type
 * Juvenile polyposis of infancy
 * Lopez-Hernandez syndrome
 * Martinez-Frias syndrome
 * Necrotizing encephalopathy, acute, autosomal dominant
 * PELVIS syndrome
 * Pterygium syndrome, antecubital
 * Trichomegaly - retina pigmentary degeneration - dwarfism
 * CHAND syndrome
 * Chediak-Higashi syndrome
 * Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps
 * Acromesomelic dysplasia, Hunter-Thomson type
 * Arthrogryposis multiplex congenita - whistling face
 * Athabaskan brainstem dysgenesis syndrome
 * Barber-Say syndrome
 * Boomerang dysplasia
 * Cardiac conduction disease, dilated cardiomyopathy and brachydactyly
 * Cataract - intellectual deficit - hypogonadism
 * Cerebro-oculo-nasal syndrome
 * Char syndrome
 * Charcot-Marie-Tooth disease - nephropathy
 * Charcot-Marie-Tooth disease, type 4H
 * Choroido cerebral calcification syndrome, infantile form
 * Colobomatous - microphthalmia - heart disease - hearing loss
 * Deletion 2q37
 * Diffuse palmoplantar keratoderma - acrocyanosis
 * Distal asymmetrical inflammatory myopathy of the upper limbs
 * Distal monosomy 5q
 * Ectodermal dysplasia - skin fragility syndrome
 * Flynn-Aird syndrome
 * Goldberg-Shprintzen megacolon syndrome
 * Hyperkeratosis - hyperpigmentation syndrome
 * Hypomyelination - congenital cataract
 * Ichthyosis follicularis - atrichia - photophobia
 * Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior
 * Intellectual deficit, X-linked, syndromic 7
 * Iris coloboma with ptosis - intellectual deficit
 * Juberg-Hayward syndrome
 * Lipodystrophy, familial partial, associated with PPARG mutations
 * Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
 * Neurodegenerative syndrome, X-linked, Hamel type
 * Nevo syndrome
 * Pollitt syndrome
 * Progressive vertebral fusion, non-infectious, syndromic form
 * Pseudodiastrophic dysplasia
 * Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
 * Succinyl-CoA acetoacetate transferase deficiency
 * Toriello-Lacassie-Droste syndrome
 * Aase-Smith syndrome
 * Acrofacial dysostosis, Rodriguez type
 * Acromelanosis
 * Astley-Kendall dysplasia
 * Cardiocranial syndrome, Pfeiffer type
 * Carpotarsal osteochondromatosis
 * Carpotarsal osteolysis, recessive
 * Cerebral gigantism - jaw cysts
 * Corneal dystrophy - perceptive deafness
 * Deafness - lymphedema - leukemia
 * Diaphanospondylodysostosis
 * Digitorenocerebral syndrome
 * Encephalopathy due to prosaposin deficiency
 * Gaucher disease - ophthalmoplegia - cardiovascular calcification
 * Glomerulonephritis - sparse hair - telangiectasis
 * Greenberg dysplasia
 * Hypopituitarism - microphthalmia
 * Larsen-like syndrome, lethal form
 * Leukocyte adhesion deficiency, type II
 * Lowry-Wood syndrome
 * Myoclonus hereditary - progressive distal muscular atrophy
 * Neonatal ichthyosis - sclerosing cholangitis
 * Pacman dysplasia
 * Palmoplantar porokeratosis of Mantoux
 * Pancreatic hypoplasia - diabetes - heart disease
 * Perioral myoclonia with absences
 * Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
 * Progeria - short stature - pigmented nevi
 * Pseudo-Zellweger syndrome
 * Singleton-Merten dysplasia
 * Thoracolaryngopelvic dysplasia
 * XK aprosencephaly
 * Ataxia - apraxia - intellectual deficit, X-linked
 * Atransferrinemia
 * Bosley-Salih-Alorainy syndrome
 * Brachymorphism - onychodysplasia - dysphalangism
 * Cardiac anomalies - heterotaxy
 * Cardiac anomalies - heterotaxy
 * Cardiomyopathy - cataract - hip spine disease
 * Gamma-glutamylcysteine synthetase deficiency
 * Guanidinoacetate methyltransferase deficiency
 * Intellectual deficit, X-linked, Shashi type
 * Laminopathy, type Decaudain-Vigouroux
 * Macrostomia - preauricular tags - external ophthalmoplegia
 * Methylmalonicacidemia - homocystinuria, type cbl F
 * Microdontia - type I microtia - deafness
 * Oculocerebrofacial syndrome, Kaufman type
 * Tricho-retino-dento-digital syndrome
 * 5-oxoprolinase deficiency
 * Ackerman syndrome
 * Ankylosing vertebral hyperostosis with tylosis
 * Ataxia-deafness-retardation syndrome
 * Brachydactyly - preaxial hallux varus
 * Campomelia, Cumming type
 * Camptodactyly syndrome, Guadalajara type 1
 * COACH syndrome
 * Corpus callosum, agenesis - cataract - immunodeficiency
 * Deafness - skeletal dysplasia - lip granuloma
 * Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures
 * Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
 * Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
 * Intellectual deficit, X-linked, Abidi type
 * Intellectual deficit, X-linked, Vitale type
 * Kallmann syndrome - heart disease
 * Lelis syndrome
 * Leukoencephalopathy - ataxia - hypodontia - hypomyelination
 * Micro syndrome
 * Pancreas agenesis
 * Spondylometaphyseal dysplasia - cone-rod dystrophy
 * Acro-renal-mandibular syndrome
 * Albinism ocular - late onset sensorineural deafness
 * Brachydactyly A6
 * Cardiogenital syndrome
 * CDG syndrome, type Ie
 * CEDNIK syndrome
 * Cleft palate-lateral synechia syndrome
 * Dihydropyrimidinuria
 * Ehlers-Danlos syndrome, type 7C
 * Gamma-glutamyl transpeptidase deficiency
 * Genitopatellar syndrome
 * Hyperostotic dwarfism, Lenz-Majewski type
 * Intellectual deficit, X-linked, severe, Gustavson type
 * Mandibulofacial dysostosis, X-linked
 * MEHMO syndrome
 * Michels syndrome
 * Mitochondrial myopathy with sideroblastic anemia
 * Multiple fibrofolliculoma, familial
 * Neurodegenerative syndrome, X-linked, Bertini type
 * Obesity due to pro-opiomelanocortin deficiency
 * Retinal degeneration - nanophtalmos - glaucoma
 * Retinohepatoendocrinologic syndrome
 * Stern-Lubinsky-Durrie syndrome
 * Torticollis - keloids - cryptorchidism - renal dysplasia
 * X-linked severe congenital neutropenia
 * 3-hydroxy 3-methylglutaryl-CoA (HMG) synthase deficiency
 * Acrofacial dysostosis, Catania type
 * Agonadism - dextrocardia - diaphragmatic hernia
 * Aplasia cutis congenita of limbs recessive
 * Biliary tract malformation - renal failure
 * Blepharophimosis - ptosis - esotropia - syndactyly - short stature
 * CDG syndrome, type Ig
 * Cold-induced sweating syndrome
 * Cutis gyrata - acanthosis nigricans - craniosynostosis
 * Deafness - enamel hypoplasia - nail defects
 * Ectodermal dysplasia, hidrotic, Christianson-Fourie type
 * Ehlers-Danlos syndrome, spondylocheiro dysplastic type
 * Eiken syndrome
 * Epilepsy telangiectasia
 * Fanconi ichthyosis dysmorphism
 * Grange syndrome
 * Hartsfield-Bixler-Demyer syndrome
 * Hypopituitarism - postaxial polydactyly
 * Intellectual deficit - sparse hair - brachydactyly
 * Intellectual deficit, X-linked - psychosis - macroorchidism
 * Intellectual deficit, X-linked, Armfield type
 * Intellectual deficit, X-linked, Zorick type
 * Isotretinoin-like syndrome
 * Keratosis follicularis - dwarfism - cerebral atrophy
 * Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus
 * Moore-Federman syndrome
 * Polysyndactyly - cardiac malformation
 * Serpentine fibula - polycystic kidneys
 * Spasticity - intellectual deficit - epilepsy, X-linked
 * Stormorken-Sjaastad-Langslet syndrome
 * Symphalangism with multiple anomalies of hands and feet
 * Syndactyly - telecanthus - anogenital and renal malformations
 * Thumb stiffness - brachydactyly - intellectual deficit
 * W syndrome
 * Wieacker-Wolff syndrome
 * Zunich-Kaye syndrome
 * Achalasia - microcephaly
 * Acro-fronto-facio-nasal dysostosis
 * Adducted thumbs-arthrogryposis, Dundar type
 * Alopecia - contractures - dwarfism - intellectual deficit
 * ANE syndrome
 * Anonychia microcephaly
 * Arachnodactyly - ossification abnormal - intellectual deficit
 * Ataxia, spinocerebellar, X-linked, type 3
 * Aurocephalosyndactyly
 * Bamforth syndrome
 * Beta-ureidopropionase deficiency
 * Bradyopsia
 * Branchiogenic deafness syndrome
 * CAMOS syndrome
 * CDG syndrome, type Id
 * CDG syndrome, type Ih
 * Charcot-Marie-Tooth disease, type 4J
 * Choanal atresia - deafness - cardiac defects - dysmorphism
 * Cholestasis pigmentary - retinopathy - cleft palate
 * Cleft palate - cardiac defect - genital anomalies - ectrodactyly
 * Craniodigital syndrome - intellectual deficit
 * Craniosynostosis - dysmorphism - brachydactyly
 * Curry-Jones syndrome
 * Dacryocystitis - osteopoikilosis
 * Depigmentation of the iris, acute, bilateral
 * Dermatoosteolysis, Kirghizian type
 * Ectrodactyly - ectodermal dysplasia without clefting
 * Fine-Lubinsky syndrome
 * Frank-Ter Haar syndrome
 * German syndrome
 * Glaucoma - sleep apnoea
 * Humerospinal dysostosis
 * Humeroulnar synostosis
 * Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
 * Ichthyosis - male hypogonadism
 * Intellectual deficit, X-linked - choreoathetosis - abnormal behavior
 * Intellectual deficit, X-linked - cubitus valgus - dysmorphism
 * Intellectual deficit, X-linked, Lubs type
 * Lissencephaly, type III - familial fetal akinesia sequence
 * Lymphedema - cerebral arteriovenous anomaly
 * Macrothrombocytopenia with abnormal proplatelet formation, autosomal dominant
 * Matthew-Wood syndrome
 * Methylmalonicacidemia - homocystinuria, type cbl D
 * Mononen-Karnes-Senac syndrome
 * Nephropathy - deafness - hyperparathyroidism
 * Nephrosis - deafness - urinary tract - digital malformations
 * Oculo-palato-cerebral syndrome
 * Odontomicronychial dysplasia
 * Onycho-tricho-dysplasia - neutropenia
 * P2Y12, deficiency of
 * Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
 * Paraplegia - brachydactyly - cone-shaped epiphysis
 * Pyknoachondrogenesis
 * Sacral hemangiomas - multiple congenital abnormalities
 * Sillence syndrome
 * Woods-Black-Norbury syndrome
 * Cystic hamartoma of lung and kidney
 * Lathosterolosis
 * Sakati-Nyhan syndrome
 * Abruzzo-Erickson syndrome
 * Acrofacial dysostosis, palagonia type
 * Anophthalmia plus syndrome
 * Aortic arch anomaly - peculiar facies - intellectual deficit
 * Aplasia cutis - myopia
 * Arhinia - choanal atresia - microphthalmia
 * Arterial dissection - lentiginosis
 * Autism - facial port-wine stain
 * Autosomal dominant multiple pterygium syndrome
 * Benign exophthalmos syndrome
 * Bilateral microtia - deafness - cleft palate
 * Bile acid synthesis defect, congenital, type 4
 * Bone dysplasia, lethal, Holmgren type
 * Bone fragility - craniosynostosis - proptosis - hydrocephalus
 * Bonnemann-Meinecke-Reich syndrome
 * Brachydactyly - long thumb
 * Cantu syndrome
 * CDG syndrome, type If
 * CDG syndrome, type IIa
 * CDG syndrome, type Ik
 * Chondrodysplasia, lethal recessive
 * Choroideremia - deafness - obesity
 * Cleft lip/palate - intestinal malrotation - cardiopathy
 * Coxoauricular syndrome
 * Cranio osteoarthropathy
 * Craniosynostosis dandy walker hydrocephalus
 * Deafness - peripheral neuropathy - arterial disease
 * Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis
 * Diaphragmatic defect - limb deficiency - skull defect
 * Duker-Weiss-Siber syndrome
 * Ectodermal dysplasia, Berlin type
 * Ectodermal dysplasia, hidrotic, Halal type
 * Ectopia lentis - chorioretinal dystrophy - myopia
 * Endosteal sclerosis - cerebellar hypoplasia
 * Facial onset sensory and motor neuronopathy
 * Familial caudal dysgenesis
 * Gombo syndrome
 * Gorlin-Chaudhry-Moss syndrome
 * Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
 * Growth delay due to insulin-like growth factor I deficiency
 * Growth retardation - microcephaly - digital abnormalities - hypospadias
 * Hereditary sensory and autonomic neuropathy with deafness and global delay
 * Hirschsprung disease - type D brachydactyly
 * Homocarnosinosis
 * Hypogammaglobulinemia due to CD19 deficiency
 * Hypomandibular faciocranial dysostosis
 * Hypomyelination - hypogonadotropic hypogonadism - hypodontia
 * Hypomyelination - hypogonadotropic hypogonadism - hypodontia
 * Hypotrichosis - lymphedema - telangiectasia
 * Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
 * Immunodeficiency with natural-killer cell deficiency
 * Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus
 * Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature
 * Intellectual deficit, X-linked - seizures - psoriasis
 * Intellectual deficit, X-linked, Miles-Carpenter type
 * Intellectual deficit, X-linked, Schimke type
 * Intellectual deficit, X-linked, Seemanova type
 * Intellectual deficit, X-linked, Siderius type
 * Intellectual deficit, X-linked, Stevenson type
 * Intellectual deficit, X-linked, Stocco Dos Santos type
 * Intellectual deficit, X-linked, Stoll type
 * Leukodystrophy with oligodontia
 * Leukoencephalopathy - metaphyseal chondrodysplasia
 * Leukoencephalopathy - palmoplantar keratoderma
 * Macrogyria pseudobulbar palsy
 * Malignant hyperthermia - arthrogryposis - torticollis
 * Metaphyseal acroscyphodysplasia
 * Microcephalic osteodysplastic dysplasia, Saul-Wilson type
 * Microcephaly - micropenis - convulsions
 * Myoclonus - cerebellar ataxia - deafness
 * Myopathy due to calsequestrin and SERCA1 protein overload
 * Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
 * Neuroectodermal-endocrine syndrome
 * Oculo-oto-facial dysplasia
 * Odontotrichomelic syndrome
 * Oral-facial-digital syndrome, type 5
 * Osteopoikilosis - short stature - intellectual deficit
 * Palmoplantar keratoderma - amyotrophy
 * Paraplegia - intellectual deficit - hyperkeratosis
 * Pelviscapular dysplasia
 * Recurrent infections - short stature - hypopigmentation - coarse face
 * Rolled and spiral hairs - palmoplantar keratoderma
 * Severe achondroplasia - developmental delay - acanthosis nigricans
 * Short stature - webbed neck - heart disease
 * Simpson-Golabi-Behmel syndrome, type 2
 * Sparse hair - short stature - skin anomalies
 * Spastic paraplegia - nephritis - deafness
 * Spondylometaphyseal dysplasia with combined immunodeficiency
 * Syndactyly, type 4
 * Tomé-Brunet-Fardeau syndrome
 * Tricho-odonto-onychial dysplasia
 * Acromesomelic dysplasia brahimi bacha type
 * Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
 * Al-Gazali-Dattani syndrome
 * Amelia, autosomal recessive
 * Aniridia - absent patella
 * Aniridia - ptosis - intellectual deficit - obesity, familial form
 * Anonychia with flexural pigmentation
 * Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
 * Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
 * Aplasia cutis congenita - intestinal lymphangiectasia
 * Arachnodactyly - intellectual deficit - dysmorphism
 * AREDYLD syndrome
 * Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities
 * Blepharoptosis - myopia - ectopia lentis
 * Branchio-skeleto-genital syndrome
 * Buttiens-Fryns syndrome
 * Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
 * Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
 * Cataract - deafness - hypogonadism
 * Cervical hypertrichosis - peripheral neuropathy
 * CODAS syndrome
 * Cortical blindness - intellectual deficit - polydactyly
 * Craniofacial dysmorphism - coloboma - corpus callosum agenesis
 * Craniofacial-deafness-hand syndrome
 * Craniofrontonasal dysplasia - Poland anomaly
 * Craniosynostosis - intracranial calcifications
 * Cutaneous albinism, ermine phenotype
 * Cutaneous photosensitivity - colitis, lethal
 * Deafness - opticoacoustic nerve atrophy - dementia
 * Deafness-intellectual deficit, Martin-Probst type
 * Deafness-intellectual deficit, Martin-Probst type
 * Disorder of sex development - intellectual deficit
 * Ectodermal dysplasia, hypohidrotic - hypothyroidism - ciliary dyskinesia
 * Ectodermic dysplasia hypothyroidism cleft
 * Enterocyte heparan sulphate deficiency, congenital
 * Eyebrow duplication - syndactyly
 * Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
 * Faciocardiomelic dysplasia, lethal
 * Gardner-Morrison-Abbott syndrome
 * Glaucoma - ectopia - microspherophakia - stiff joints - short stature
 * Global developmental delay - osteopenia - ectodermal defect
 * Goodman syndrome
 * Hair defect - photosensitivity - intellectual deficit
 * Hemolytic anemia due to glutathione reductase deficiency
 * Hirschsprung disease - nail hypoplasia - dysmorphism
 * Hypogonadism - retinitis pigmentosa
 * Hypotonia with lactic acidemia and hyperammonemia
 * Intellectual deficit - hypoplastic corpus callosum - preauricular tag
 * Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
 * Intellectual deficit, X-linked - precocious puberty - obesity
 * Intellectual deficit, X-linked, Shrimpton type
 * Intellectual deficit, X-linked, Wilson type
 * Intellectual deficit, X-linked, Wittwer type
 * Intractable diarrhea - choanal atresia - eye anomalies
 * Lewis-Pashayan syndrome
 * Lipodystrophy - intellectual deficit - deafness
 * Lumbosacral vertebrae, posterior fusion of - blepharoptosis
 * Lymphedema - atrial septal defects - facial changes
 * Malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital
 * Microcephaly - brachydactyly - kyphoscoliosis
 * Microcephaly - cardiomyopathy
 * Microcephaly - cleft palate
 * Microcephaly - intellectual deficit - phalangeal and neurological anomalies
 * Microcytic anemia with liver iron overload
 * Microphthalmia - brain atrophy
 * Mitral regurgitation - deafness - skeletal anomalies
 * Mullerian derivatives - lymphangiectasia - polydactyly
 * N syndrome
 * Nail patella-like - renal disease
 * Nanism due to growth hormone qualitative anomaly
 * Neuroaxonal dystrophy - renal tubular acidosis
 * Oculoosteocutaneous syndrome
 * Omphalocele-cleft palate syndrome, lethal
 * Oral-facial-digital syndrome, type 3
 * Osteogenesis imperfecta, congenital - microcephaly - cataracts
 * Osteoporosis-oculocutaneous-hypopigmentation syndrome
 * Osteosclerosis - ichthyosis - premature ovarian failure
 * Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
 * Qazi-Markouizos syndrome
 * Rambaud-Galian syndrome
 * Seizures - intellectual deficit due to hydroxylysinuria
 * Sensorineural hearing loss, early greying, and essential tremor
 * SERKAL syndrome
 * Short stature - intellectual deficit - eye anomalies - cleft/lip palate
 * Split hand - urinary anomalies - spina bifida
 * Summitt syndrome
 * Thumb absent - short stature - immune deficiency
 * Thymic-renal-anal-lung dysplasia
 * Trigonocephaly - short stature - developmental delay
 * Ulbright-Hodes syndrome
 * 46,XX disorder of sex development - skeletal anomalies
 * Acrocraniofacial dysostosis
 * Acrofacial dysostosis, autosomal recessive
 * Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
 * Alar cartilages hypoplasia - coloboma - telecanthus
 * Alopecia - hypogonadism - extrapyramidal disorder
 * Amaurosis - hypertrichosis
 * Aniridia - renal agenesis - psychomotor retardation
 * Aniridia-intellectual deficit syndrome
 * Arthrogryposis - hyperkeratosis, lethal form
 * Atherosclerosis- deafness - diabetes - epilepsy - nephropathy
 * Aughton syndrome
 * Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
 * Auriculoocular anomalies - cleft lip
 * Bangstad syndrome
 * Beemer-Ertbruggen syndrome
 * Blepharo-facio-skeletal syndrome
 * Bouwes-Bavinck syndrome
 * Brachytelephalangy - dysmorphism - Kallmann syndrome
 * Braddock syndrome
 * Brain dysgenesis due to glutamine synthetase deficiency, congenital
 * Brain malformation - congenital heart disease - postaxial polydactyly
 * Camptodactyly syndrome, Guadalajara type 2
 * Cardiomyopathy - renal anomalies
 * Cataract - microphthalmia - septal defect
 * Cataract - nephropathy - encephalopathy
 * Cataract- ataxia - deafness
 * CDG syndrome, type IIe
 * CDG syndrome, type IIh
 * CDG syndrome, type IL
 * Chondrodysplasia - disorder of sex development
 * Choroidal atrophy - alopecia
 * Cleft lip - retinopathy
 * Cleft lip/palate - intellectual deficit - corneal opacities
 * Cleft palate - short stature - vertebral anomalies
 * Cleft palate - stapes fixation - oligodontia
 * Cleido rhizomelic syndrome
 * Contractures - ectodermal dysplasia - cleft lip/palate
 * Cooper-Jabs syndrome
 * Corneal anesthesia - deafness - intellectual deficit
 * Corneal-cerebellar syndrome
 * Craniodiaphyseal dysplasia, autosomal dominant
 * Craniosynostosis - fibular aplasia
 * Craniosynostosis-radial aplasia, Imaizumi type
 * Cryptomicrotia - brachydactyly - excess fingertip arch
 * Cystic hygroma, lethal - cleft palate
 * Dahlberg-Borer-Newcomer syndrome
 * Dandy-Walker malformation - macrocephaly
 * Dandy-Walker malformation - polydactyly, postaxial
 * Deaf blind hypopigmentation syndrome, Yemenite type
 * Deafness - genital anomalies - metacarpal and metatarsal synostosis
 * Deafness - vitiligo - achalasia
 * Deafness-tubular acidosis-anemia
 * Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
 * Dermato-cardio-skeletal syndrome, Borrone type
 * Dermatoleukodystrophy
 * Desmosterolosis
 * Developmental malformations - deafness - dystonia
 * Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
 * Dincsoy-Salih-Patel syndrome
 * Duane anomaly - myopathy - scoliosis
 * Dysmorphism - short stature - deafness - disorder of sex development
 * Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema
 * Ectodermal dysplasia - blindness
 * Eng-Strom syndrome
 * Epilepsy - microcephaly - skeletal dysplasia
 * Epithelio-exfoliative colitis - deafness
 * Fuqua-Berkovitz syndrome
 * Gamma aminobutyric acid transaminase deficiency
 * Gonadal dysgenesis, XY type - associated anomalies
 * Heart defects - limb shortening
 * HEC syndrome
 * Hemolytic anemia, lethal - genital anomalies
 * Hennekam-Beemer syndrome
 * Hersh-Podruch-Weisskopf syndrome
 * Hirschsprung disease - deafness - polydactyly
 * Hydrocephaly - tall stature - joint laxity
 * Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency
 * Hypomagnesemia with normocalciuria
 * Hypospadias-hypertelorism-coloboma and deafness
 * Hypotrichosis-intellectual deficit, Lopes type
 * Ichthyosis - hepatosplenomegaly - cerebellar degeneration
 * Ichthyosis - oral and digital anomalies
 * Ichthyosis congenita - biliary atresia
 * Ichthyosis, congenital - microcephalus - quadriplegia
 * Inappropriate antidiuretic hormone secretion syndrome
 * Intellectual deficit, severe - epilepsy - anal anomalies - distal phalangeal hypoplasia
 * Intellectual deficit, X-linked - acromegaly - hyperactivity
 * Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism
 * Intellectual deficit, X-linked - plagiocephaly
 * Intellectual deficit, X-linked, Cantagrel type
 * Intellectual deficit, X-linked, Reish type
 * Iris dysplasia - hypertelorism - deafness
 * Kaler-Garrity-Stern syndrome
 * Kapur-Toriello syndrome
 * Keratoderma - hypotrichosis - leukonychia
 * Kniest-like dysplasia, lethal form
 * Kozlowski-Brown-Hardwick syndrome
 * Kudo-Tamura-Fuse syndrome
 * Lichstenstein syndrome
 * Lissencephaly, type III - metacarpal bone dysplasia
 * Low birth weight - dwarfism - dysgammaglobulinemia
 * Lung fibrosis - immunodeficiency - gonadal dysgenesis
 * Macrocephaly - immune deficiency - anemia
 * Macrocephaly - short stature - paraplegia
 * Mesomelic dysplasia - skin dimples
 * Methylmalonic aciduria - microcephaly - cataract
 * Microbrachycephaly - ptosis - cleft lip
 * Microcephaly - digital anomalies - intellectual deficit
 * Microcephaly - glomerulonephritis - marfanoid habitus
 * Microcephaly - seizures - intellectual deficit - heart disease
 * Microlissencephaly - micromelia
 * Mitochondrial encephalomyopathy aminoacidopathy
 * Monosomy 9q22.3
 * Multiple sclerosis - ichthyosis - factor VIII deficiency
 * Nephronophtisis familial, adult form - spastic quadriparesia
 * Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
 * Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
 * Obesity due to prohormone convertase-I deficiency
 * Oculotrichodysplasia
 * Okamoto syndrome
 * Ossification anomalies - psychomotor development delay
 * Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
 * Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
 * PARC syndrome
 * Pierre Robin sequence - faciodigital anomaly
 * Pilodental dysplasia - refractive errors
 * Progressive neurodegeneration - joint laxity - cataract
 * Pseudoprogeria syndrome
 * Pterygium colli - intellectual deficit - digital anomalies
 * Ptosis - strabismus - rectus abdominis diastasis
 * Resistance to thyrotropin-releasing hormone syndrome
 * Robinow-like syndrome
 * Rudiger syndrome
 * Say-Barber-Miller syndrome
 * Scalp defects - postaxial polydactyly
 * SCARF syndrome
 * Short stature, Brussels type
 * Siegler-Brewer-Carey syndrome
 * Small vessel disease of the brain, not NOTCH3-related
 * Spastic paraplegia - precocious puberty
 * Spastic quadriplegia - retinitis pigmentosa - intellectual deficit
 * Spinal muscular atrophy - Dandy-Walker complex - cataracts
 * Stimmler syndrome
 * Stoll-Alembik-Finck syndrome
 * Syngnathia multiple anomalies
 * Talo-patello-scaphoid osteolysis
 * Teebi-Shaltout syndrome
 * Thrombocytopenia - Robin sequence
 * Thyrocerebrorenal syndrome
 * Trichomegaly - cataract - spherocytosis, hereditary
 * Trigonocephaly - bifid nose - acral anomalies
 * Trigonocephaly - broad thumbs
 * Tubular renal disease - cardiomyopathy
 * Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
 * Weaver-Williams syndrome
 * Xeroderma - talipes - enamel defects
 * Zellweger-like syndrome, without peroxisomal anomalies
 * Acrofacial dysostosis postaxial, atypical
 * Blaichman syndrome
 * Bone dysplasia, Azouz type
 * Cataract - hypertrichosis - intellectual deficit
 * CDG syndrome, type Ii
 * CDG syndrome, type IIb
 * CDG syndrome, type IId
 * CDG syndrome, type Ij
 * Chondrodysplasia - situs inversus - imperforate anus - polydactyly
 * Ectodermal dysplasia - arthrogryposis - diabetes mellitus
 * Hyaluronidase deficiency
 * Nevus of ota - retinitis pigmentosa
 * Oral-facial-digital syndrome, type 10
 * Stoll-Alembik-Finck syndrome
 * Zadik-Barak-Levin syndrome
 * Li-Fraumeni syndrome
 * Nance-Horan syndrome
 * Autosomal recessive limb-girdle muscular dystrophy, type 2l
 * Granulomatous arthritis of childhood
 * LCAT deficiency
 * Primary erythermalgia
 * Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
 * Pericarditis - arthropathy - camptodactyly
 * Phosphoribosylpyrophosphate synthetase superactivity
 * Giant axonal neuropathy
 * Multiple synostoses
 * Overhydrated hereditary stomatocytosis
 * Acro-renal-ocular syndrome
 * Autosomal dominant spastic paraplegia, type 17
 * Fahr syndrome
 * Familial platelet syndrome with predisposition to acute myelogenous leukemia
 * Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
 * Ichthyosis prematurity syndrome
 * X-linked myopathy with excessive autophagy
 * Familial platelet syndrome with predisposition to acute myelogenous leukemia
 * Marie Unna congenital hypotrichosis
 * Charcot-Marie-Tooth disease, type 4B1
 * Aniridia - cerebellar ataxia - mental deficiency
 * Brachydactyly - arterial hypertension
 * Aortic aneurysm syndrome, Loeys-Dietz type
 * Autosomal dominant spastic paraplegia, type 6
 * Benign familial neonatal-infantile seizures
 * Renpenning syndrome
 * Acheiropodia
 * Angioma neurocutaneous, hereditary
 * Autosomal dominant spastic paraplegia, type 10
 * Autosomal dominant spastic paraplegia, type 12
 * Autosomal dominant spastic paraplegia, type 13
 * Autosomal dominant spastic paraplegia, type 8
 * Autosomal recessive spastic paraplegia, type 15
 * Focal facial dermal dysplasia
 * Hypoparathyroidism, familial, isolated
 * Intellectual deficit, X-linked, syndromic, due to JARID1C mutation
 * Keratoderma palmoplantar - deafness
 * Keratosis palmoplantaris - esophageal carcinoma
 * Schinzel syndrome
 * Sebastian syndrome
 * VACTERL with hydrocephalus
 * Otodental syndrome
 * Ankyloblepharon - ectodermal defects - cleft lip palate
 * Cataract-microcornea syndrome
 * Osteosclerotic bone dysplasia, lethal
 * EEM syndrome
 * Immune dysregulation - polyendocrinopathy - enteropathy, X-linked
 * Macular degeneration, juvenile - hypotrichosis
 * Cystoid macular dystrophy
 * Developmental dysphasia familial
 * Excessive growth - learning disabilities - facial dysmorphism
 * Pontocerebellar hypoplasia type 1
 * Stapes ankylosis with broad thumbs and toes
 * Encephalopathy with neuroserpin inclusion bodies, familial form
 * Anemia, sideroblastic, X-linked - ataxia
 * Autosomal dominant limb-girdle muscular dystrophy, type 1D
 * Autosomal dominant limb-girdle muscular dystrophy, type 1E
 * Tetraamelia - pulmonary hypoplasia
 * Symphalangism, distal
 * Trichodental syndrome
 * Camptodactyly - taurinuria
 * IVIC syndrome
 * Paroxysmal extreme pain disorder
 * Reducing body myopathy
 * Triphalangeal thumbs - brachyectrodactyly
 * Adducted thumbs - arthrogryposis, Christian type
 * Ataxia, cerebellar, autosomal recessive - blindness - deafness
 * CAMFAK syndrome
 * Cataract-glaucoma
 * Cerebroretinal vasculopathy
 * Craniorhiny
 * Deafness-infertility syndrome
 * Dystonia, mixed
 * HERNS syndrome
 * Hypomagnesemia with hypocalciuria
 * Intellectual deficit, X-linked, with isolated growth hormone deficiency
 * Rapid-onset dystonia-parkinsonism
 * Ankyloblepharon filiforme - imperforate anus
 * Ataxia, episodic, type 4
 * Auriculoosteodysplasia
 * Autosomal dominant Charcot-Marie-Tooth disease, type 2F
 * Autosomal recessive spastic paraplegia, type 26
 * Autosomal recessive spastic paraplegia, type 27
 * Autosomal recessive spastic paraplegia, type 39
 * Bakrania-Ragge syndrome
 * Bencze syndrome
 * Blepharonasofacial malformation syndrome
 * Brachydactyly, type A5
 * Bullous dystrophy, macular type
 * Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
 * Chorioretinal atrophy, progressive bifocal
 * Earlobes, thickened - conductive deafness
 * Ehlers-Danlos syndrome, type 5
 * Gingival fibromatosis - progressive deafness
 * Growth deficiency - brachydactyly - dysmorphism
 * Hypoparathyroidism, X-linked
 * Jackson-Weiss syndrome
 * Mesoaxial synostotic syndactyly with phalangeal reduction
 * North Carolina macular dystrophy
 * Oral-facial-digital syndrome, type 8
 * Partington syndrome
 * Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
 * Skeletal dysplasia - intellectual deficit
 * Spastic paraplegia - glaucoma - intellectual deficit
 * Albinism-deafness syndrome
 * Alopecia - congenita keratosis palmoplantaris
 * Aphalangy - syndactyly - microcephaly
 * Arthrogryposis-like hand anomaly - sensorineural deafness
 * Ataxia, cerebellar, autosomal recessive - saccadic intrusion
 * Ataxia, episodic, type 3
 * Autosomal dominant Charcot-Marie-Tooth disease, type 2G
 * Autosomal dominant Charcot-Marie-Tooth disease, type 2K
 * Autosomal dominant Charcot-Marie-Tooth disease, type 2L
 * Autosomal dominant limb-girdle muscular dystrophy, type 1A
 * Autosomal dominant limb-girdle muscular dystrophy, type 1F
 * Autosomal dominant limb-girdle muscular dystrophy, type 1G
 * Autosomal dominant spastic paraplegia, type 29
 * Autosomal dominant spastic paraplegia, type 9
 * Autosomal recessive spastic paraplegia, type 14
 * Autosomal recessive spastic paraplegia, type 23
 * Autosomal recessive spastic paraplegia, type 24
 * Autosomal recessive spastic paraplegia, type 25
 * Autosomal recessive spastic paraplegia, type 28
 * Autosomal recessive spastic paraplegia, type 30
 * Banki syndrome
 * Brachydactyly - nystagmus - cerebellar ataxia
 * Brachydactyly, type A7
 * Camptobrachydactyly
 * Charcot-Marie-Tooth disease, type 2B2
 * Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
 * Costocoracoid ligament, congenitally short
 * Craniofacial conodysplasia
 * Craniosynostosis, Philadelphia type
 * Cyprus facial-neuromusculoskeletal syndrome
 * Dyschondrosteosis - nephritis
 * Ehlers-Danlos syndrome, type 10
 * Fried syndrome
 * Hereditary vascular retinopathy
 * Hereditary vascular retinopathy
 * Hydrocephalus - blue sclerae - nephropathy
 * Insulin resistance, short fifth metacarpals
 * Intellectual deficit - progressive spasticity, X-linked
 * Intellectual deficit, X-linked - Spastic paraplegia with iron deposits
 * Intellectual deficit, X-linked, Cabezas type
 * Intellectual deficit, X-linked, Pai type
 * Intellectual deficit, X-linked, recessive - macrocephaly - ciliary dysfunction
 * Kumar-Levick syndrome
 * Lipodystrophy, familial partial, due to AKT2 mutations
 * Microtia - eye coloboma - imperforation of the nasolacrimal duct
 * Neuropathy with hearing impairment
 * Oculodental syndrome, Rutherfurd type
 * Oculogastrointestinal muscular dystrophy
 * Pili torti - onychodysplasia
 * Ptosis - strabismus - ectopic pupils
 * Schizophrenia - intellectual deficit - deafness - retinitis
 * Short stature - pituitary and cerebellar defects - small sella turcica
 * Steroid dehydrogenase deficiency - dental anomalies
 * Tietz syndrome
 * Trichodysplasia - amelogenesis imperfecta
 * Ulnar/fibula ray defect - brachydactyly
 * Upington disease
 * Van den Bosch syndrome
 * Woolly hair - hypotrichosis - everted lower lip - outstanding ears
 * X-linked hereditary sensory and autonomic neuropathy with deafness
 * X-linked spastic paraplegia, type 16