| children | - Absence of fingerprints with congenital milia syndrome 719595002
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome 718715007
- Ackerman syndrome 722280000
- Adams-Oliver syndrome 34748004
- ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome 720464003
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- AGel amyloidosis 783160006
- AKT2-related familial partial lipodystrophy 1197746001
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections 239050000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome 720980004
- Amaurosis hypertrichosis syndrome 720983002
- Amelo-onycho-hypohidrotic syndrome 715404000
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome 720986005
- Anonychia with microcephaly syndrome 720494009
- Aplasia cutis congenita with epibulbar dermoid syndrome 723554006
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome 720500008
- Aplasia cutis with myopia syndrome 720499004
- Arthrogryposis and ectodermal dysplasia syndrome 786039009
- Autosomal dominant familial wooly hair 403794008
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome 7731005
- Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome 1187115008
- Autosomal recessive familial wooly hair 403795009
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 27025001
- Autosomal recessive nail dysplasia 782878007
- Autosomal recessive popliteal pterygium syndrome 722376008
- Autosomal semi-dominant severe lipodystrophic laminopathy 1197747005
- B-K mole (nevus) syndrome 254819008
- Bamforth Lazarus syndrome 722375007
- Birt Hogg Dubé syndrome 1263460007
- Blepharocheilodontic syndrome 717911008
- Book syndrome 722296002
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brooke-Spiegler syndrome 703531009
- Bullous dystrophy macular type 725589005
- CAMOS syndrome 726031001
- Capillary malformation-arteriovenous malformation syndrome 703533007
- Carney complex 733491005
- Cerebellar ataxia and ectodermal dysplasia 715371006
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- Chondrodysplasia punctata, X-linked dominant type 398958000
- CIDEC-related familial partial lipodystrophy 1197749008
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation 1279834007
- Congenital isolated onychodysplasia 1254893000
- Congenital lethal erythroderma 722391005
- Contracture with ectodermal dysplasia and orofacial cleft syndrome 720746006
- Cooks syndrome 720747002
- Crouzon syndrome with acanthosis nigricans 702361006
- Curry-Hall syndrome 277807007
- Cutaneous photosensitivity and lethal colitis syndrome 720820000
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Deafness, vitiligo, achalasia syndrome 733069009
- Deficiency of interleukin 36 receptor antagonist 784339002
- Dermatoleukodystrophy 733044009
- Dermatoosteolysis Kirghizian type 721090002
- Dermo-odonto dysplasia 721091003
- Distichiasis-lymphedema syndrome 8634009
- Dyskeratosis congenita 74911008
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ectodermal dysplasia syndactyly syndrome 771335004
- Ectodermal dysplasia trichoodontoonychial type 734018003
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
- Ectodermal dysplasia with natal teeth Turnpenny type 715576000
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Ehlers-Danlos and osteogenesis imperfecta syndrome 733457006
- Ehlers-Danlos syndrome 398114001
- Epidermodysplasia verruciformis 19138001
- Epidermolysis bullosa 61003004
- Erythema palmare hereditarium 763767006
- Exostosis, anetoderma, brachydactyly type E syndrome 733416004
- Fabry's disease 16652001
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome 782949007
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Familial acantholysis 77759009
- Familial amyloid nephropathy with urticaria AND deafness 15123008
- Familial angiolipomatosis 774066000
- Familial chilblain lupus erythematosus 1220590003
- Familial cold urticaria 238687000
- Familial cutaneous collagenoma 239139000
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 782823001
- Familial dyskeratotic comedones 254219004
- Familial isolated trichomegaly 764523004
- Familial lichen amyloidosis 237870002
- Familial malignant melanoma of skin 726019003
- Familial multiple discoid fibroma 1222705009
- Familial multiple fibrofolliculoma 723361006 removed: 2020-01-31
- Familial partial lipodystrophy Dunnigan type 715439000
- Familial partial lipodystrophy Kobberling type 725035001
- Familial porphyria cutanea tarda 59229005
- Familial progressive hyper and hypopigmentation 763368004
- Focal dermal hypoplasia 205573006
- Focal facial dermal dysplasia type I 789157007
- Focal facial dermal dysplasia type II 789159005
- Focal facial dermal dysplasia type IV 789161001
- Follicular atrophoderma and basal cell epitheliomata 254820002
- Follicular hamartoma with alopecia and cystic fibrosis syndrome 716088000
- Francois syndrome 254150007
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- GAPO syndrome 721843003
- Gastrocutaneous syndrome 782946000
- Generalized basaloid follicular hamartoma syndrome 766928004
- Generalized congenital lipodystrophy with myopathy 1156814008
- Gingival fibromatosis and hypertrichosis syndrome 716008002
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- Glomuvenous malformation 715644000
- Gorlin syndrome 69408002
- Granulomatous inflammatory arthritis, dermatitis and uveitis, familial 699861000
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- HELIX syndrome 1217380005
- Hennekam Beemer syndrome 722453009
- Hereditary acrodermatitis enteropathica 37702000
- Hereditary anetoderma 733467001
- Hereditary benign intraepithelial dyskeratosis 400014002
- Hereditary clubbing 239055005
- Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome 733469003
- Hereditary distal onycholysis 1254945005
- Hereditary hypermelanosis 403804008
- Hereditary hypotrichosis simplex 723362004
- Hereditary hypotrichosis with recurrent skin vesicles syndrome 724350009
- Hereditary keratoacanthoma 716774008
- Hereditary leiomyomatosis and renal cell carcinoma 1162799008
- Hereditary lymphedema and yellow nails 400211001
- Hereditary neurocutaneous angiomata 403775003
- Hereditary palmoplantar keratoderma 239066003
- Hereditary progressive mucinous histiocytosis 771300001
- Hereditary sclerosing poikiloderma 238834002
- Hereditary skin fragility 724851004
- Hereditary striate leuconychia 278523002
- Heredofamilial systemic amyloidosis affecting skin 402459005
- Hidrotic ectodermal dysplasia Christianson Fourie type 771239007
- Hidrotic ectodermal dysplasia Halal type 721147000
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Histiocytosis-lymphadenopathy plus syndrome 711159002
- Hypertrichosis and acromegaloid facial appearance syndrome 721837000 removed: 2022-06-30
- Hypertrichosis cubiti 771181009
- Hypodontia and nail dysgenesis 239021007
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypohidrosis due to genetic abnormality of eccrine gland structure and function 723001002
- Hypohidrotic X-linked ectodermal dysplasia 239007005
- Hypotrichosis and intellectual disability syndrome Lopes type 723365002
- Hypotrichosis with juvenile macular degeneration syndrome 723364003
- Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 723363009
- Incontinentia pigmenti syndrome 367520004
- Infantile systemic hyalinosis 238867003
- Inherited cutaneous hyperpigmentation 239079007
- Inherited cutis laxa 254220005
- Inherited deformity of nail 402776008
- Inherited disorder of keratinization 254214009
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Isolated anterior cervical hypertrichosis 717963001
- Isolated congenital adermatoglyphia 763748007
- Isolated generalized anhidrosis with normal sweat glands 1187178004
- Johnson neuroectodermal syndrome 721584005
- Joubert syndrome with orofaciodigital defect 721873007
- Juvenile hyaline fibromatosis 238861002
- Kohlschutter's syndrome 109478007
- LAMA5-related multisystemic syndrome 1217370006
- Legius syndrome 703541007
- Limb mammary syndrome 721972001
- LIPE-related familial partial lipodystrophy 1197751007
- Lipid proteinosis 38692000
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lymphedema hypoparathyroidism syndrome 721083007
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Male emopamil-binding protein disorder with neurological defect 782739000
- Mammary digital nail syndrome 718679004
- Mandibuloacral dysostosis 109419009
- Marie Unna syndrome 254234005
- Melanoma and neural system tumor syndrome 717968005
- Menkes kinky-hair syndrome 59178007
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome 1172683008
- Microphthalmia with linear skin defect syndrome 721879006
- Mohr syndrome 1779005
- Multiple lentigines syndrome 111306001
- Multiple pterygium syndrome 205819008
- Multiple self-healing epithelioma of Ferguson-Smith 254659009
- Nail-patella syndrome 22199006
- Neonatal inflammatory skin and bowel disease 773662009
- Neonatal purpura fulminans due to homozygous protein C deficiency 402851000
- Neuroectodermal melanolysosomal disease 724091002
- Neurofibromatosis type 1 92824003
- Neurofibromatosis type 6 1208340009
- Non-androgenic hypertrichosis with genetic disease 733203002
- Noonan syndrome-like disorder with loose anagen hair 723444009
- Oculocerebral hypopigmentation syndrome of Preus type 716174001
- Oculocutaneous albinism 63844009
- Oculoosteocutaneous syndrome 722061006
- Oculotrichodysplasia 722062004
- Odonto-tricho-ungual-digito-palmar syndrome 722063009
- Odontotrichomelic syndrome 239028001
- Oliver McFarlane syndrome 719944006
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 8 722106001
- Oro-facial digital syndrome type 9 718680001
- Orofacial-digital syndrome III 239030004
- Orofacial-digital syndrome IV 239031000
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001
- Oto-onycho-peroneal syndrome 441944007
- Pachydermoperiostosis syndrome 88220006
- Parana hard skin syndrome 783013001
- Perilipin 1 related familial partial lipodystrophy 783616005
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Perniola Krajewska Carnevale syndrome 716191002
- Peutz-Jeghers syndrome 54411001
- Phylloid hypomelanosis 403807001
- Piebald trait with neurologic defects syndrome 773984007
- Piebaldism 718122005
- Pili torti onychodysplasia syndrome 723451000
- Pili torti-deafness syndrome 67817003
- Pilodental dysplasia, refractive errors syndrome 771240009
- Poikiloderma with neutropenia 772126000
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Poikilodermal cutaneous amyloid 237872005
- PPARG-related familial partial lipodystrophy 1197745002
- Premature aging syndrome 399959003
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Progeria syndrome 190590004 removed: 2003-07-31
- Proteus syndrome 23150001
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 1220599002
- PTEN hamartoma tumor syndrome 722859001
- Pterygium colli with intellectual disability and digital anomaly syndrome 719256004
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 724015007
- Recessive aplasia cutis congenita of limbs 723500009
- Reticulate acropigmentation of Kitamura 239133004
- Rombo syndrome 721904001
- Rothmund-Thomson syndrome 69093006
- Scalp, ear, nipple syndrome 721888002
- Schinzel-Giedion syndrome 18899000
- Scholte syndrome 722002002
- Seborrhea-like dermatitis with psoriasiform elements 782910009
- Sensorineural hearing loss, early graying, essential tremor syndrome 723721007
- Severe achondrolasia with developmental delay and acanthosis nigricans 699870002 removed: 2021-01-31
- Severe achondroplasia, developmental delay, acanthosis nigricans syndrome 874931001
- Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe neurodegenerative syndrome with lipodystrophy 773555005
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome 720345008
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Sparse hair with short stature and skin anomaly syndrome 719211006 removed: 2021-01-31
- Split-foot malformation, mesoaxial polydactyly syndrome 1172635005
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008
- Steatocystoma multiplex 109433009
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Stern Lubinsky Durrie syndrome 723584003
- Taurodontia with absent teeth and sparse hair syndrome 719945007
- Teebi Shaltout syndrome 771265006
- Temple Baraitser syndrome 725140007
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Trichodysplasia with amelogenesis imperfecta syndrome 719911000
- Trichodysplasia xeroderma syndrome 766812005
- Trichoodontoonychial dysplasia 766813000
- Trichothiodystrophy 723551003
- Tuberous sclerosis syndrome 7199000
- Ultraviolet sensitive syndrome 698253007
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004
- Upshaw-Schulman syndrome 373420004
- Van den Bosch syndrome 733110004
- Vici syndrome 719824001
- Von Hippel-Lindau syndrome 46659004
- Waardenburg Shah syndrome 715952000
- Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome 1186725001
- White forelock with malformations syndrome 763619009
- Wiedemann Steiner syndrome 763618001
- Woodhouse Sakati syndrome 816067005
- X-linked congenital generalized hypertrichosis 1010628009
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006
- X-linked reticulate pigmentary disorder with systemic manifestation syndrome 717224002
- Xeroderma pigmentosum 44600005
- XTE syndrome 7037003
- Zlotogora Ogur syndrome 716248001
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