APOCRINE GLAND SECRETION, VARIATION IN
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(OMIM:117800)
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AREDYLD syndrome
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(Orphanet:1133)
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Aase-Smith syndrome
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(Orphanet:916)
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Acrocraniofacial dysostosis
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(Orphanet:949)
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Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
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(Orphanet:52055)
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Alkaptonuria
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(Orphanet:56)
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Alopecia - epilepsy - pyorrhea - intellectual deficit
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(Orphanet:1008)
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Aniridia - cerebellar ataxia - intellectual deficit
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(Orphanet:1065)
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Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
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(Orphanet:1101)
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Arachnoiditis
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(Orphanet:137817)
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Arthrogryposis multiplex congenita - whistling face
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(Orphanet:1150)
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Atrioventricular defect - blepharophimosis -radial defects
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(Orphanet:1352)
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Autosomal recessive multiple pterygium syndrome
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(Orphanet:2990)
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BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
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(OMIM:211200)
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Barber-Say syndrome
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(Orphanet:1231)
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Beckwith-Wiedemann syndrome
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(Orphanet:116)
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Blau syndrome
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(Orphanet:90340)
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Bone dysplasia, lethal Holmgren type
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(Orphanet:1842)
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CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME
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(OMIM:600257)
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CONE-ROD DYSTROPHY 1
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(OMIM:600624)
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Cleidocranial dysplasia
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(Orphanet:1452)
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Crossed polysyndactyly
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(Orphanet:2935)
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Cutis gyrata - acanthosis nigricans - craniosynostosis
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(Orphanet:1555)
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DARWINIAN TUBERCLE OF PINNA
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(OMIM:124300)
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DARWINIAN TUBERCLE OF PINNA
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(OMIM:124400)
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DEND syndrome
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(Orphanet:79134)
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Dislocation of the hip - dysmorphism
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(Orphanet:2412)
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Distal monosomy 10p
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(Orphanet:1580)
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EAR ANTITRAGUS, TAG AT BASE OF
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(OMIM:128290)
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EAR FLARE
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(OMIM:128400)
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EAR FOLDING
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(OMIM:128500)
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EAR MALFORMATION
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(OMIM:128600)
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EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED
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(OMIM:128900)
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EARS, ABILITY TO MOVE
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(OMIM:129100)
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ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
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(OMIM:600906)
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EXCHONDROSIS OF PINNA, POSTERIOR
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(OMIM:133500)
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Ectodermal dysplasia syndrome
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(Orphanet:79373)
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Ectrodactyly - spina bifida - cardiopathy
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(Orphanet:1894)
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FANCONI ANEMIA, COMPLEMENTATION GROUP A
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(OMIM:227650)
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FANCONI ANEMIA, COMPLEMENTATION GROUP C
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(OMIM:227645)
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FANCONI ANEMIA, COMPLEMENTATION GROUP D2
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(OMIM:227646)
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Fanconi anemia
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(Orphanet:84)
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Fetal hydantoin syndrome
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(Orphanet:1912)
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Fibrochondrogenesis
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(Orphanet:2021)
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Focal dermal hypoplasia
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(Orphanet:2092)
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Fried syndrome
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(Orphanet:85335)
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German syndrome
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(Orphanet:2077)
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Gorlin syndrome
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(Orphanet:377)
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HAIRY EARS, Y-LINKED
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(OMIM:425500)
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Harlequin ichthyosis
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(Orphanet:457)
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Hepatic fibrosis - renal cysts - intellectual deficit
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(Orphanet:2031)
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Hidrotic ectodermal dysplasia, Halal type
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(Orphanet:1809)
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Hirschsprung disease - nail hypoplasia - dysmorphism
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(Orphanet:2153)
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Hirsutism - skeletal dysplasia - intellectual deficit
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(Orphanet:2156)
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Hypoplasminogenemia
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(Orphanet:722)
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Incontinentia pigmenti
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(Orphanet:464)
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Intellectual deficit, X-linked, Abidi type
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(Orphanet:85273)
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Ito hypomelanosis
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(Orphanet:435)
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Leprechaunism
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(Orphanet:508)
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Lethal recessive chondrodysplasia
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(Orphanet:1423)
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Leukocyte adhesion deficiency
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(Orphanet:2968)
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Long QT syndrome 1
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(OMIM:192500)
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MUSICAL PERFECT PITCH
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(OMIM:159300)
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McCune-Albright syndrome
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(Orphanet:562)
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Microbrachycephaly - ptosis - cleft lip
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(Orphanet:2511)
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Microphthalmia with linear skin defects syndrome
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(Orphanet:2556)
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Microtia
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(Orphanet:83463)
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Mosaic variegated aneuploidy syndrome
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(Orphanet:1052)
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Mucolipidosis type 3
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(Orphanet:577)
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Multiple carboxylase deficiency
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(Orphanet:148)
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Multiple epiphyseal dysplasia type 4
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(Orphanet:93307)
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N syndrome
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(Orphanet:2608)
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Neuroectodermal syndrome, Johnson type
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(Orphanet:2316)
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Neurofibromatosis type 1
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(Orphanet:636)
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Nijmegen breakage syndrome
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(Orphanet:647)
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Noonan syndrome with multiple lentigines
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(Orphanet:500)
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OSSIFIED EAR CARTILAGES
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(OMIM:165670)
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OSTEOMA OF MIDDLE EAR
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(OMIM:259650)
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OTOONYCHOPERONEAL SYNDROME
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(OMIM:259780)
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Oculofaciocardiodental syndrome
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(Orphanet:2712)
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Orofaciodigital syndrome type 8
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(Orphanet:2755)
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Patterson-Stevenson-Fontaine syndrome
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(Orphanet:2439)
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Permanent neonatal diabetes mellitus
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(Orphanet:99885)
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Piebaldism
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(Orphanet:2884)
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Pilotto syndrome
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(Orphanet:2894)
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Prolidase deficiency
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(Orphanet:742)
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Radio-ulnar synostosis - intellectual deficit - hypotonia
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(Orphanet:3270)
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Refsum disease
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(Orphanet:773)
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Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
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(Orphanet:3085)
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Sheldon-Hall syndrome
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(Orphanet:1147)
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Sialidosis type 2
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(Orphanet:87876)
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Sturge-Weber syndrome
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(Orphanet:3205)
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Torg-Winchester syndrome
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(Orphanet:3460)
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Toriello-Lacassie-Droste syndrome
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(Orphanet:3339)
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VELOCARDIOFACIAL SYNDROME
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(OMIM:192430)
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WAGR syndrome
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(Orphanet:893)
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Waardenburg syndrome type 1
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(Orphanet:894)
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Zlotogora-Ogur syndrome
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(Orphanet:3253)
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