ACHOO SYNDROME
|
(OMIM:100820)
|
ALCOHOL DEPENDENCE
|
(OMIM:103780)
|
ANDROSTENONE, ABILITY TO SMELL
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(OMIM:105570)
|
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
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(OMIM:206600)
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ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY
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(OMIM:108390)
|
Ankyloblepharon - ectodermal defects - cleft lip/palate
|
(Orphanet:1071)
|
Arthrogryposis multiplex congenita - whistling face
|
(Orphanet:1150)
|
CARDIAC ARRHYTHMIA
|
(OMIM:115000)
|
CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1
|
(OMIM:302650)
|
CEREBRAL ANGIOPATHY, DYSPHORIC
|
(OMIM:213500)
|
CERVICAL RIB
|
(OMIM:117900)
|
COGNITIVE FUNCTION 1, SOCIAL
|
(OMIM:300082)
|
Cochleosaccular degeneration - cataract
|
(Orphanet:3233)
|
Congenital intrinsic factor deficiency
|
(Orphanet:332)
|
Cystinuria
|
(Orphanet:214)
|
Cystinuria type A
|
(Orphanet:93612)
|
Cystinuria type B
|
(Orphanet:93613)
|
DISCRIMINATION, TWO-POINT, REDUCTION IN
|
(OMIM:126180)
|
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
|
(OMIM:304950)
|
Diabetic embryopathy
|
(Orphanet:1926)
|
Diastematomyelia
|
(Orphanet:1671)
|
Endomyocardial fibroelastosis
|
(Orphanet:2022)
|
GRANULOMAS, CONGENITAL CEREBRAL
|
(OMIM:306300)
|
Hereditary thrombophilia due to congenital protein C deficiency
|
(Orphanet:745)
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
|
(OMIM:601277)
|
Idiopathic hypereosinophilic syndrome
|
(Orphanet:3260)
|
Isolated polycystic liver disease
|
(Orphanet:2924)
|
JUMPING FRENCHMEN OF MAINE
|
(OMIM:244100)
|
KIFAFA SEIZURE DISORDER
|
(OMIM:245180)
|
MEDIAN-ULNAR NERVE COMMUNICATIONS
|
(OMIM:155150)
|
MERALGIA PARAESTHETICA, FAMILIAL
|
(OMIM:156220)
|
MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS
|
(OMIM:309840)
|
MOTION SICKNESS
|
(OMIM:158280)
|
MUSCULAR DYSTROPHY, SCAPULOHUMERAL
|
(OMIM:600416)
|
MYOPATHY, CONGENITAL
|
(OMIM:255300)
|
MYOPIA 2, AUTOSOMAL DOMINANT
|
(OMIM:160700)
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
Mucopolysaccharidosis type 2, severe form
|
(Orphanet:217085)
|
NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES
|
(OMIM:257000)
|
NOVELTY SEEKING PERSONALITY TRAITRISK-TAKING BEHAVIOR, INCLUDED
|
(OMIM:601696)
|
Osteogenesis imperfecta type 3
|
(Orphanet:216812)
|
PALMOMENTAL REFLEX
|
(OMIM:167700)
|
PERONEAL NERVE, ACCESSORY DEEP
|
(OMIM:170980)
|
Pelizaeus-Merzbacher disease
|
(Orphanet:702)
|
Pyruvate dehydrogenase E1-alpha deficiency
|
(Orphanet:79243)
|
Pyruvate dehydrogenase E1-beta deficiency
|
(Orphanet:255138)
|
RHEUMATOID ARTHRITIS
|
(OMIM:180300)
|
SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT
|
(OMIM:270220)
|
SPASTIC PSEUDOSCLEROSIS
|
(OMIM:270900)
|
SPATIAL VISUALIZATION, APTITUDE FOR
|
(OMIM:313000)
|
Senior-Loken syndrome 6
|
(OMIM:610189)
|
Spondyloepimetaphyseal dysplasia - abnormal dentition
|
(Orphanet:168451)
|
TARDIVE DYSKINESIA
|
(OMIM:272620)
|
THUMBS, CONGENITAL CLASPED
|
(OMIM:314100)
|
TRANSSEXUALITY
|
(OMIM:600952)
|
TRICARBOXYLIC ACID CYCLE, DEFECT OF
|
(OMIM:275370)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|
VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE
|
(OMIM:193005)
|
Wilson disease
|
(Orphanet:905)
|
Wolfram syndrome 1
|
(OMIM:222300)
|