At a Glance
Otitis media, susceptibility to;
ABCD syndrome;
Abortive cerebellar ataxia
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Otitis media, susceptibility to
ABCD syndrome
Abortive cerebellar ataxia
Achondrogenesis type II
Achondroplasia
Albinism, ocular, with sensorineural deafness
Alport syndrome 1, X-linked recessive
Alport syndrome 3, autosomal dominant
Alport syndrome, autosomal recessive
Alstrom syndrome
Alternating hemiplegia of childhood 2
Alveolar rhabdomyosarcoma
Arts syndrome
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Atrial fibrillation, familial, 3
Atrophia bulborum hereditaria
Auditory neuropathy, autosomal dominant, 1
Auditory neuropathy-optic atrophy syndrome
Aural atresia, congenital
Autosomal dominant nonsyndromic deafness 17
Autosomal dominant nonsyndromic deafness 22
Autosomal dominant nonsyndromic deafness 2A
Autosomal dominant nonsyndromic deafness 6
Autosomal dominant optic atrophy classic form
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome
Avascular necrosis of femoral head, primary, 1
Baraitser-Winter Syndrome 2
Baraitser-Winter syndrome 1
Bartter disease type 4a
Benign familial hematuria
Bifunctional peroxisomal enzyme deficiency
Bone mineral density quantitative trait locus 18
Brachydactyly type B2
Branchiootic syndrome 1
Branchiootic syndrome 3
Branchiootorenal Syndrome 1
Branchiootorenal syndrome 2
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
CHARGE association
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carcinoma of cervix
Cataract 41
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Charcot-Marie-Tooth disease, X-linked recessive, type 5
Charcot-Marie-Tooth disease, axonal, type 2w
Charcot-Marie-Tooth disease, recessive intermediate B
Chronic infantile neurological, cutaneous and articular syndrome
Chudley-McCullough syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colorectal cancer
Combined oxidative phosphorylation deficiency 13
Combined oxidative phosphorylation deficiency 24
Combined oxidative phosphorylation deficiency 30
Combined oxidative phosphorylation deficiency 36
Combined oxidative phosphorylation deficiency 6
Cone-rod dystrophy and hearing loss
Cone-rod dystrophy and hearing loss 2
Congenital central hypoventilation
Conotruncal heart malformations
Corneal dystrophy, posterior polymorphous 4
Cowchock syndrome
Coxa plana
Craniofacial-deafness-hand syndrome
Crouzon syndrome with acanthosis nigricans
Cutaneous malignant melanoma 8
Czech dysplasia, metatarsal type
DOORS syndrome
Deafness and myopia
Deafness dystonia syndrome
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Deafness, X-linked 1
Deafness, X-linked 2
Deafness, X-linked 4
Deafness, X-linked 5
Deafness, X-linked 6
Deafness, autosomal dominant 1
Deafness, autosomal dominant 10
Deafness, autosomal dominant 11
Deafness, autosomal dominant 12
Deafness, autosomal dominant 13
Deafness, autosomal dominant 15
Deafness, autosomal dominant 20
Deafness, autosomal dominant 23
Deafness, autosomal dominant 25
Deafness, autosomal dominant 28
Deafness, autosomal dominant 2b
Deafness, autosomal dominant 34, with or without inflammation
Deafness, autosomal dominant 36
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Deafness, autosomal dominant 3a
Deafness, autosomal dominant 3b
Deafness, autosomal dominant 4
Deafness, autosomal dominant 40
Deafness, autosomal dominant 41
Deafness, autosomal dominant 44
Deafness, autosomal dominant 4b
Deafness, autosomal dominant 5
Deafness, autosomal dominant 50
Deafness, autosomal dominant 56
Deafness, autosomal dominant 64
Deafness, autosomal dominant 65
Deafness, autosomal dominant 66
Deafness, autosomal dominant 67
Deafness, autosomal dominant 68
Deafness, autosomal dominant 69
Deafness, autosomal dominant 70
Deafness, autosomal dominant 71
Deafness, autosomal dominant 72
Deafness, autosomal dominant 73
Deafness, autosomal dominant 74
Deafness, autosomal dominant 9
Deafness, autosomal recessive 101
Deafness, autosomal recessive 102
Deafness, autosomal recessive 103
Deafness, autosomal recessive 104
Deafness, autosomal recessive 106
Deafness, autosomal recessive 107
Deafness, autosomal recessive 108
Deafness, autosomal recessive 110
Deafness, autosomal recessive 111
Deafness, autosomal recessive 112
Deafness, autosomal recessive 115
Deafness, autosomal recessive 12
Deafness, autosomal recessive 15
Deafness, autosomal recessive 16
Deafness, autosomal recessive 18
Deafness, autosomal recessive 18b
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 1b
Deafness, autosomal recessive 2
Deafness, autosomal recessive 21
Deafness, autosomal recessive 22
Deafness, autosomal recessive 23
Deafness, autosomal recessive 24
Deafness, autosomal recessive 25
Deafness, autosomal recessive 28
Deafness, autosomal recessive 29
Deafness, autosomal recessive 3
Deafness, autosomal recessive 30
Deafness, autosomal recessive 31
Deafness, autosomal recessive 32
Deafness, autosomal recessive 35
Deafness, autosomal recessive 36, with or without vestibular involvement
Deafness, autosomal recessive 37
Deafness, autosomal recessive 39
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Deafness, autosomal recessive 42
Deafness, autosomal recessive 44
Deafness, autosomal recessive 48
Deafness, autosomal recessive 49
Deafness, autosomal recessive 53
Deafness, autosomal recessive 57
Deafness, autosomal recessive 59
Deafness, autosomal recessive 6
Deafness, autosomal recessive 61
Deafness, autosomal recessive 63
Deafness, autosomal recessive 66
Deafness, autosomal recessive 67
Deafness, autosomal recessive 68
Deafness, autosomal recessive 7
Deafness, autosomal recessive 70
Deafness, autosomal recessive 74
Deafness, autosomal recessive 76
Deafness, autosomal recessive 77
Deafness, autosomal recessive 79
Deafness, autosomal recessive 8
Deafness, autosomal recessive 84
Deafness, autosomal recessive 84b
Deafness, autosomal recessive 86
Deafness, autosomal recessive 88
Deafness, autosomal recessive 89
Deafness, autosomal recessive 9
Deafness, autosomal recessive 91
Deafness, autosomal recessive 93
Deafness, autosomal recessive 97
Deafness, autosomal recessive 98
Denticles
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Developmental delay with or without dysmorphic facies and autism
Developmental malformations-deafness-dystonia syndrome
DiGeorge Syndrome
Dilated cardiomyopathy 1J
Duane retraction syndrome 3 with or without deafness
Dystonia 12
EAST syndrome
Early infantile epileptic encephalopathy 16
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ectodermal dysplasia/short stature syndrome
Ehlers-Danlos syndrome, arthrochalasia type, 1
Epidermal nevus
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Erythrokeratodermia variabilis et progressiva 1
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Familial exudative vitreoretinopathy, X-linked
Familial progressive hyperpigmentation with or without hypopigmentation
Febrile seizures, familial, 4
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Fibromatosis, gingival, 5
GRACILE syndrome
Glaucoma, normal tension, susceptibility to
Heimler syndrome 1
Heimler syndrome 2
Hepatocellular carcinoma
Hereditary hearing loss and deafness
Hidrotic ectodermal dysplasia syndrome
Hirschsprung disease 2
Hirschsprung disease 4
Hydrops, lactic acidosis, and sideroblastic anemia
Hypercholanemia, familial
Hypochondroplasia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypoparathyroidism, deafness, renal disease syndrome
Hystrix-like ichthyosis with deafness
Infantile cortical hyperostosis
Infantile onset spinocerebellar ataxia
Intervertebral disc disorder
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 2
Keratitis fugax hereditaria
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
Kniest dysplasia
Knuckle pads, deafness AND leukonychia syndrome
Leber congenital amaurosis with early-onset deafness
Left ventricular noncompaction 1
Leigh syndrome
Leukodystrophy, hypomyelinating, 11
Levy-Hollister syndrome
Lichtenstein-knorr syndrome
Long QT syndrome 1
Long QT syndrome 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Malignant tumor of testis
Malignant tumor of urinary bladder
Marshall syndrome
Microtia, hearing impairment, and cleft palate
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial complex III deficiency, nuclear type 1
Muenke syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multiple epiphyseal dysplasia 6
Mutilating keratoderma
Myoclonic epilepsy, familial infantile
Namaqualand hip dysplasia
Nephronophthisis 19
Optic atrophy 7
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Osteofibrous dysplasia
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, recessive perinatal lethal
Otofaciocervical syndrome 1
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Palmoplantar keratoderma-deafness syndrome
Partial albinism
Pendred syndrome
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
Perrault syndrome 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Phosphoribosylpyrophosphate synthetase superactivity
Pili torti-deafness syndrome
Pituitary adenoma 5, multiple types
Platyspondylic dysplasia, Torrance type
Polyendocrine-polyneuropathy syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Postmenopausal osteoporosis
Primary aldosteronism, seizures, and neurologic abnormalities
Progressive bulbar palsy of childhood
Progressive familial intrahepatic cholestasis 4
Pseudoxanthoma elasticum
Renal cell carcinoma
Renal hypodysplasia/aplasia 3
Renal tubular acidosis with progressive nerve deafness
Retinitis pigmentosa 39
Retinitis pigmentosa 61
Retinitis pigmentosa 77
Rheumatoid arthritis
Sclerosing cholangitis, neonatal
Seizures, cortical blindness, and microcephaly syndrome
Severe achondroplasia with developmental delay and acanthosis nigricans
Short QT syndrome 2
Sinoatrial node dysfunction and deafness
Skin/hair/eye pigmentation, variation in, 7
Smith-Magenis syndrome
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, stanescu type
Spondyloocular syndrome, autosomal recessive
Spondyloperipheral dysplasia-short ulna syndrome
Stapes ankylosis with broad thumb and toes
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Symphalangism, proximal, 1A
Symphalangism-brachydactyly syndrome
Tarsal-carpal coalition syndrome
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Tietz syndrome
Treacher Collins syndrome 1
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Type 2 diabetes mellitus
Usher Syndrome, Type III
Usher syndrome type 1
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome, type 1C
Usher syndrome, type 1G
Usher syndrome, type 1J
Usher syndrome, type 2A
Usher syndrome, type 2C
Usher syndrome, type 2D
Usher syndrome, type 3B
Usher syndrome, type 4
Velocardiofacial syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Waardenburg syndrome type 2D
Waardenburg syndrome type 2E
Waardenburg syndrome type 3
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Wilms tumor 6
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome, autosomal dominant
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Zellweger syndrome
A2ML1 (12p13.31);
ABHD12 (20p11.21);
ACTB (7p22.1);
ACTG1 (17q25.3);
ADCY1 (7p12.3)
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Conditions
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Total conditions: 350
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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