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Oculootodental syndrome
1 OMIM reference -
2 associated genes
65 connected diseases
No signs/symptoms info
Disease Type of connection
Deafness with labyrinthine aplasia, microtia, and microdontia
FADD-related immunodeficiency
Otodental syndrome
Autoimmune lymphoproliferative syndrome
Young adult-onset Parkinsonism
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Pfeiffer syndrome type 1
Saethre-Chotzen syndrome
Giant cell glioblastoma
Gliosarcoma
Autoimmune lymphoproliferative syndrome with recurrent infections
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Intermittent hydrarthrosis
TRAPS syndrome
Squamous cell carcinoma of head and neck
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Apolipoprotein A-I deficiency
Tangier disease
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
X-linked hypohidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
Pseudohypoaldosteronism type 2E
Familial cortical myoclonus
Chronic mucocutaneous candidiasis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Hartsfield-Bixler-Demyer syndrome
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Isolated trigonocephaly
Kallmann syndrome
Muenke syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pediatric systemic lupus erythematosus
Pilocytic astrocytoma
Septo-optic dysplasia
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Synonym(s):
- OOD
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FADD Q13158602457
FGF3 P11487164950
No signs/symptoms info available.