split hand-foot malformation 1 with sensorineural hearing loss
split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21
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split hand-foot malformation 1 with sensorineural hearing loss
Summary
split hand-foot malformation 1 with sensorineural hearing loss is a head and neck disease[1].
Key Facts
- split hand-foot malformation 1 with sensorineural hearing loss's instance of is recorded as head and neck disease[2].
- split hand-foot malformation 1 with sensorineural hearing loss's instance of is recorded as developmental defect during embryogenesis[3].
- split hand-foot malformation 1 with sensorineural hearing loss's instance of is recorded as rare disease[4].
- split hand-foot malformation 1 with sensorineural hearing loss's instance of is recorded as class of disease[5].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as split hand-foot malformation[6].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as genetic deafness[7].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as syndromic genetic deafness[8].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as syndrome with limb reduction defects[9].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy[10].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as genetic disease[11].
- split hand-foot malformation 1 with sensorineural hearing loss's subclass of is recorded as autosomal recessive disease[12].
- split hand-foot malformation 1 with sensorineural hearing loss's OMIM ID is recorded as 220600[13].
- split hand-foot malformation 1 with sensorineural hearing loss's Disease Ontology ID is recorded as DOID:0090024[14].
- split hand-foot malformation 1 with sensorineural hearing loss's Orphanet ID is recorded as 71271[15].
- split hand-foot malformation 1 with sensorineural hearing loss's health specialty is recorded as medical genetics[16].
- split hand-foot malformation 1 with sensorineural hearing loss's genetic association is recorded as DLX5[17].
- split hand-foot malformation 1 with sensorineural hearing loss's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090024[18].
- split hand-foot malformation 1 with sensorineural hearing loss's exact match is recorded as http://identifiers.org/doid/DOID:0090024[19].
- split hand-foot malformation 1 with sensorineural hearing loss's UMLS CUI is recorded as C1857344[20].
- split hand-foot malformation 1 with sensorineural hearing loss's ICD-10-CM is recorded as Q87.2[21].
- split hand-foot malformation 1 with sensorineural hearing loss's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- split hand-foot malformation 1 with sensorineural hearing loss's Mondo ID is recorded as MONDO_0009080[23].
- split hand-foot malformation 1 with sensorineural hearing loss's UniProt disease ID is recorded as DI-03391[24].