| Disease Browser
|
Parent Node:
 Cleft Palate (D002972) | Parent Node:
Congenital Microtia (D065817) | Parent Node:
Hearing Loss (D034381) | ..Starting node
.. Microtia, Hearing Impairment, And Cleft Palate (C567359)
|
Child Nodes:
|
Sister Nodes: | ..Abidi X-linked mental retardation syndrome (C535556)
| ..Behr syndrome (C537669)
| ..Branchial arch syndrome X-linked (C537102)
| ..CATSHL syndrome (C537975)
| ..Chromosome 6pter-P24 Deletion Syndrome (C567239)
| ..Deafness (D003638)  108
| ..Deafness with Anhidrotic Ectodermal Dysplasia (C565119)
| ..Deafness, Autosomal Dominant, Due To Mutation In Myo1a (C567266)
| ..Deafness, Autosomal Recessive 36, Without Vestibular Involvement (C567219)
| ..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
| ..Deafness, Unilateral, With Delayed Endolymphatic Hydrops (C567420)
| ..Deafness-Craniofacial Syndrome (C565118)
| ..Hearing Loss, Bilateral (D006312) 5
| ..HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO (OMIM:613290)
| ..Hearing Loss, Conductive (D006314) 21
| ..Hearing Loss, Functional (D006315)
| ..Hearing Loss, High-Frequency (D006316)
| ..Hearing Loss, Mixed Conductive-Sensorineural (D046089) 3
| ..Hearing Loss, Sensorineural (D006319) 252
| ..Hearing Loss, Sudden (D003639)
| ..Hearing Loss, Unilateral (D046088) 1
| ..Iris dysplasia hypertelorism deafness (C535537)
| ..Lacrimoauriculodentodigital syndrome (C538132)
| ..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
| ..Microtia, Hearing Impairment, And Cleft Palate (C567359)
| ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
| ..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
| ..Reardon Wilson Cavanagh syndrome (C535295)
| ..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 7257 |
| Name: | Microtia, Hearing Impairment, And Cleft Palate |
| Definition: | |
| Alternative IDs: | OMIM:612290 |
| ParentIDs: | MESH:D002972|MESH:D034381|MESH:D065817 |
| TreeNumbers: | C05.500.460.185/C567359 |C05.660.207.540.460.185/C567359 |C07.320.440.185/C567359 |C07.465.525.185/C567359 |C07.650.500.460.185/C567359 |C07.650.525.185/C567359 |C09.218.235/C567359 |C09.218.458.341/C567359 |C10.597.751.418.341/C567359 |C16.131.287/C567359 |C16.13 |
| Synonyms: | MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C567359
MeSH: C567359
OMIM: 612290;
Genes: HOXA2; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_006735.3(HOXA2):c.703C>T (p.Gln235Ter) | 3199 | HOXA2 | Pathogenic | 398122360 | RCV000074433; | N | MedGen:C2676772,OMIM:612290,ORPHA:140963 | 7 | 27140773 | 27140773 | NM_006735.3:c.703C>T | NP_006726.1:p.Gln235Ter | NC_000007.13:g.27140773G>A | OMIM Allelic Variant:604685.0002 | C2676772 612290 Microtia, hearing impairment, and cleft palate | | | | NM_006735.3(HOXA2):c.556C>A (p.Gln186Lys) | 3199 | HOXA2 | Pathogenic | 119489104 | RCV000005738; | N | MedGen:C2676772,OMIM:612290,ORPHA:140963 | 7 | 27140920 | 27140920 | NM_006735.3:c.556C>A | NP_006726.1:p.Gln186Lys | NC_000007.13:g.27140920G>T | OMIM Allelic Variant:604685.0001 | C2676772 612290 Microtia, hearing impairment, and cleft palate | | |
|
|
