Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCongenital Microtia (D065817)
Parent Node:
expandHearing Loss, Conductive (D006314)
Parent Node:
expandMastocytosis, Cutaneous (D034701)
..Starting node
..expandMastocytosis, cutaneous, with short stature, conductive hearing loss and microtia (C536033)

       Child Nodes:



 Sister Nodes: 
..expandMastocytoma, Skin (D054705)
..expandMastocytosis, cutaneous, with short stature, conductive hearing loss and microtia (C536033)
..expandUrticaria Pigmentosa (D014582)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6825
Name:Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
Definition:
Alternative IDs:
ParentIDs:MESH:D006314|MESH:D034701|MESH:D065817
TreeNumbers:C04.557.450.565.465.500/C536033 |C09.218.235/C536033 |C09.218.458.341.562/C536033 |C10.597.751.418.341.562/C536033 |C16.131.287/C536033 |C17.800.508.473/C536033 |C23.888.592.763.393.341.562/C536033
Synonyms:
Slim Mappings:Cancer|Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C536033
MeSH: C536033
OMIM: 248910;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001000Abnormality of skin pigmentation
4 HP:0000405Conductive hearing impairment
5 HP:0200151Cutaneous mastocytosis
6 HP:0011971Dermatographic urticaria
7 HP:0011968Feeding difficulties
8 HP:0001290Generalized hypotonia
9 HP:0000218High palate
10 HP:0001249Intellectual disability
11 HP:0000252Microcephaly
12 HP:0000347Micrognathia
13 HP:0008551Microtia
14 HP:0002650Scoliosis
15 HP:0004322Short stature
16 HP:0000430Underdeveloped nasal alae
17 HP:0000582Upslanted palpebral fissure
18 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants