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:
expandAlopecia (D000505)
Parent Node:
expandDwarfism (D004392)
Parent Node:
expandEpidermolysis Bullosa (D004820)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandPigmentation Disorders (D010859)
..Starting node
..expandBullous Dystrophy, Hereditary Macular Type (C563065)

       Child Nodes:



 Sister Nodes: 
..expandAcroleukopathy, Symmetric (C566322)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandArgyria (D001129)
..expandBADS Syndrome (C562663)
..expandBasaran Yilmaz syndrome (C537660)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCafe-au-Lait Spots (D019080) Child4
..expandDyschromatosis symmetrica hereditaria 1 (C535729)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandElejalde Disease (C536203)
..expandFLOTCH syndrome (C537065)
..expandGraying of Hair, Precocious (C564209)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 3 (C537303)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHeterochromia iridis (C538115)
..expandHyperpigmentation (D017495) Child30
..expandHypopigmentation (D017496) Child49
..expandIncontinentia Pigmenti (D007184) Child2
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMacules hereditary congenital hypopigmented and hyperpigmented (C537836)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandPeeling skin syndrome, acral type (C536316)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPigmented purpuric eruption (C537186)
..expandPropping Zerres syndrome (C538052)
..expandRed skin pigment anomaly of New Guinea (C535515)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandSpastic paraplegia 23 (C536859)
..expandTang Hsi Ryu syndrome (C536897)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandUrticaria Pigmentosa (D014582)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWhite forelock with malformations (C536700)
..expandWhyte Murphy syndrome (C536054)
..expandXeroderma Pigmentosum (D014983) Child16
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1533
Name:Bullous Dystrophy, Hereditary Macular Type
Definition:
Alternative IDs:OMIM:302000
ParentIDs:MESH:D000505|MESH:D004392|MESH:D004820|MESH:D008607|MESH:D008831|MESH:D010859|MESH:D040181
TreeNumbers:C05.116.099.343/C563065 |C05.660.207.620/C563065 |C10.500.507.400.500/C563065 |C10.597.606.643/C563065 |C16.131.621.207.620/C563065 |C16.131.666.507.400.500/C563065 |C16.131.831.493/C563065 |C16.320.240/C563065 |C16.320.322/C563065 |C16.320.850.275/C563065 |C17.80
Synonyms:EBM |Epidermolysis Bullosa, Macular Type
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease
Reference: MedGen: C563065
MeSH: C563065
OMIM: 302000;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001597Abnormality of the nail
3 HP:0001063Acrocyanosis
4 HP:0007418Alopecia totalis
5 HP:0003819Death in childhood
6 HP:0000953Hyperpigmentation of the skin
7 HP:0001249Intellectual disability
8 HP:0000252Microcephaly
9 HP:0003510Severe short stature
10 HP:0009381Short finger
11 HP:0001182Tapered finger
Disease Causing ClinVar Variants