Disease Browser
Parent Node: Alopecia (D000505) Parent Node: Dwarfism (D004392) Parent Node: Epidermolysis Bullosa (D004820) Parent Node: Genetic Diseases, X-Linked (D040181) Parent Node: Intellectual Disability (D008607) Parent Node: Microcephaly (D008831) Parent Node: Pigmentation Disorders (D010859) ..Starting node .. Bullous Dystrophy, Hereditary Macular Type (C563065) Child Nodes:
Sister Nodes: ..Acroleukopathy, Symmetric (C566322) ..Anonychia with Flexural Pigmentation (C566278) ..Argyria (D001129) ..BADS Syndrome (C562663) ..Basaran Yilmaz syndrome (C537660) ..Bullous Dystrophy, Hereditary Macular Type (C563065) ..Cafe-au-Lait Spots (D019080) 4 ..Dyschromatosis symmetrica hereditaria 1 (C535729) ..Dyschromatosis universalis hereditaria (C535730) ..Dyschromatosis Universalis Hereditaria 1 (C567273) ..Dyschromatosis Universalis Hereditaria 2 (C567194) ..Elejalde Disease (C536203) ..FLOTCH syndrome (C537065) ..Graying of Hair, Precocious (C564209) ..Griscelli syndrome type 1 (C537301) ..Griscelli syndrome type 3 (C537303) ..Grouped Pigmentation of the Macula (C565530) ..Heterochromia iridis (C538115) ..Hyperpigmentation (D017495) 30 ..Hypopigmentation (D017496) 49 ..Incontinentia Pigmenti (D007184) 2 ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440) ..Macules hereditary congenital hypopigmented and hyperpigmented (C537836) ..Oculocerebral hypopigmentation syndrome type Preus (C537866) ..Peeling skin syndrome, acral type (C536316) ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461) ..Pigmented purpuric eruption (C537186) ..Propping Zerres syndrome (C538052) ..Red skin pigment anomaly of New Guinea (C535515) ..Russell-Silver Syndrome, X-Linked (C562446) ..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376) ..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374) ..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300) ..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119) ..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139) ..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155) ..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096) ..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091) ..Spastic paraplegia 23 (C536859) ..Tang Hsi Ryu syndrome (C536897) ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244) ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554) ..Thumb deformity, alopecia, pigmentation anomaly (C536904) ..Urticaria Pigmentosa (D014582) ..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580) ..White forelock with malformations (C536700) ..Whyte Murphy syndrome (C536054) ..Xeroderma Pigmentosum (D014983) 16 ..Yellow Nail Syndrome (D056684) 1 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 Disease Causing ClinVar Variants