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:
expandCarcinoma, Basal Cell (D002280)
Parent Node:
expandHistiocytoma, Benign Fibrous (D018219)
Parent Node:
expandHypotrichosis (D007039)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandBazex-Dupre-Christol syndrome (C537663)

       Child Nodes:



 Sister Nodes: 
..expandAbdominal chemodectomas with cutaneous angiolipomas (C535552)
..expandAcanthoma (D049309)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBecker Nevus Syndrome (C565735)
..expandBlue rubber bleb nevus syndrome (C536240)
..expandCalcifying Epithelial Odontogenic Tumor (C537961)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCollagenoma, Familial Cutaneous (C562925)
..expandDavenport Donlan syndrome (C535988)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandFamilial cylindromatosis (C536611)
..expandFamilial multiple trichodiscomas (C536847)
..expandFanconi like syndrome (C536855)
..expandGiant pigmented hairy nevus (C536819)
..expandHamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..expandHistiocytosis, Progressive Mucinous (C564186)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandNevus, Epidermal (C562736)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPapillomatosis, Familial Cutaneous (C566832)
..expandPhacomatosis pigmentokeratotica (C537893)
..expandReactive angioendotheliomatosis (C535293)
..expandReed's syndrome (C535516)
..expandRombo syndrome (C535870)
..expandSchwannomatosis (C536641)
..expandSclerotylosis (C537526)
..expandSebaceous Gland Neoplasms (D012626) Child2
..expandSweat Gland Neoplasms (D013544)
..expandTrichoepithelioma, Multiple Familial, 2 (C567418)
..expandTrichoepitheliomas, Multiple Desmoplastic (C566034)
..expandTrichofolliculoma (C536553)
..expandTufted angioma (C536924)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1199
Name:Bazex-Dupre-Christol syndrome
Definition:
Alternative IDs:OMIM:301845
ParentIDs:MESH:D002280|MESH:D007039|MESH:D012878|MESH:D018219
TreeNumbers:C04.557.450.565.590.425.350/C537663 |C04.557.470.200.165/C537663 |C04.557.470.565.165/C537663 |C04.588.805/C537663 |C17.800.329.937/C537663 |C17.800.882/C537663
Synonyms:BAZEX-DUPRE-CHRISTOL SYNDROME |Bazex syndrome |BDCS |BZX |Follicular atrophoderma and basal cell carcinomas |Follicular atrophoderma-basal cell carcinoma syndrome |Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome
Slim Mappings:Cancer|Skin disease
Reference: MedGen: C537663
MeSH: C537663
OMIM: 301845;

Genes:
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0003593Infantile onset
3 HP:0000153Abnormality of the mouth
4 HP:0040154Acne inversaHP:0040283
5 HP:0001047Atopic dermatitis
6 HP:0002671Basal cell carcinoma
7 HP:0002208Coarse hair
8 HP:0000964EczemaHP:0040283
9 HP:0000953Hyperpigmentation of the skin
10 HP:0000966Hypohidrosis
11 HP:0001382Joint hypermobility
12 HP:0009765Low hanging columella
13 HP:0001056Milia
14 HP:0000418Narrow nasal ridge
15 HP:0003764Nevus
16 HP:0001006obsolete Hypotrichosis
17 HP:0003777Pili torti
18 HP:0025367TrichoepitheliomaHP:0040283
19 HP:0009886Trichorrhexis nodosa
20 HP:0000430Underdeveloped nasal alae
Disease Causing ClinVar Variants