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:
expandCyanosis (D003490)
Parent Node:
expandFacial Dermatoses (D005148)
Parent Node:
expandHypotrichosis (D007039)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandRombo syndrome (C535870)

       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:9900
Name:Rombo syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002280|MESH:D003490|MESH:D005148|MESH:D007039|MESH:D012878
TreeNumbers:C04.557.470.200.165/C535870 |C04.557.470.565.165/C535870 |C04.588.805/C535870 |C17.800.271/C535870 |C17.800.329.937/C535870 |C17.800.882/C535870 |C23.888.248/C535870
Synonyms:
Slim Mappings:Cancer|Signs and symptoms|Skin disease
Reference: MedGen: C535870
MeSH: C535870
OMIM: 180730;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000534Abnormal eyebrow morphology
3 HP:0000499Abnormal eyelash morphology
4 HP:0002671Basal cell carcinoma
5 HP:0007380Facial telangiectasia
Disease Causing ClinVar Variants