Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Collagen Diseases (D003095)
Parent Node: Hypogonadism (D007006)
Parent Node: Skin Neoplasms (D012878)
..Starting node ..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
Child Nodes:
Sister Nodes:
..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
..Acanthoma (D049309)
..Bazex-Dupre-Christol syndrome (C537663)
..Becker Nevus Syndrome (C565735)
..Blue rubber bleb nevus syndrome (C536240)
..Calcifying Epithelial Odontogenic Tumor (C537961)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Collagenoma, Familial Cutaneous (C562925)
..Davenport Donlan syndrome (C535988)
..Dermatopathia pigmentosa reticularis (C535374)
..Familial cylindromatosis (C536611)
..Familial multiple trichodiscomas (C536847)
..Fanconi like syndrome (C536855)
..Giant pigmented hairy nevus (C536819)
..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..Histiocytosis, Progressive Mucinous (C564186)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Nevus, Epidermal (C562736)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Papillomatosis, Familial Cutaneous (C566832)
..Phacomatosis pigmentokeratotica (C537893)
..Reactive angioendotheliomatosis (C535293)
..Reed's syndrome (C535516)
..Rombo syndrome (C535870)
..Schwannomatosis (C536641)
..Sclerotylosis (C537526)
..Sebaceous Gland Neoplasms (D012626) 2
..Sweat Gland Neoplasms (D013544)
..Trichoepithelioma, Multiple Familial, 2 (C567418)
..Trichoepitheliomas, Multiple Desmoplastic (C566034)
..Trichofolliculoma (C536553)
..Tufted angioma (C536924)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1760
Name:	Cardiomyopathy hypogonadism collagenoma syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003095\|MESH:D007006\|MESH:D009202\|MESH:D012878
TreeNumbers:	C04.588.805/C535582 \|C14.280.238/C535582 \|C17.300.200/C535582 \|C17.800.882/C535582 \|C19.391.482/C535582
Synonyms:	Cardiomyopathy-Hypogonadism-Collagenoma Syndrome
Slim Mappings:	Cancer\|Cardiovascular disease\|Connective tissue disease\|Endocrine system disease\|Skin disease
Reference:	MedGen: C535582 MeSH: C535582 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants