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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

Disease Browser
Parent Node: Menstruation Disturbances (D008599)
..Starting node ..Hymen, Imperforate (C562397)
Child Nodes:
Sister Nodes:
..Amenorrhea (D000568) 3
..Dysmenorrhea (D004412)
..Hymen, Imperforate (C562397)
..Menorrhagia (D008595)
..Oligomenorrhea (D009839)
..Premenstrual Syndrome (D011293) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5327

Name:

Hymen, Imperforate

Definition:

Alternative IDs:

ParentIDs:

MESH:D008599

TreeNumbers:

C23.550.568/C562397

Synonyms:

Slim Mappings:

Pathology (process)

Reference:

MedGen: C562397
MeSH: C562397
OMIM: 237100;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000141	Amenorrhea
3	HP:0030711	Hydrocolpos
4	HP:0030011	Imperforate hymen

Disease Causing ClinVar Variants