Disease Browser
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Parent Node: 46, XX Disorders of Sex Development (D058489) | Parent Node: Congenital Abnormalities (D000013) | ..Starting node ..Mullerian aplasia (C537371)
| Child Nodes:
| ........MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000) |
Sister Nodes: | ..Abnormalities, Drug-Induced (D000014) 8
| ..Abnormalities, Multiple (D000015) 715
| ..Abnormalities, Radiation-Induced (D000016)
| ..Abnormalities, Severe Teratoid (D009008) 6
| ..Absent breasts and nipples (C535565)
| ..Accessory pancreas (C536003)
| ..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
| ..Aicardi Syndrome (D058540) 1
| ..Arrhinia (C537438)
| ..Atlanto-Axial Fusion (C538196)
| ..Aural Atresia, Congenital (C564321)
| ..Bile and Pancreatic Ducts, Complete Absence of (C564298)
| ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
| ..Cardiovascular Abnormalities (D018376) 331
| ..Caudal Duplication Anomaly (C564315)
| ..Chromosome Disorders (D025063) 160
| ..Congenital Microtia (D065817) 12
| ..Crane-Heise syndrome (C536452)
| ..Cryptotia, Familial (C565140)
| ..Deal Barratt Dillon syndrome (C538206)
| ..Digestive System Abnormalities (D004065) 78
| ..Eye Abnormalities (D005124) 208
| ..Gallbladder, Agenesis Of (C562564)
| ..Hereditary renal agenesis (C536482)
| ..Hernias, Diaphragmatic, Congenital (D065630) 7
| ..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
| ..Laryngeal cleft (C537875)
| ..Laryngeal Web, Familial (C563636)
| ..Lymphatic Abnormalities (D044148) 10
| ..Mullerian aplasia (C537371) 1
| ..Musculoskeletal Abnormalities (D009139) 1165
| ..Nasal Bones, Absence of (C562753)
| ..Nervous System Malformations (D009421) 567
| ..Pancreas agenesis, dorsal (C538109)
| ..Patterson Stevenson syndrome (C536311) 1
| ..Renal and Mullerian Duct Hypoplasia (C564853)
| ..Respiratory System Abnormalities (D015619) 27
| ..Rhiny (C566708)
| ..Saito Kuba Tsuruta syndrome (C537226)
| ..Schlegelberger Grote syndrome (C536635)
| ..Situs Inversus (D012857) 19
| ..Skin Abnormalities (D012868) 358
| ..Sprengel deformity (C535802)
| ..Stomatognathic System Abnormalities (D018640) 329
| ..Stridor, Congenital (C563163)
| ..Thyroid Dysgenesis (D050033) 3
| ..Urogenital Abnormalities (D014564) 196
| ..Vagina, absence of (C536523)
| ..Vertebral fusion posterior lumbosacral blepharoptosis (C536344)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7445 |
Name: | Mullerian aplasia |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000013|MESH:D058489 |
TreeNumbers: | C12.706.316.064/C537371 |C13.351.875.253.064/C537371 |C16.131.939.316.064/C537371 |C16.131/C537371 |C19.391.119.064/C537371 |F03.800.399.500/C537371 |
Synonyms: | Congenital absence of uterus and vagina |Klippel-Feil deformity, conductive deafness, and absent vagina |Mayer Rokitansky Kuster Hauser syndrome |Mayer-Rokitansky-Kuster-Hauser Syndrome |Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II |MRK anomaly |MRKH anoma |
Slim Mappings: | Congenital abnormality|Endocrine system disease|Mental disorder|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C537371
MeSH: C537371
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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