Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
46, XX Disorders of Sex Development (D058489)
Parent Node:
expand
Congenital Abnormalities (D000013)
..Starting node
..expand
Mullerian aplasia (C537371)

       Child Nodes:
........expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)



 Sister Nodes: 
..expandAbnormalities, Drug-Induced (D000014) Child8
..expandAbnormalities, Multiple (D000015) Child715
..expandAbnormalities, Radiation-Induced (D000016)
..expandAbnormalities, Severe Teratoid (D009008) Child6
..expandAbsent breasts and nipples (C535565)
..expandAccessory pancreas (C536003)
..expandAICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..expandAicardi Syndrome (D058540) Child1
..expandArrhinia (C537438)
..expandAtlanto-Axial Fusion (C538196)
..expandAural Atresia, Congenital (C564321)
..expandBile and Pancreatic Ducts, Complete Absence of (C564298)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandCardiovascular Abnormalities (D018376) Child331
..expandCaudal Duplication Anomaly (C564315)
..expandChromosome Disorders (D025063) Child160
..expandCongenital Microtia (D065817) Child12
..expandCrane-Heise syndrome (C536452)
..expandCryptotia, Familial (C565140)
..expandDeal Barratt Dillon syndrome (C538206)
..expandDigestive System Abnormalities (D004065) Child78
..expandEye Abnormalities (D005124) Child208
..expandGallbladder, Agenesis Of (C562564)
..expandHereditary renal agenesis (C536482)
..expandHernias, Diaphragmatic, Congenital (D065630) Child7
..expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..expandLaryngeal cleft (C537875)
..expandLaryngeal Web, Familial (C563636)
..expandLymphatic Abnormalities (D044148) Child10
..expandMullerian aplasia (C537371) Child1
..expandMusculoskeletal Abnormalities (D009139) Child1165
..expandNasal Bones, Absence of (C562753)
..expandNervous System Malformations (D009421) Child567
..expandPancreas agenesis, dorsal (C538109)
..expandPatterson Stevenson syndrome (C536311) Child1
..expandRenal and Mullerian Duct Hypoplasia (C564853)
..expandRespiratory System Abnormalities (D015619) Child27
..expandRhiny (C566708)
..expandSaito Kuba Tsuruta syndrome (C537226)
..expandSchlegelberger Grote syndrome (C536635)
..expandSitus Inversus (D012857) Child19
..expandSkin Abnormalities (D012868) Child358
..expandSprengel deformity (C535802)
..expandStomatognathic System Abnormalities (D018640) Child329
..expandStridor, Congenital (C563163)
..expandThyroid Dysgenesis (D050033) Child3
..expandUrogenital Abnormalities (D014564) Child196
..expandVagina, absence of (C536523)
..expandVertebral fusion posterior lumbosacral blepharoptosis (C536344)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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