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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandAnemia, Hemolytic, Congenital (D000745)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5033
Name:Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D000745|MESH:D014564
TreeNumbers:C12.706/C563935 |C13.351.875/C563935 |C15.378.071.141.150/C563935 |C16.131.077/C563935 |C16.131.939/C563935 |C16.320.070/C563935
Synonyms:
Slim Mappings:Blood disease|Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563935
MeSH: C563935
OMIM: 600461;

Genes:
Phenotypes
1 HP:0000811Abnormal external genitalia
2 HP:0000363Abnormality of earlobe
3 HP:0001541Ascites
4 HP:0001869Deep plantar creases
5 HP:0005469Flat occiput
6 HP:0001878Hemolytic anemia
7 HP:0001433Hepatosplenomegaly
8 HP:0001852Sandal gap
Disease Causing ClinVar Variants