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:
expandBlindness (D001766)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHair Diseases (D006201)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandRodrigues blindness (C535865)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9893
Name:Rodrigues blindness
Definition:
Alternative IDs:
ParentIDs:MESH:D001766|MESH:D006130|MESH:D006201|MESH:D014071
TreeNumbers:C07.650.800/C535865 |C07.793.700/C535865 |C10.597.751.941.162/C535865 |C11.966.075/C535865 |C16.131.850.800/C535865 |C17.800.329/C535865 |C23.550.393/C535865 |C23.888.592.763.941.162/C535865
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C535865
MeSH: C535865
OMIM: 268320;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000618Blindness
4 HP:0000968Ectodermal dysplasia
5 HP:0002213Fine hair
6 HP:0001249Intellectual disability
7 HP:0000482Microcornea
8 HP:0000568Microphthalmia
9 HP:0000446Narrow nasal bridge
10 HP:0000411Protruding ear
11 HP:0000647Sclerocornea
12 HP:0004322Short stature
13 HP:0008070Sparse hair
14 HP:0000692Tooth malposition
Disease Causing ClinVar Variants