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:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandMicrophthalmos (D008850)
Parent Node:
expandPrognathism (D011378)
..Starting node
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)

       Child Nodes:



 Sister Nodes: 
..expandJorgenson Lenz syndrome (C536292)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMOMES Syndrome (C564660)
..expandPrognathism, Mandibular (C562559)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7181
Name:Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism
Definition:
Alternative IDs:OMIM:601349
ParentIDs:MESH:D005532|MESH:D008831|MESH:D008850|MESH:D011378
TreeNumbers:C05.330.495/C537686 |C05.500.460.655/C537686 |C05.500.607.655/C537686 |C05.660.207.540.460.655/C537686 |C05.660.207.620/C537686 |C05.660.585.512.380/C537686 |C07.320.440.655/C537686 |C07.320.610.655/C537686 |C07.650.500.460.655/C537686 |C10.500.507.400.500/C53768
Synonyms:MCOPS8 |MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM |Microphthalmia, syndromic 8 |MMEP
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C537686
MeSH: C537686
OMIM: 601349;

Genes: AF8T;
Phenotypes
1 HP:0000581Blepharophimosis
2 HP:0000175Cleft palate
3 HP:0000204Cleft upper lip
4 HP:0000028Cryptorchidism
5 HP:0001249Intellectual disability
6 HP:0000303Mandibular prognathia
7 HP:0000252Microcephaly
8 HP:0000482Microcornea
9 HP:0000568Microphthalmia
10 HP:0000202Oral cleft
11 HP:0100678Premature skin wrinkling
12 HP:0012745Short palpebral fissure
13 HP:0001839Split foot
14 HP:0001566Widely-spaced maxillary central incisors
Disease Causing ClinVar Variants