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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Craniofacial Abnormalities (D019465)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
Child Nodes:
Sister Nodes:
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Behr syndrome (C537669)
..CAPOS syndrome (C535351)
..Costeff optic atrophy syndrome (C535311)
..Jensen syndrome (C537568)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mohr-Tranebjaerg syndrome (C535808)
..Optic Atrophies, Hereditary (D015418) 30
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Optic atrophy, X-linked (C537125)
..PEHO syndrome (C536317)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Ataxia (C564815)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Treft Sanborn Carey syndrome (C536544)
..Warburg Sjo Fledelius syndrome (C536681)
..Wolfram Syndrome 2 (C565733)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7008

Name:

Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D008607|MESH:D009896|MESH:D019465

TreeNumbers:

C05.660.207/C563810 |C10.292.700.225/C563810 |C10.597.606.643/C563810 |C11.640.451/C563810 |C16.131.621.207/C563810 |C23.550.393/C563810 |C23.888.592.604.646/C563810 |F03.550.600/C563810

Synonyms:

Slim Mappings:

Reference:

MedGen: C563810
MeSH: C563810
OMIM: 609037;

Genes:

Phenotypes

1	HP:0000598	Abnormality of the ear
2	HP:0000387	Absent earlobe
3	HP:0000455	Broad nasal tip
4	HP:0002136	Broad-based gait
5	HP:0002353	EEG abnormality
6	HP:0001263	Global developmental delay
7	HP:0000316	Hypertelorism
8	HP:0006887	Intellectual disability, progressive
9	HP:0010864	Intellectual disability, severe
10	HP:0000276	Long face
11	HP:0000252	Microcephaly
12	HP:0000648	Optic atrophy
13	HP:0000508	Ptosis
14	HP:0001250	Seizure
15	HP:0004322	Short stature
16	HP:0000319	Smooth philtrum
17	HP:0003745	Sporadic
18	HP:0000219	Thin upper lip vermilion

Disease Causing ClinVar Variants