Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Menkes Kinky Hair Syndrome (D007706)
Parent Node: Photosensitivity Disorders (D010787)
..Starting node ..Hair defect with photosensitivity and mental retardation (C537628)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Cutaneous photosensitivity and colitis, lethal (C536224)
..Dermatitis, Photoallergic (D017454)
..Dermatitis, Phototoxic (D017484)
..Hair defect with photosensitivity and mental retardation (C537628)
..Hydroa Vacciniforme (D006837) 1
..PHOTOPAROXYSMAL RESPONSE 1 (OMIM:132100)
..PHOTOPAROXYSMAL RESPONSE 2 (OMIM:609572)
..Photoparoxysmal Response 3 (C563695)
..Poikiloderma of Kindler (C536321)
..Sunburn (D013471)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..UV-Sensitive Syndrome (C563466)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4857

Name:

Hair defect with photosensitivity and mental retardation

Definition:

Alternative IDs:

ParentIDs:

MESH:D007706|MESH:D008607|MESH:D010787

TreeNumbers:

C10.228.140.163.100.540/C537628 |C10.574.500.540/C537628 |C10.597.606.643.455.687/C537628 |C10.597.606.643/C537628 |C16.320.322.500.687/C537628 |C16.320.400.520/C537628 |C16.320.400.525.687/C537628 |C16.320.565.189.540/C537628 |C16.320.565.618.590/C537628 |C17.80

Synonyms:

Calderon Gonzalez-Cantu syndrome |Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation

Slim Mappings:

Reference:

MedGen: C537628
MeSH: C537628
OMIM: 234030;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002299	Brittle hair
3	HP:0002208	Coarse hair
4	HP:0000992	Cutaneous photosensitivity
5	HP:0001249	Intellectual disability
6	HP:0000535	Sparse and thin eyebrow
7	HP:0000653	Sparse eyelashes

Disease Causing ClinVar Variants