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: Diseases (C)
Parent Node: Hyperphosphatasia with Mental Retardation (C565495)
..Starting node ..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Child Nodes:
Sister Nodes:
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5458

Name:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3

Definition:

Alternative IDs:

ParentIDs:

MESH:C565495

TreeNumbers:

C10.597.606.643/C565495/614207 |C16.131.077/C565495/614207 |C18.452.750/C565495/614207 |C23.888.592.604.646/C565495/614207 |F03.550.600/C565495/614207

Synonyms:

HPMRS3 |MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 |MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21 |MRT17 |MRT21

Slim Mappings:

Congenital abnormality|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 614207
MeSH: 614207
OMIM: 614207;

Genes: PGAP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002059	Cerebral atrophy	HP:0040283
4	HP:0003155	Elevated circulating alkaline phosphatase concentration
5	HP:0001290	Generalized hypotonia
6	HP:0001263	Global developmental delay
7	HP:0002905	Hyperphosphatemia
8	HP:0001256	Intellectual disability, mild	HP:0040283
9	HP:0010864	Intellectual disability, severe
10	HP:0000252	Microcephaly	HP:0040283
11	HP:0001250	Seizure	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001145438.2(PGAP2):c.479C>T (p.Thr160Ile)	27315	PGAP2	Pathogenic	587776970	RCV000043539;	N	Gene:100689013,MedGen:C3280153,OMIM:614207	11	3845255	3845255	NM_001145438.2:c.479C>T	NP_001138910.1:p.Thr160Ile	NC_000011.9:g.3845255C>T	OMIM Allelic Variant:615187.0005	C3280153 614207 Hyperphosphatasia with mental retardation syndrome 3