Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Developmental Disabilities (D002658)
Parent Node: Dwarfism (D004392)
Parent Node: Facies (D019066)
Parent Node: Failure to Thrive (D005183)
..Starting node ..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
Child Nodes:
Sister Nodes:
..Cardiofaciocutaneous syndrome (C535579)
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Edinburgh Malformation Syndrome (C563051)
..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4836

Name:

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death

Definition:

Alternative IDs:

OMIM:612938

ParentIDs:

MESH:D000015|MESH:D002658|MESH:D004392|MESH:D005183|MESH:D019066

TreeNumbers:

C05.116.099.343/C567856 |C16.131.077/C567856 |C16.320.240/C567856 |C19.297/C567856 |C23.550.291.812/C567856 |C23.888.338/C567856 |F03.550.362/C567856

Synonyms:

GDFD

Slim Mappings:

Reference:

MedGen: C567856
MeSH: C567856
OMIM: 612938;

Genes: FTO;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0000193	Bifid uvula
4	HP:0001156	Brachydactyly
5	HP:0000175	Cleft palate
6	HP:0000280	Coarse facial features
7	HP:0000028	Cryptorchidism
8	HP:0000965	Cutis marmorata
9	HP:0001305	Dandy-Walker malformation
10	HP:0001508	Failure to thrive
11	HP:0001263	Global developmental delay
12	HP:0000238	Hydrocephalus
13	HP:0001276	Hypertonia
14	HP:0001639	Hypertrophic cardiomyopathy
15	HP:0001511	Intrauterine growth retardation
16	HP:0001339	Lissencephaly
17	HP:0000158	Macroglossia
18	HP:0000252	Microcephaly
19	HP:0001513	Obesity
20	HP:0001643	Patent ductus arteriosus
21	HP:0010808	Protruding tongue
22	HP:0000278	Retrognathia
23	HP:0001250	Seizure
24	HP:0000407	Sensorineural hearing impairment
25	HP:0000470	Short neck
26	HP:0002678	Skull asymmetry
27	HP:0001792	Small nail
28	HP:0001537	Umbilical hernia
29	HP:0001629	Ventricular septal defect

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_001080432.2(FTO):c.947G>A (p.Arg316Gln)	79068	FTO	Pathogenic	121918214	RCV000001110;	N	MedGen:C2752001,OMIM:612938,ORPHA:210144	16	53907749	53907749	NM_001080432.2:c.947G>A	NP_001073901.1:p.Arg316Gln	NC_000016.9:g.53907749G>A	OMIM Allelic Variant:610966.0001	C2752001 612938 Growth retardation, developmental delay, coarse facies, and early death
NM_001080432.2(FTO):c.956C>T (p.Ser319Phe)	79068	FTO	Likely pathogenic;Pathogenic	781028867	RCV000190415;	N	MedGen:C2752001,OMIM:612938,ORPHA:210144	16	53907758	53907758	NM_001080432.2:c.956C>T	NP_001073901.1:p.Ser319Phe	NC_000016.9:g.53907758C>T	OMIM Allelic Variant:610966.0002	C2752001 612938 Growth retardation, developmental delay, coarse facies, and early death