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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

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Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Lordosis (D008141)
..Starting node ..Hypochondroplasia (C562937)
Child Nodes:
Sister Nodes:
..Camera Marugo Cohen syndrome (C537964)
..Hypochondroplasia (C562937)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5551

Name:

Hypochondroplasia

Definition:

Alternative IDs:

OMIM:146000

ParentIDs:

MESH:D004392|MESH:D008141|MESH:D017880

TreeNumbers:

C05.116.099.343/C562937 |C05.116.900.800.750/C562937 |C05.660.585/C562937 |C16.131.621.585/C562937 |C16.320.240/C562937 |C19.297/C562937

Synonyms:

HCH |Hypochondrodysplasia

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C562937
MeSH: C562937
OMIM: 146000;

Genes: FGFR3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011405	Childhood onset short-limb short stature
3	HP:0002644	Abnormality of pelvic girdle bone morphology
4	HP:0000956	Acanthosis nigricans	HP:0040283
5	HP:0009815	Aplasia/hypoplasia of the extremities
6	HP:0001156	Brachydactyly
7	HP:0003015	Flared metaphysis
8	HP:0002007	Frontal bossing
9	HP:0002970	Genu varum
10	HP:0001249	Intellectual disability	HP:0040283
11	HP:0001377	Limited elbow extension
12	HP:0002938	Lumbar hyperlordosis
13	HP:0000256	Macrocephaly
14	HP:0000272	Malar flattening
15	HP:0003026	Short long bone

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
NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu)	2261	FGFR3	Pathogenic	121913116	RCV000017769;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1801122	1801122	NM_000142.4:c.251C>T	NP_000133.1:p.Ser84Leu	NC_000004.11:g.1801122C>T	OMIM Allelic Variant:134934.0032	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.344A>T (p.Gln115Leu)	2261	FGFR3	Pathogenic	587778769	RCV000055715;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1801215	1801215	NM_000142.4:c.344A>T	NP_000133.1:p.Gln115Leu	NC_000004.11:g.1801215A>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.597C>T (p.His199=)	2261	FGFR3	Pathogenic	587778801	RCV000056125;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1803245	1803245	NM_000142.4:c.597C>T	NP_000133.1:p.His199=	NC_000004.11:g.1803245C>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.791C>T (p.Thr264Met)	2261	FGFR3	Pathogenic	587778773	RCV000056063;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1803613	1803613	NM_000142.4:c.791C>T	NP_000133.1:p.Thr264Met	NC_000004.11:g.1803613C>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.801G>T (p.Leu267=)	2261	FGFR3	Pathogenic	587778811	RCV000056147;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1803623	1803623	NM_000142.4:c.801G>T	NP_000133.1:p.Leu267=	NC_000004.11:g.1803623G>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.833A>G (p.Tyr278Cys)	2261	FGFR3	Pathogenic	121913115	RCV000017768;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1803655	1803655	NM_000142.4:c.833A>G	NP_000133.1:p.Tyr278Cys	NC_000004.11:g.1803655A>G	OMIM Allelic Variant:134934.0031	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.835A>T (p.Ser279Cys)	2261	FGFR3	Pathogenic	121913114	RCV000017766; RCV000017767;	N	MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1803657	1803657	NM_000142.4:c.835A>T	NP_000133.1:p.Ser279Cys	NC_000004.11:g.1803657A>T	OMIM Allelic Variant:134934.0030	C0001080 100800 Achondroplasia; C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.970C>G (p.Leu324Val)	2261	FGFR3	Pathogenic	587778816	RCV000056161;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1805458	1805458	NM_000142.4:c.970C>G	NP_000133.1:p.Leu324Val	NC_000004.11:g.1805458C>G	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.983A>T (p.Asn328Ile)	2261	FGFR3	Pathogenic	587778817	RCV000056162;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1805471	1805471	NM_000142.4:c.983A>T	NP_000133.1:p.Asn328Ile	NC_000004.11:g.1805471A>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1024G>T (p.Gly342Cys)	2261	FGFR3	Pathogenic	587778775	RCV000056066;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1805512	1805512	NM_000142.4:c.1024G>T	NP_000133.1:p.Gly342Cys	NC_000004.11:g.1805512G>T	OMIM Allelic Variant:134934.0036	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1142T>A (p.Val381Glu)	2261	FGFR3	Pathogenic	587778776	RCV000056069;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1806123	1806123	NM_000142.4:c.1142T>A	NP_000133.1:p.Val381Glu	NC_000004.11:g.1806123T>A	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val)	2261	FGFR3	Pathogenic	80053154	RCV000017754;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807363	1807363	NM_000142.4:c.1612A>G	NP_000133.1:p.Ile538Val	NC_000004.11:g.1807363A>G	OMIM Allelic Variant:134934.0019	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1619A>C (p.Asn540Thr)	2261	FGFR3	Pathogenic	77722678	RCV000017753;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807370	1807370	NM_000142.4:c.1619A>C	NP_000133.1:p.Asn540Thr	NC_000004.11:g.1807370A>C,NC_000004.11:g.1807370A>G	OMIM Allelic Variant:134934.0018	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser)	2261	FGFR3	Pathogenic	77722678	RCV000017758;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807370	1807370	NM_000142.4:c.1619A>G	NP_000133.1:p.Asn540Ser	NC_000004.11:g.1807370A>C,NC_000004.11:g.1807370A>G	OMIM Allelic Variant:134934.0023	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys)	2261	FGFR3	Pathogenic	28933068	RCV000017740; RCV000017771;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002; MedGen:C1868678,OMIM:187600	4	1807371	1807371	NM_000142.4:c.1620C>A	NP_000133.1:p.Asn540Lys	NC_000004.11:g.1807371C>A,NC_000004.11:g.1807371C>G	OMIM Allelic Variant:134934.0010,OMIM Allelic Variant:134934.0034	C0410529 146000 Hypochondroplasia; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys)	2261	FGFR3	Pathogenic	28933068	RCV000017740; RCV000017771;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002; MedGen:C1868678,OMIM:187600	4	1807371	1807371	NM_000142.4:c.1620C>A	NP_000133.1:p.Asn540Lys	NC_000004.11:g.1807371C>A,NC_000004.11:g.1807371C>G	OMIM Allelic Variant:134934.0010,OMIM Allelic Variant:134934.0034	C0410529 146000 Hypochondroplasia; C1868678 187600 Thanatophoric dysplasia type 1
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys)	2261	FGFR3	Pathogenic	28933068	RCV000017741;	Y	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807371	1807371	NM_001163213.1:c.1626C>G	NP_001156685.1:p.Asn542Lys	NC_000004.11:g.1807371C>A,NC_000004.11:g.1807371C>G	OMIM Allelic Variant:134934.0012	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln)	2261	FGFR3	Pathogenic	78311289	RCV000017757; RCV000144153;	Y	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807889	1807889	NM_000142.4:c.1948A>C	NP_000133.1:p.Lys650Gln	NC_000004.11:g.1807889A>C,NC_000004.11:g.1807889A>G	OMIM Allelic Variant:134934.0022,OMIM Allelic Variant:134934.0024	C0410529 146000 Hypochondroplasia; C0005684 109800 Malignant tumor of urinary bladder
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr)	2261	FGFR3	Pathogenic	121913105	RCV000056100;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807890	1807890	NM_000142.4:c.1949A>C	NP_000133.1:p.Lys650Thr	NC_000004.11:g.1807890A>C,NC_000004.11:g.1807890A>T	-	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1950G>T (p.Lys650Asn)	2261	FGFR3	Pathogenic	28928868	RCV000017755;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807891	1807891	NM_000142.4:c.1950G>T	NP_000133.1:p.Lys650Asn	NC_000004.11:g.1807891G>C,NC_000004.11:g.1807891G>T	OMIM Allelic Variant:134934.0020	C0410529 146000 Hypochondroplasia
NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn)	2261	FGFR3	Pathogenic	28928868	RCV000017756;	N	MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807891	1807891	NM_000142.4:c.1950G>C	NP_000133.1:p.Lys650Asn	NC_000004.11:g.1807891G>C,NC_000004.11:g.1807891G>T	OMIM Allelic Variant:134934.0021	C0410529 146000 Hypochondroplasia