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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: Limb Deformities, Congenital (D017880)
Parent Node: Ovarian Diseases (D010049)
..Starting node ..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
Child Nodes:
Sister Nodes:
..Anovulation (D000858)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..Menopause, Premature (D008594) 1
..Oophoritis (D009869) 1
..Ovarian Cysts (D010048) 5
..OVARIAN DYSGENESIS 1 (OMIM:233300)
..Ovarian Hyperstimulation Syndrome (D016471)
..Ovarian Neoplasms (D010051) 25
..Primary Ovarian Insufficiency (D016649) 9
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2125

Name:

Chondrodysplasia, acromesomelic, with genital anomalies

Definition:

Alternative IDs:

OMIM:609441

ParentIDs:

MESH:D010049|MESH:D017880

TreeNumbers:

C05.660.585/C537913 |C13.351.500.056.630/C537913 |C16.131.621.585/C537913 |C19.391.630/C537913

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female)

Reference:

MedGen: C537913
MeSH: C537913
OMIM: 609441;

Genes: BMPR1B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010242	Aplasia of the proximal phalanges of the hand
3	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
4	HP:0001769	Broad foot
5	HP:0009702	Carpal synostosis
6	HP:0008873	Disproportionate short-limb short stature
7	HP:0002990	Fibular aplasia
8	HP:0000815	Hypergonadotropic hypogonadism
9	HP:0003022	Hypoplasia of the ulna
10	HP:0000013	Hypoplasia of the uterus
11	HP:0000786	Primary amenorrhea
12	HP:0009466	Radial deviation of finger
13	HP:0100864	Short femoral neck
14	HP:0009381	Short finger
15	HP:0009803	Short phalanx of finger
16	HP:0001831	Short toe
17	HP:0001762	Talipes equinovarus
18	HP:0008368	Tarsal synostosis
19	HP:0005028	Widened proximal tibial metaphyses

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_001203.2(BMPR1B):c.91C>T (p.Arg31Cys)	658	BMPR1B	Pathogenic	745854387	RCV000201128;	N	MedGen:C1836182,OMIM:609441	4	96025666	96025666	NM_001203.2:c.91C>T	NP_001194.1:p.Arg31Cys	NC_000004.11:g.96025666C>T	OMIM Allelic Variant:603248.0007	C1836182 609441 Chondrodysplasia acromesomelic with genital anomalies
NM_001203.2(BMPR1B):c.157T>C (p.Cys53Arg)	658	BMPR1B	Pathogenic	863225041	RCV000201167;	N	MedGen:C1836182,OMIM:609441	4	96035884	96035884	NM_001203.2:c.157T>C	NP_001194.1:p.Cys53Arg	NC_000004.11:g.96035884T>C	OMIM Allelic Variant:603248.0005	C1836182 609441 Chondrodysplasia acromesomelic with genital anomalies
NM_001203.2(BMPR1B):c.361_368delGGACCTAT (p.Gly121Thrfs)	658	BMPR1B	Pathogenic	863223287	RCV000006935;	N	MedGen:C1836182,OMIM:609441	4	96044972	96044979	NM_001203.2:c.361_368delGGACCTAT	NP_001194.1:p.Gly121Thrfs	NC_000004.11:g.96044972_96044979delGGACCTAT	OMIM Allelic Variant:603248.0003	C1836182 609441 Chondrodysplasia acromesomelic with genital anomalies
NM_001256794.1(BMPR1B):c.657G>A (p.Trp219Ter)	658	BMPR1B	Pathogenic	863225042	RCV000201044;	N	MedGen:C1836182,OMIM:609441	4	96051084	96051084	NM_001256794.1:c.657G>A	NP_001243723.1:p.Trp219Ter	NC_000004.11:g.96051084G>A	OMIM Allelic Variant:603248.0006	C1836182 609441 Chondrodysplasia acromesomelic with genital anomalies