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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: Craniofacial Abnormalities (D019465)
Parent Node: Dysostoses (D004413)
..Starting node ..Diaphanospondylodysostosis (C564305)
Child Nodes:
Sister Nodes:
..Achard syndrome (C536012)
..Acrodysostosis (C538179)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Cervical Vertebrae, Agenesis Of (C562952)
..Craniofacial Dysostosis (D003394) 68
..Diaphanospondylodysostosis (C564305)
..Focal Dermal Hypoplasia (D005489) 1
..Fronto-facio-nasal dysplasia (C538063)
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..Klippel-Feil Syndrome (D007714) 5
..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..Orofaciodigital Syndromes (D009958) 14
..Pelviscapular dysplasia (C535550) 1
..Rubinstein-Taybi Syndrome (D012415) 2
..Spondylocostal Dysostosis 4, Autosomal Dominant (C565149)
..SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT (OMIM:122600)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Spondylocostal dysostosis, autosomal recessive (C535781) 4
..Spondylospinal Thoracic Dysostosis (C566622)
..Synostosis (D013580) 150
..Thoracic Dysostosis, Isolated (C566063)
..Thoracopelvic Dysostosis (C566062)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3329

Name:

Diaphanospondylodysostosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D004413|MESH:D019465

TreeNumbers:

C05.116.099.370/C564305 |C05.660.207/C564305 |C16.131.621.207/C564305

Synonyms:

Vertebral Ossification, Defect in, with Nephrogenic Rests

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C564305
MeSH: C564305
OMIM: 608022;

Genes: BMPER;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0100752	Abnormal liver lobulation
3	HP:0008435	Absent in utero ossification of vertebral bodies
4	HP:0006615	Absent in utero rib ossification
5	HP:0001591	Bell-shaped thorax
6	HP:0000175	Cleft palate
7	HP:0000800	Cystic renal dysplasia
8	HP:0005280	Depressed nasal bridge
9	HP:0000457	Depressed nasal ridge
10	HP:0003521	Disproportionate short-trunk short stature
11	HP:0000105	Enlarged kidney
12	HP:0000286	Epicanthus
13	HP:0001290	Generalized hypotonia
14	HP:0001263	Global developmental delay
15	HP:0001765	Hammertoe
16	HP:0000316	Hypertelorism
17	HP:0001804	Hypoplastic fingernail
18	HP:0010880	Increased nuchal translucency
19	HP:0000023	Inguinal hernia
20	HP:0001511	Intrauterine growth retardation
21	HP:0000239	Large fontanelles
22	HP:0000369	Low-set ears
23	HP:0200133	Lumbosacral meningocele
24	HP:0000347	Micrognathia
25	HP:0000921	Missing ribs
26	HP:0003275	Narrow pelvis bone
27	HP:0008643	Nephroblastomatosis
28	HP:0100880	Nephrogenic rest
29	HP:0001562	Oligohydramnios
30	HP:0002126	Polymicrogyria
31	HP:0001538	Protuberant abdomen
32	HP:0002089	Pulmonary hypoplasia
33	HP:0002098	Respiratory distress
34	HP:0002093	Respiratory insufficiency
35	HP:0000470	Short neck
36	HP:0003196	Short nose
37	HP:0001762	Talipes equinovarus
38	HP:0005257	Thoracic hypoplasia
39	HP:0002779	Tracheomalacia
40	HP:0030290	Unossified sacrum
41	HP:0003422	Vertebral segmentation defect
42	HP:0000465	Webbed neck

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_133468.4(BMPER):c.925C>T (p.Gln309Ter)	168667	BMPER	Pathogenic	387906992	RCV000023721;	N	MedGen:C1842691,OMIM:608022,ORPHA:66637	7	34094913	34094913	NM_133468.4:c.925C>T	NP_597725.1:p.Gln309Ter	NC_000007.13:g.34094913C>T	OMIM Allelic Variant:608699.0001	C1842691 608022 Diaphanospondylodysostosis
NM_133468.4(BMPER):c.1109C>T (p.Pro370Leu)	168667	BMPER	Pathogenic	387906993	RCV000023724;	N	MedGen:C1842691,OMIM:608022,ORPHA:66637	7	34118499	34118499	NM_133468.4:c.1109C>T	NP_597725.1:p.Pro370Leu	NC_000007.13:g.34118499C>T	OMIM Allelic Variant:608699.0004	C1842691 608022 Diaphanospondylodysostosis
NM_133468.4(BMPER):c.1638T>A (p.Cys546Ter)	168667	BMPER	Pathogenic	387906994	RCV000023725;	N	MedGen:C1842691,OMIM:608022,ORPHA:66637	7	34125597	34125597	NM_133468.4:c.1638T>A	NP_597725.1:p.Cys546Ter	NC_000007.13:g.34125597T>A	OMIM Allelic Variant:608699.0005	C1842691 608022 Diaphanospondylodysostosis