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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
..Starting node ..Acromesomelic dysplasia, Maroteaux type (C535661)
Child Nodes:
Sister Nodes:
..Acro-Osteolysis (D030981) 7
..Acrocapitofemoral Dysplasia (C564334)
..Acromesomelic dysplasia, Maroteaux type (C535661)
..Acromicric dysplasia (C535662) 1
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Angel shaped phalangoepiphyseal dysplasia (C536361)
..Baby Rattle Pelvis Dysplasia (C565282)
..Basal Cell Nevus Syndrome (D001478) 1
..Battaglia Neri syndrome (C537662)
..Bazopoulou Kyrkanidou syndrome (C537664)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Blount disease (C536237)
..Bone Dysplasia, Lethal, Holmgren Type (C565896)
..Brachioskeletogenital syndrome (C537084)
..Brachymesomelia renal syndrome (C537096)
..Brittle Bone Disorder (C565842)
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..CATSHL syndrome (C537975)
..Cervical Vertebral Dysplasia (C566140)
..Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..Craniolenticulosutural Dysplasia (C564332)
..Deafness conductive ptosis skeletal anomalies (C535993)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Diaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..Doughnut Lesions of Skull, Familial (C565089)
..Dwarfism (D004392) 155
..Dysostoses (D004413) 262
..Dysplasia epiphysealis hemimelica (C537997)
..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..Fountain syndrome (C537270)
..Fryns Hofkens Fabry syndrome (C538069)
..Funnel Chest (D005660) 4
..Gigantism (D005877) 1
..Gracile bone dysplasia (C537291)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hall Riggs mental retardation syndrome (C535623)
..Ischiopatellar dysplasia (C535540)
..Kantaputra Gorlin syndrome (C535547)
..KBG syndrome (C537015)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Kozlowski Warren Fisher syndrome (C537614)
..Kyphomelic dysplasia (C538128)
..Larsen syndrome, recessive type (C537874)
..Leg Length Inequality (D007870)
..Lenz Majewski hyperostotic dwarfism (C537115)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..Marfan Syndrome (D008382) 9
..Marshall-Smith syndrome (C536026)
..Membranous Cranial Ossification, Delayed (C563592)
..Mesomelic Dysplasia, Camera Type (C567503)
..Mesomelic Limb Shortening and Bowing (C565404)
..Mononen Karnes Senac syndrome (C535914)
..Osteochondrodysplasias (D010009) 367
..Osteofibrous Dysplasia (C563276)
..Osteolysis, Essential (D010015) 1
..Osteosclerosis with ichthyosis and premature ovarian failure (C536064)
..Patterson pseudoleprechaunism syndrome (C536310)
..Pectus Carinatum (D066166)
..Platybasia (D010985) 1
..Pointer syndrome (C536323)
..Prenatal Bowing (C564873)
..Proteus Syndrome (D016715) 1
..Radius absent anogenital anomalies (C535281)
..Rhizomelic dysplasia Patterson Lowry type (C537609)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..Rhizomelic syndrome (C537611)
..Roifman-Chitayat Syndrome (C567641)
..Santos Syndrome (C567819)
..Schwartz-Lelek syndrome (C537519)
..Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
..Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification (C566687)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..Spranger Schinzel Myers syndrome (C535801)
..Stoll Levy Francfort syndrome (C537498)
..Trichoodontoonychial Dysplasia (C564760)
..Ulna hypoplasia with mental retardation (C536934)
..Vertebral body fusion overgrowth (C536543)
..Weill-Marchesani Syndrome (D056846)
..Weismann Netter syndrome (C537082)
..Wiedemann Oldigs Oppermann syndrome (C536705)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

204

Name:

Acromesomelic dysplasia, Maroteaux type

Definition:

Alternative IDs:

OMIM:602875

ParentIDs:

MESH:D001848

TreeNumbers:

C05.116.099/C535661

Synonyms:

AMDM |ST. HELENA DYSPLASIA, INCLUDED

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C535661
MeSH: C535661
OMIM: 602875;

Genes: NPR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003086	Acromesomelia
3	HP:0004568	Beaking of vertebral bodies
4	HP:0001500	Broad finger
5	HP:0001230	Broad metacarpals
6	HP:0001783	Broad metatarsal
7	HP:0006009	Broad phalanx
8	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9	HP:0003498	Disproportionate short stature
10	HP:0003015	Flared metaphysis
11	HP:0002007	Frontal bossing
12	HP:0002984	Hypoplasia of the radius
13	HP:0001388	Joint laxity
14	HP:0001377	Limited elbow extension
15	HP:0001847	Long hallux
16	HP:0004633	Lower thoracic kyphosis
17	HP:0002938	Lumbar hyperlordosis
18	HP:0003300	Ovoid vertebral bodies
19	HP:0011220	Prominent forehead
20	HP:0002986	Radial bowing
21	HP:0007516	Redundant skin on fingers
22	HP:0010049	Short metacarpal
23	HP:0010743	Short metatarsal
24	HP:0001799	Short nail
25	HP:0003196	Short nose
26	HP:0009803	Short phalanx of finger
27	HP:0001831	Short toe
28	HP:0008484	Thoracolumbar interpediculate narrowness
29	HP:0005619	Thoracolumbar kyphosis

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_003995.3(NPR2):c.94C>A (p.Pro32Thr)	4882	NPR2	Pathogenic	28931581	RCV000019362;	N	MedGen:C1864356,OMIM:602875,ORPHA:40	9	35792499	35792499	NM_003995.3:c.94C>A	NP_003986.2:p.Pro32Thr	NC_000009.11:g.35792499C>A	OMIM Allelic Variant:108961.0001	C1864356 602875 Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.343T>G (p.Trp115Gly)	4882	NPR2	Pathogenic	28931582	RCV000019363;	N	MedGen:C1864356,OMIM:602875,ORPHA:40	9	35792748	35792748	NM_003995.3:c.343T>G	NP_003986.2:p.Trp115Gly	NC_000009.11:g.35792748T>G	OMIM Allelic Variant:108961.0002	C1864356 602875 Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.528T>A (p.Asp176Glu)	4882	NPR2	Pathogenic	28929479	RCV000019364;	N	MedGen:C1864356,OMIM:602875,ORPHA:40	9	35792933	35792933	NM_003995.3:c.528T>A	NP_003986.2:p.Asp176Glu	NC_000009.11:g.35792933T>A	OMIM Allelic Variant:108961.0003	C1864356 602875 Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter)	4882	NPR2	Pathogenic	121912739	RCV000019365;	N	MedGen:C1864356,OMIM:602875,ORPHA:40	9	35800424	35800424	NM_003995.3:c.1162C>T	NP_003986.2:p.Arg388Ter	NC_000009.11:g.35800424C>T	OMIM Allelic Variant:108961.0004	C1864356 602875 Acromesomelic dysplasia Maroteaux type