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

Disease Browser
Parent Node: Bone Diseases (D001847)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Joint Diseases (D007592)
..Starting node ..Osteoarthropathy, Primary Hypertrophic (D010004)
Child Nodes:
........HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
........Reginato Schiapachasse syndrome (C535519)
Sister Nodes:
..Ankylosis (D000844) 10
..Arthralgia (D018771) 1
..Arthritis (D001168) 57
..Arthrogryposis (D001176) 55
..Arthropathy, Neurogenic (D001177) 3
..Borrone Di Rocco Crovato syndrome (C536577)
..Brachydactylous dwarfism Mseleni type (C537086)
..Bursitis (D002062) 1
..Calcification of Joints and Arteries (C565891)
..Chondromatosis, Synovial (D015838) 1
..Contracture (D003286) 41
..Coracoclavicular Joint, Anomalous (C565161)
..Cushing's symphalangism (C536223)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Femoracetabular Impingement (D057925)
..Flynn Aird syndrome (C537066)
..GEMSS syndrome (C537679)
..Growth mental deficiency syndrome of Myhre (C537620)
..Hallux Limitus (D020857)
..Hallux Rigidus (D020859)
..Hemarthrosis (D006395)
..Hip Dysplasia, Beukes Type (C564185)
..Hydrarthrosis (D006833)
..Joint Deformities, Acquired (D016916)
..Joint Instability (D007593) 17
..Joint Loose Bodies (D007594)
..Laplane Fontaine Lagardere syndrome (C537869)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Leri pleonosteosis (C537118)
..Metatarsalgia (D037061)
..Morillo-Cucci Passarge syndrome (C536983)
..Nail-Patella Syndrome (D009261) 1
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Patellofemoral Pain Syndrome (D046788)
..Pfeiffer Palm Teller syndrome (C537889)
..Short stature and locking fingers (C537603)
..Shoulder Impingement Syndrome (D019534)
..Synovitis (D013585) 5
..Temporomandibular Joint Disorders (D013705) 2
..Thai Symphalangism Syndrome (C564303)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8376

Name:

Osteoarthropathy, Primary Hypertrophic

Definition:

A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists.

Alternative IDs:

OMIM:119900

ParentIDs:

MESH:D001847|MESH:D007592|MESH:D030342

TreeNumbers:

C05.116.725 |C05.550.648 |C16.320.718

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: D010004
MeSH: D010004
OMIM: 119900;

Genes: HPGD;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0001217	Clubbing

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_000860.5(HPGD):c.577T>C (p.Ser193Pro)	3248	HPGD	Pathogenic	121434481	RCV000008382;	N	MedGen:C1861514,OMIM:119900	4	175414387	175414387	NM_000860.5:c.577T>C	NP_000851.2:p.Ser193Pro	NC_000004.11:g.175414387A>G	OMIM Allelic Variant:601688.0004	C1861514 119900 Digital clubbing, isolated congenital