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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: Dwarfism (D004392)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Gerodermia osteodysplastica (C537799)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4580

Name:

Gerodermia osteodysplastica

Definition:

Alternative IDs:

OMIM:231070

ParentIDs:

MESH:D001847|MESH:D004392|MESH:D012873

TreeNumbers:

C05.116.099.343/C537799 |C05.116/C537799 |C16.320.240/C537799 |C16.320.850/C537799 |C17.800.827/C537799 |C19.297/C537799

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: C537799
MeSH: C537799
OMIM: 231070;

Genes: GORAB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004568	Beaking of vertebral bodies
3	HP:0004586	Biconcave vertebral bodies
4	HP:0012385	Camptodactyly
5	HP:0000973	Cutis laxa
6	HP:0000490	Deeply set eye
7	HP:0000750	Delayed speech and language development
8	HP:0002980	Femoral bowing
9	HP:0001187	Hyperextensibility of the finger joints
10	HP:0000327	Hypoplasia of the maxilla
11	HP:0001249	Intellectual disability
12	HP:0003301	Irregular vertebral endplates
13	HP:0000272	Malar flattening
14	HP:0000303	Mandibular prognathia
15	HP:0000252	Microcephaly
16	HP:0000938	Osteopenia
17	HP:0000939	Osteoporosis
18	HP:0000704	Periodontitis
19	HP:0000926	Platyspondyly
20	HP:0002757	Recurrent fractures
21	HP:0003510	Severe short stature
22	HP:0002982	Tibial bowing
23	HP:0002953	Vertebral compression fracture
24	HP:0002645	Wormian bones

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_152281.2(GORAB):c.442G>T (p.Glu148Ter)	92344	GORAB	Pathogenic	119455951	RCV000002769;	N	MedGen:C0432255,OMIM:231070,ORPHA:2078,SNOMED CT:254116003	1	170508656	170508656	NM_152281.2:c.442G>T	NP_689494.2:p.Glu148Ter	NC_000001.10:g.170508656G>T	OMIM Allelic Variant:607983.0001	C0432255 231070 Geroderma osteodysplastica
NM_152281.2(GORAB):c.733G>C (p.Ala245Pro)	92344	GORAB	Pathogenic	183596463	RCV000202357;	N	MedGen:C0432255,OMIM:231070,ORPHA:2078,SNOMED CT:254116003	1	170513982	170513982	NM_152281.2:c.733G>C	NP_689494.2:p.Ala245Pro	NC_000001.10:g.170513982G>C	OMIM Allelic Variant:607983.0006	C0432255 231070 Geroderma osteodysplastica
NM_152281.2(GORAB):c.859C>T (p.Arg287Ter)	92344	GORAB	Pathogenic	119455952	RCV000002771;	N	MedGen:C0432255,OMIM:231070,ORPHA:2078,SNOMED CT:254116003	1	170521277	170521277	NM_152281.2:c.859C>T	NP_689494.2:p.Arg287Ter	NC_000001.10:g.170521277C>T	OMIM Allelic Variant:607983.0003	C0432255 231070 Geroderma osteodysplastica