OMIA group 540

Hypotrichosis, generic

The chain reaches the human disease hypotrichosis 2, which Mondo defines as: “Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.” It reaches 6 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 12 species entries marked as a defect.
Human disease

Reached

7 Mondo diseases.
Human gene

Stopped here

No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
Target evidence

Not reached

The chain stopped before this step.
Drugs

Not reached

The chain stopped before this step.

The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

hypotrichosis 2

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

hypotrichosis 4

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

metaphyseal dysplasia without hypotrichosis

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

oculoosteocutaneous syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
American mink	Neogale vison	OMIA:000540-452646	Yes
dog	Canis lupus familiaris	OMIA:000540-9615	Yes
domestic cat	Felis catus	OMIA:000540-9685	Yes
domestic cattle	Bos taurus	OMIA:000540-9913	Yes
domestic guinea pig	Cavia porcellus	OMIA:000540-10141	Yes
golden hamster	Mesocricetus auratus	OMIA:000540-10036	Yes
macaques	Macaca	OMIA:000540-9539	Yes
meadow voles	Microtus	OMIA:000540-10053	Yes
Mongolian gerbil	Meriones unguiculatus	OMIA:000540-10047	Yes
pig	Sus scrofa	OMIA:000540-9823	Yes
rabbit	Oryctolagus cuniculus	OMIA:000540-9986	Yes
sheep	Ovis aries	OMIA:000540-9940	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene
American mink	No gene	OMIA records no gene for this species entry.
dog	No gene	OMIA records no gene for this species entry.
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
domestic guinea pig	No gene	OMIA records no gene for this species entry.
golden hamster	No gene	OMIA records no gene for this species entry.
macaques	No gene	OMIA records no gene for this species entry.
meadow voles	No gene	OMIA records no gene for this species entry.
Mongolian gerbil	No gene	OMIA records no gene for this species entry.
pig	No gene	OMIA records no gene for this species entry.
rabbit	No gene	OMIA records no gene for this species entry.
sheep	No gene	OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0007805	hypotrichosis 2 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.	OMIA's OMIM numbers
MONDO:0100522	hypotrichosis 4	OMIA's OMIM numbers
MONDO:0009522	leukomelanoderma, infantilism, impaired intellectual development, hypodontia, hypotrichosis A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	OMIA's OMIM numbers
MONDO:0009601	metaphyseal dysplasia without hypotrichosis	OMIA's OMIM numbers
MONDO:0008884	oculoosteocutaneous syndrome A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	OMIA's OMIM numbers
MONDO:0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	OMIA's OMIM numbers
MONDO:0010207	wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.