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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: Microphthalmos (D008850)
..Starting node ..Nanophthalmos 2 (C563700)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Anophthalmia with pulmonary hypoplasia (C537768)
..Arhinia, choanal atresia, and microphthalmia (C537429)
..Aughton syndrome (C538269)
..Behrens Baumann Dust syndrome (C537670)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
..Duker Weiss Siber syndrome (C535719)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Ghose Sachdev Kumar syndrome (C537803)
..GOMBO syndrome (C537284)
..Hittner Hirsch Kreh syndrome (C538323)
..Holoprosencephaly 10 (C567278)
..Kaplowitz Bodurtha syndrome (C536893)
..Macrosomia with lethal microphthalmia (C537830)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..Microcornea corectopia macular hypoplasia (C537551)
..Microgastria limb reduction defect (C537554)
..Microphthalmia and mental deficiency (C537462)
..Microphthalmia associated with colobomatous cyst (C537463)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
..Microphthalmia, Isolated 1 (C565377)
..Microphthalmia, Isolated 2 (C566446)
..Microphthalmia, Isolated 3 (C567025)
..Microphthalmia, Isolated 4 (C567757)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
..MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
..Microphthalmia, Isolated, with Cataract 1 (C563582)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Microphthalmia, Isolated, with Cataract 3 (C564452)
..Microphthalmia, Isolated, with Cataract 4 (C566480)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, Isolated, with Coloboma 2 (C565300)
..Microphthalmia, Isolated, with Coloboma 3 (C566447)
..Microphthalmia, Isolated, with Coloboma 4 (C565378)
..Microphthalmia, Isolated, with Coloboma 5 (C566899)
..MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Microphthalmia, syndromic 1 (C537464)
..Microphthalmia, Syndromic 10 (C566985)
..Microphthalmia, syndromic 2 (C537465)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 4 (C564457)
..Microphthalmia, Syndromic 5 (C566441)
..Microphthalmia, Syndromic 6 (C566440)
..Microphthalmia, syndromic 7 (C537466)
..Nanophthalmos 1 (C563983)
..Nanophthalmos 2 (C563700)
..Nanophthalmos 3 (C567498)
..Oculodentoosseous dysplasia recessive (C537733)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..Thomas Jewett Raines syndrome (C536513)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7766

Name:

Nanophthalmos 2

Definition:

Alternative IDs:

OMIM:609549

ParentIDs:

MESH:D008850

TreeNumbers:

C11.250.566/C563700 |C16.131.384.666/C563700

Synonyms:

Nanophthalmia 2 |Nanophthalmos, Autosomal Recessive |NNO2

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C563700
MeSH: C563700
OMIM: 609549;

Genes: MFRP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000568	Microphthalmia

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_031433.3(MFRP):c.1150dupC (p.His384Profs)	-1	-	Pathogenic	587776595	RCV000004731; RCV000161910;	N	MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279	11	119213688	119213688	NM_031433.3:c.1150dupC	NP_113621.1:p.His384Profs		OMIM Allelic Variant:606227.0001	C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2
NM_031433.3(MFRP):c.545T>C (p.Ile182Thr)	-1	-	Pathogenic	121908190	RCV000004734;	N	MedGen:C1836006,OMIM:609549	11	119216226	119216226	NM_031433.3:c.545T>C	NP_113621.1:p.Ile182Thr	NC_000011.9:g.119216226A>G	OMIM Allelic Variant:606227.0004	C1836006 609549 Nanophthalmos 2
NM_031433.3(MFRP):c.523C>T (p.Gln175Ter)	-1	-	Pathogenic	121908189	RCV000004732;	N	MedGen:C1836006,OMIM:609549	11	119216248	119216248	NM_031433.3:c.523C>T	NP_113621.1:p.Gln175Ter	NC_000011.9:g.119216248G>A	OMIM Allelic Variant:606227.0002	C1836006 609549 Nanophthalmos 2
NM_031433.3(MFRP):c.498delC (p.Asn167Thrfs)	-1	-	Pathogenic	587776596	RCV000004733; RCV000161911;	N	MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279	11	119216273	119216273	NM_031433.3:c.498delC	NP_113621.1:p.Asn167Thrfs	NC_000011.9:g.119216273delG	OMIM Allelic Variant:606227.0003	C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2