banner
Genes Phenotypes Help, News, Blog

Gene: Obp2a MGI:2387617

Log in to follow

Gene Summary

Name:
odorant binding protein 2A
Synonyms:
Lcn13

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 1.83×10-05
abnormal retina vasculature morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 4.32×10-05
persistence of hyaloid vascular system Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 5.18×10-05
abnormal coat/hair pigmentation Obp2atm1b(EUCOMM)Wtsi HOM Early adult 1.37×10-08
abnormal retina blood vessel morphology Obp2atm1b(EUCOMM)Wtsi HOM   Early adult 3.13×10-05
increased circulating cholesterol level Obp2atm1b(EUCOMM)Wtsi HOM Early adult 9.99×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

View images

Human diseases caused by Obp2a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Obp2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Dilution, Pigmentary
Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypo... OMIM:126070
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides OMIM:606574
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy OMIM:617087
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Woolly Hair
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... ORPHA:170
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, Iris coloboma, C... OMIM:601706
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... ORPHA:33445
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Elevated circulating ribitol concentration, Optic atrophy OMIM:608611
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Optic Atrophy 6
Optic atrophy OMIM:258500
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology... ORPHA:1021
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Spasticity, Childhood-Onset, With Hyperglycinemia
Hyperglycinemia, Optic atrophy OMIM:616859
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, ... ORPHA:231736
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... OMIM:203200
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Griscelli Syndrome Type 1
Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Hyperlipidemia, Partia... ORPHA:79476
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels OMIM:617082
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormal macular morphology, Premature graying of hair, Aganglionic ... ORPHA:897
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Peripheral axonal neuropathy, Hypercholesterolemia OMIM:607250
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Albinism, Oculocutaneous, Type Vi
Fair hair, Hypoplasia of the fovea, Generalized hypopigmentation OMIM:113750
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy OMIM:619389
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... OMIM:207750
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... OMIM:204100
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Camos Syndrome
Optic atrophy ORPHA:83472
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:613756
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail, Hypercholesterolemia ORPHA:181393
Waardenburg Syndrome, Type 4B
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:613265
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... OMIM:300476
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Merrf
Optic atrophy ORPHA:551
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hirsutism, Hypercholesterolemia OMIM:612526
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Waardenburg Syndrome Type 2
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, White forelock, Hyp... ORPHA:895
Brunet-Wagner Neurodevelopmental Syndrome
Thin eyebrow, Low anterior hairline, Optic atrophy OMIM:619690
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Oculocutaneous Albinism Type 1
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... ORPHA:352731
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Retinal neova... OMIM:193220
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor OMIM:613341
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Optic atrophy OMIM:204200
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Hypopigmented sk... ORPHA:2885
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Iris coloboma, Chorioretinal coloboma, Optic atrophy ORPHA:1473
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy OMIM:602271
Sclerosteosis
Fingernail dysplasia, Optic atrophy, Facial palsy ORPHA:3152
Aniridia 2
Iris coloboma, Aniridia, Optic atrophy OMIM:617141
Smith-Magenis Syndrome
Retinal detachment, Synophrys, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hyperlipoproteinemia, Type I
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... OMIM:238600
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Optic atrophy OMIM:619470
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Woods Syndrome
Optic atrophy, Frontal hirsutism, Supernumerary nipple, Broad nail, Hypoplastic fifth toenail OMIM:615236
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Optic disc hypoplasia, Optic nerve hypoplasia, Chorioretinal coloboma, Periphe... ORPHA:137902
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Joubert Syndrome 28
Optic disc pallor, Highly arched eyebrow, Pigmentary retinopathy OMIM:617121
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy OMIM:617086
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Steatorrhea, D... OMIM:615558
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Hypercholeste... OMIM:208920
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Waardenburg Syndrome, Type 4A
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:277580
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Abnormality of hair pigmentation, Elevated circulating m... OMIM:618156
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Wildervanck Syndrome
Low posterior hairline, Pseudopapilledema, Facial palsy ORPHA:3456
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615233
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy, Slow-growing hair OMIM:615722
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Abn... ORPHA:324737
Juvenile Paget Disease
Hyperuricemia, Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Piebaldism
Piebaldism, Aganglionic megacolon, Synophrys, White eyebrow, White eyelashes, Hypopigmented skin ... ORPHA:2884
Narp Syndrome
Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis... ORPHA:644
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Waardenburg Syndrome Type 1
Premature graying of hair, Aganglionic megacolon, Synophrys, White eyelashes, White eyebrow, Hypo... ORPHA:894
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Optic atrophy, Brittle hair, Woolly hair, Nail dysplasia, Conca... OMIM:234050
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Motor axonal neuropathy, Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction vel... ORPHA:457205
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Hsd10 Mitochondrial Disease
Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic atrophy OMIM:300438
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Abnormality of skin pigmentation, Hypoplas... ORPHA:2457
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Hypercholesterolemia ORPHA:77296
Triple A Syndrome
Iris coloboma, Generalized hyperpigmentation, Optic atrophy, Motor axonal neuropathy ORPHA:869
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Low posterior hairline, Hypertriglyceridemia, Hy... ORPHA:528
Cog4-Cdg
Thick hair, Hypercholesterolemia ORPHA:263501
Smith-Magenis Syndrome
Retinal detachment, Synophrys, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Optic disc pallor, Long eyelashes OMIM:617276
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Papilledema, Retinal vascular tortuosity, Hypercholesterolemia OMIM:619471
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:791
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... OMIM:172800
Zika Virus Disease
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... ORPHA:448237
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Hypercholesterolemia ORPHA:401923
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... ORPHA:1215
Late-Onset Retinal Degeneration
Peripapillary atrophy, Iris transillumination defect, Macular degeneration, Choroidal neovascular... ORPHA:67042
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Synophrys, Broad nail, Hirsutism, Fundus atrophy, Thick eyebrow ORPHA:1970
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... OMIM:609033
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, Hypoplasia of the fovea, Blue irides, White ... OMIM:203100
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... OMIM:277460
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atrophy, Attenuatio... OMIM:619260
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, Hypercholester... ORPHA:363618
Multiple Carboxylase Deficiency
Alopecia, Hyperammonemia, Optic atrophy ORPHA:148
Laron Syndrome
Hypercholesterolemia ORPHA:633
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Decreased serum iron, Epiretinal membrane, P... OMIM:616959
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hyperlipidemia, Parti... ORPHA:79477
Incontinentia Pigmenti
Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Abnormality of skin pigmentation, Retina... OMIM:308300
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:616562
Optic Pathway Glioma
Papilledema, Neurofibromas, Optic atrophy ORPHA:2086
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Schindler Disease, Type I
Optic atrophy OMIM:609241
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Abnormality of skin pigmentation, Coloboma, Optic atrophy OMIM:612379
Infantile Refsum Disease
Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Optic atrophy, Facial palsy ORPHA:772
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy OMIM:249270
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy OMIM:268315
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Pheochromocytoma, Schwannoma, Freckling, Hir... OMIM:160980
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Small nail, Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy OMIM:300578
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Hypoplasi... OMIM:619172
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... ORPHA:91495
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Leukodystrophy, Progressive, Early Childhood-Onset
Thick eyebrow, Optic disc pallor OMIM:617762
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Decreased nerve conduction velocity OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Leber Congenital Amaurosis 15
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... OMIM:613843
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:216866
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic neuropathy, Optic disc pallor, Optic atrophy OMIM:618249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... OMIM:614643
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Optic disc pallor, O... OMIM:601152
Megalocornea-Mental Retardation Syndrome
Low anterior hairline, Hypercholesterolemia OMIM:249310
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Mandibuloacral Dysplasia With Type A Lipodystrophy
Mottled pigmentation, Alopecia, Sparse scalp hair, Calcinosis, Onychogryposis, Hyperlipidemia, Hy... OMIM:248370
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Achalasia-Addisonianism-Alacrima Syndrome
Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology, Decreased c... OMIM:231550
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Agangli... ORPHA:3440
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Iris coloboma, Freck... ORPHA:3214
Hermansky-Pudlak Syndrome 8
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Silver-gr... OMIM:614077
Lipodystrophy, Familial Partial, Type 2
Enlarged peripheral nerve, Hirsutism, Decreased HDL cholesterol concentration, Hypercholesterolem... OMIM:151660
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... ORPHA:585
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Retinopathy, Axonal degeneration, Optic atrophy OMIM:616811
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Aplasia/Hypoplasia of the nails ORPHA:2714
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormal retinal vascular morphology, Optic atrophy, Abnormality of r... ORPHA:2715
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Iris hypopigmentation, White eyela... OMIM:611584
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Optic atrophy, Elevated circulating ... ORPHA:96180
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Elevated circulating creatin... ORPHA:247691
Pierson Syndrome
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Posterior lenticonus, Hypopi... OMIM:609049
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Iris coloboma, Optic atrophy OMIM:615219
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Retinal fold, Remnants of the hyaloid vascular system OMIM:221900
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... ORPHA:3205
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Hyperpigmentation of the... ORPHA:637
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Mildly elevated creatine kinase, Conjunctival telangiectasia, Optic atrophy, Elevated circulating... ORPHA:95433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Pigmentary retinopathy, Optic atrophy, Elevated circulating creatine kinase co... OMIM:613154
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Norrie Disease
Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia, Decreased circulating cortisol level OMIM:609734
Waardenburg Syndrome, Type 4C
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:613266
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Alopecia totalis, Elevated circulating creatine kinase concentration OMIM:618775
Xeroderma Pigmentosum, Complementation Group B
Freckling, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy OMIM:610651
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... OMIM:214500
Autosomal Dominant Hypocalcemia
Alopecia, Hyperphosphatemia, Irregular hyperpigmentation, Optic atrophy, Abnormality of the nail,... ORPHA:428
Brittle Cornea Syndrome
Retinal detachment, Abnormality of hair pigmentation ORPHA:90354
Idiopathic Anterior Uveitis
Macular edema, Increased cup-to-disc ratio ORPHA:280914
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypercholesterolemia, Orthostatic hypotension, Hypertriglyceridemia, Sparse ha... OMIM:606721
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Congenital stationary night blindness, Hirsutism, Highly arched e... ORPHA:293967
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Sparse scalp hair, Hyponatremia, Generalized hypopigmentation, Hypophosphatem... ORPHA:534
Alagille Syndrome 1
Chorioretinal atrophy, Hypertriglyceridemia, Pigmentary retinopathy, Hypercholesterolemia OMIM:118450
Wolfram Syndrome 2
Optic neuropathy, Optic atrophy OMIM:604928
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Biotinidase Deficiency
Alopecia, Hyperammonemia, Optic atrophy OMIM:253260
Hyperoxaluria, Primary, Type I
Retinopathy, Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Hyp... OMIM:259900
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Chédiak-Higashi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... ORPHA:167
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Rod-cone dystrophy, Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Onychogryposis, Optic nerve hypoplasia OMIM:603671
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... ORPHA:3322
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papilledema OMIM:127000
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia ORPHA:391665
Peroxisome Biogenesis Disorder 1B
Rod-cone dystrophy, Hyperoxaluria, Optic atrophy OMIM:601539
Phace Association
Horner syndrome, Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia OMIM:606519
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Albinism, Macular atrophy, Ele... OMIM:242840
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Duane Retraction Syndrome
Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Optic disc h... ORPHA:233
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Ramon Syndrome
Hypertrichosis, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Steinert Myotonic Dystrophy
Alopecia, Facial diplegia, Peripheral axonal neuropathy, Hypercholesterolemia, Early balding ORPHA:273
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Optic atrophy, Generalized hypopigmentation, Azotemia, Retinal dystrophy, Optic nerve h... OMIM:619321
Neuroocular Syndrome
Brushfield spots, Small nail, Brittle hair, Synophrys, Long eyelashes, Lens coloboma, Remnants of... OMIM:619539
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation ORPHA:398079
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelia... OMIM:219800
Cancer-Associated Retinopathy
Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V... ORPHA:71505
Syndromic Diarrhea
Trichorrhexis nodosa, Cafe-au-lait spot, Abnormality of iron homeostasis, Generalized hypopigment... ORPHA:84064
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Iris coloboma, Hy... ORPHA:508498
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Hypopigmented skin... ORPHA:163746
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation ORPHA:398069
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits, Supernumerary nipple ORPHA:397715
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... OMIM:309000
7Q11.23 Microduplication Syndrome
Horizontal eyebrow, Cafe-au-lait spot, Abnormal optic disc morphology, Sparse anterior scalp hair... ORPHA:96121
Smith-Lemli-Opitz Syndrome
Optic atrophy, Aganglionic megacolon, Hypopigmentation of hair, Iris coloboma, Abnormal eyelash m... ORPHA:818
Microphthalmia, Syndromic 2
Laterally curved eyebrow, Iris coloboma, Remnants of the hyaloid vascular system, Retinal detachm... OMIM:300166
Prader-Willi Syndrome
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... OMIM:176270
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Retina... ORPHA:649
Biliary, Renal, Neurologic, And Skeletal Syndrome
Coloboma, Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia,... OMIM:619534
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398073
Degcags Syndrome
Hypopigmentation of the skin, Abnormal eyebrow morphology, Abnormality of skin pigmentation, Prem... OMIM:619488
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia ORPHA:280651
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Obp2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Obp2a.

No publications found that use IMPC mice or data for Obp2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Obp2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Obp2atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Obp2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Obp2atm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter