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Gene: Obp2a MGI:2387617

Gene Summary

Name:

odorant binding protein 2A

Synonyms:

Lcn13

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal retina blood vessel morphology	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.13×10^-05
abnormal coat/hair pigmentation	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.37×10^-08
increased circulating cholesterol level	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.99×10^-05
abnormal retina vasculature morphology	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.32×10^-05
abnormal optic disk morphology	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.83×10^-05
persistence of hyaloid vascular system	Obp2a^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.18×10^-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Immunophenotyping

Panel B FCS file(s)

5 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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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.

Human diseases associated with Obp2a (0 diseases)
Human diseases predicted to be associated with Obp2a (481 diseases)

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	Matching phenotypes	Source
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, 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	Optic atrophy, Attenuation of retinal blood vessels	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 9	Optic disc pallor, Optic atrophy	OMIM:616289
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali...	ORPHA:170
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy	OMIM:618511
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:165300
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, Chorioretinal co...	OMIM:601706
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Ribose 5-Phosphate Isomerase Deficiency	Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentration	OMIM:608611
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Optic Atrophy 6	Optic atrophy	OMIM:258500
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy, Hyperglycinemia	OMIM:616859
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism	ORPHA:2786
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi...	ORPHA:79476
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels	OMIM:617082
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Agang...	ORPHA:897
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607250
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy	OMIM:611726
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Vogt-Koyanagi-Harada Disease	Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash mo...	ORPHA:3437
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	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 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Camos Syndrome	Optic atrophy	ORPHA:83472
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	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	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Waardenburg Syndrome, Type 4B	White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P...	OMIM:613265
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Striatonigral Degeneration, Infantile	Optic atrophy	OMIM:271930
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Merrf	Optic atrophy	ORPHA:551
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism	OMIM:612526
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy	OMIM:620312
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:204200
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
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
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Intellectual Developmental Disorder, X-Linked 104	Frontal upsweep of hair, Optic atrophy	OMIM:300983
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Brunet-Wagner Neurodevelopmental Syndrome	Optic atrophy, Low anterior hairline, Thin eyebrow	OMIM:619690
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy	OMIM:619303
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Smith-Magenis Syndrome	Retinal detachment, Synophrys, Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy	ORPHA:1171
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy	OMIM:617207
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Aniridia 2	Aniridia, Optic atrophy, Iris coloboma	OMIM:617141
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma	ORPHA:1473
Sclerosteosis	Fingernail dysplasia, Optic atrophy, Facial palsy	ORPHA:3152
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy	OMIM:616171
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy	OMIM:619052
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Small nail	OMIM:619470
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Woods Syndrome	Supernumerary nipple, Optic atrophy, Broad nail, Hypoplastic fifth toenail, Frontal hirsutism	OMIM:615236
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor	OMIM:616732
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Optic atrophy	OMIM:617086
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	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
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num...	OMIM:208920
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Waardenburg Syndrome, Type 4A	White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P...	OMIM:277580
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Decreased LDL cholesterol c...	OMIM:618156
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Wildervanck Syndrome	Pseudopapilledema, Facial palsy, Low posterior hairline	ORPHA:3456
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Srd5A3-Cdg	Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Spotty hyperpigmentatio...	ORPHA:324737
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus	ORPHA:2801
Piebaldism	Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba...	ORPHA:2884
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy, Long eyelashes	OMIM:617276
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Sarcosinemia	Hypersarcosinemia, Optic atrophy	ORPHA:3129
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo...	ORPHA:894
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration	OMIM:300438
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Optic atrophy, Nail dy...	OMIM:234050
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Hirsutism	ORPHA:77296
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy	OMIM:500001
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud...	ORPHA:457205
Cog4-Cdg	Hypercholesterolemia, Thick hair	ORPHA:263501
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Optic disc pallor, Hyperprolinemia	OMIM:619170
Smith-Magenis Syndrome	Retinal detachment, Synophrys, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ...	ORPHA:2457
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, H...	ORPHA:528
Triple A Syndrome	Generalized hyperpigmentation, Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Hypercholesterolemia	OMIM:619471
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Piebald Trait	Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh...	OMIM:172800
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Thick hair, Highly arched eyebrow	ORPHA:401923
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Thick eyebrow, Fundus atrophy, Synophrys, Optic atrophy, Broad nail, Hirsutism	ORPHA:1970
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Pulmonary carcinoid tumor, Premature gray...	ORPHA:363618
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra...	OMIM:619260
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy	OMIM:609541
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Ridged nail, Alopecia, Supernumerary nipple, Retinal...	OMIM:308300
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Optic Pathway Glioma	Papilledema, Neurofibroma, Optic atrophy	ORPHA:2086
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Obesity And Hypopigmentation	Red hair	OMIM:620195
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Coloboma, Optic atrophy, Hypertrichosis	OMIM:612379
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Facial palsy, Elevated circulating phytanic acid concentration	ORPHA:772
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline	OMIM:617523
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration	OMIM:249270
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail	OMIM:610644
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Carney Complex, Type 1	Schwannoma, Pheochromocytoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin le...	OMIM:160980
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy	OMIM:618800
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Hyperpigmentation of the skin, Opt...	OMIM:231550
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy	OMIM:612674
Mitochondrial Complex I Deficiency, Nuclear Type 28	Hyperalaninemia, Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor, Thick eyebrow	OMIM:617762
Neuhauser Syndrome	Hypercholesterolemia, Low anterior hairline	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	Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia, Mottled pigmentati...	OMIM:248370
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu...	OMIM:611584
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Iri...	ORPHA:3214
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Enlarged per...	OMIM:151660
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy	OMIM:616811
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Blue iri...	OMIM:614077
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Abnormality of peripheral nerve ...	ORPHA:585
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Aplasia/Hypoplasia of the nails	ORPHA:2714
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease...	ORPHA:96180
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro...	ORPHA:3205
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co...	OMIM:613154
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating...	ORPHA:95433
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomag...	ORPHA:428
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy	ORPHA:504476
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Waardenburg Syndrome, Type 4C	White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P...	OMIM:613266
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Papilledema, Elevated circulating creatine kinase concentration	OMIM:618775
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy	OMIM:610651
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,...	OMIM:214500
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Brittle Cornea Syndrome	Retinal detachment, Abnormality of hair pigmentation	ORPHA:90354
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Hypertriglyceridemia, Pigmentary retinopathy, Sparse ...	OMIM:606721
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypoammonemia, Chorioretinal dysplasia, Fine hair, Hypokalemia, ...	ORPHA:534
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Hirsutism, Highly arched e...	ORPHA:293967
Alagille Syndrome 1	Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia	OMIM:118450
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Biotinidase Deficiency	Alopecia, Optic atrophy, Hyperammonemia	OMIM:253260
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Rod-cone dystrophy, Optic atrophy	OMIM:601539
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypertriglycerid...	ORPHA:167
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Onychogryposis	OMIM:603671
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne...	ORPHA:79430
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Phace Association	Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Macular atrophy, Al...	OMIM:242840
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Hypopigmented skin...	ORPHA:233
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system	OMIM:620185
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Neuroocular Syndrome	Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eye...	OMIM:619539
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Steinert Myotonic Dystrophy	Alopecia, Peripheral axonal neuropathy, Early balding, Facial diplegia, Hypercholesterolemia	ORPHA:273
Oculocerebral Hypopigmentation Syndrome, Cross Type	Choroideremia, Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation	ORPHA:2719
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Azotemia, Generalized hypopig...	OMIM:619321
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ...	ORPHA:84064
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial ...	OMIM:219800
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, Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin ...	ORPHA:163746
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple	ORPHA:397715
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Optic atrophy, Elev...	ORPHA:818
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Laterally curved eyebrow, Iris colob...	OMIM:300166
7Q11.23 Microduplication Syndrome	Sparse anterior scalp hair, Abnormal optic disc morphology, Long eyelashes, Horizontal eyebrow, C...	ORPHA:96121
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of 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.

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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.

MGI Allele	Allele Type	Produced
Obp2a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Obp2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Obp2a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Obp2a^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Obp2a MGI:2387617

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Obp2a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data