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Gene: Vldlr MGI:98935

Gene Summary

Name:

very low density lipoprotein receptor

Synonyms:

N/A

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
enlarged heart	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Vldlr^em1(IMPC)Mbp	HOM	Early adult	3.06×10^-12
blind uterus	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased thigmotaxis	Vldlr^em1(IMPC)Mbp	HOM	Early adult	4.50×10^-09
abnormal spleen morphology	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Vldlr^em1(IMPC)Mbp	HOM	Early adult	4.94×10^-09
decreased anxiety-related response	Vldlr^em1(IMPC)Mbp	HOM	Early adult	1.53×10^-08
increased exploration in new environment	Vldlr^em1(IMPC)Mbp	HOM	Early adult	2.77×10^-06
abnormal heart morphology	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Lateral Orientation

37 Images

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X-ray

XRay Images Whole Body Dorso Ventral

75 Images

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Human diseases caused by Vldlr 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 Vldlr (2 diseases)
Human diseases predicted to be associated with Vldlr (1139 diseases)

The table below shows human diseases associated to Vldlr by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1		Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy	OMIM:224050
Dysequilibrium Syndrome			ORPHA:1766

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

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:108725
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:604091
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Eales Disease	Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Neurodegeneration, Pigmentary r...	OMIM:610951
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Corticospinal tract atrophy	OMIM:551500
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:609923
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Cone-Rod Dystrophy 22	Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels...	OMIM:619531
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen	OMIM:136550
Retinitis Pigmentosa 29	Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612165
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnorm...	OMIM:251270
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar vermis atrophy, Cerebellar atrophy, Corpus callosum atrophy, Retinal pigment epithelia...	OMIM:619389
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration, Increased neuronal autofluorescent lipopigment	OMIM:601780
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity, Short attention span	OMIM:608443
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short attention span	DECIPHER:19
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy	OMIM:600790
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy	OMIM:619090
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Sudden cardiac death...	OMIM:610947
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Exudative Vitreoretinopathy 5	Falciform retinal fold, Tractional retinal detachment, Exudative vitreoretinopathy, Retinal exudate	OMIM:613310
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane	OMIM:620253
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Left ventricular systolic dysfunction, Photoreceptor layer loss on macular OCT,...	OMIM:145350
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Coats Disease	Retinal detachment, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal...	ORPHA:190
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia	OMIM:617294
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions	ORPHA:99000
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Cerebral atrophy, Abnormality of retinal pigmentation	ORPHA:397951
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Increased...	OMIM:204500
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Retinitis Pigmentosa 26	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor	OMIM:608380
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Neovascular Glaucoma	Retinal detachment, Retinal vascular proliferation, Rubeosis iridis, Abnormal optic nerve morphol...	ORPHA:94058
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy	OMIM:611809
Parc Syndrome	Alopecia, Absent eyelashes, Absent eyebrow	OMIM:600331
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 44	Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613769
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Schizophrenia 15	Hyperactivity	OMIM:613950
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal vascular morphology, Retinop...	ORPHA:90050
Usher Syndrome, Type Iiib	Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy	OMIM:614504
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar...	ORPHA:189
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal neovascularization, Hypertension, Retinal cotton wool spot, ...	ORPHA:247691
Narp Syndrome	Corticospinal tract atrophy, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Rod-...	ORPHA:644
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Pigmentary retinopathy	ORPHA:3363
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
8p23.1 deletion syndrome	Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect, Cr...	DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Retinal degeneration, Bradycardia	OMIM:617173
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Retinitis Pigmentosa 20	Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613794
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Ethanolaminosis	Cardiomegaly	OMIM:227150
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta...	ORPHA:816
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Pandas	Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:613660
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
L-Ferritin Deficiency	Alopecia	OMIM:615604
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor...	ORPHA:897
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Stickler Syndrome Type 2	Retinal detachment, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A...	ORPHA:436274
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Distal Myopathy, Tateyama Type	Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hypertension	ORPHA:71529
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair	ORPHA:1008
Ramon Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin	ORPHA:3019
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore...	OMIM:601813
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Pigmentary...	OMIM:618234
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Cone-Rod Dystrophy, X-Linked, 3	Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r...	OMIM:300476
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ...	ORPHA:2889
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Cerebellar atrophy	OMIM:613402
Hypotrichosis 5	Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th...	OMIM:612841
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Crandall Syndrome	Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia	ORPHA:202
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia...	OMIM:619868
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ...	OMIM:615558
Kerion Celsi	Alopecia	ORPHA:499
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Chudley-Mccullough Syndrome	Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Coloboma Of Macula	Macular coloboma	OMIM:120300
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis	OMIM:302000
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Cerebellar atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Brain atrophy, Pigmentary retinopathy	OMIM:619059
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy	OMIM:615981
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, Iris coloboma	OMIM:610202
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia	OMIM:615771
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Ectodermal Dysplasia 7, Hair/Nail Type	Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse...	OMIM:614929
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia...	OMIM:615812
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cerebellar atrophy	ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability	Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy	ORPHA:370968
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:607616
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti...	OMIM:615986
Glycine Encephalopathy 1	Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior	OMIM:605899
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hypertension	OMIM:613877
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Flynn-Aird Syndrome	Alopecia of scalp, Rod-cone dystrophy, Alopecia	OMIM:136300
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina	ORPHA:100996
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:2518
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S...	OMIM:129500
Ectopia Lentis Et Pupillae	Retinal detachment, Iris transillumination defect, Persistent pupillary membrane, Ectopia pupillae	OMIM:225200
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability	OMIM:234500
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinopathy	ORPHA:329336
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,...	ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai...	OMIM:613573
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hypertension	ORPHA:280356
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper...	ORPHA:2481
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic ...	OMIM:252920
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs...	ORPHA:448237
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma	OMIM:616722
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernail dysplasia, Alopecia	ORPHA:2251
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge...	ORPHA:2325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy	OMIM:613156
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Facial palsy, Retinal coloboma	OMIM:107550
Retinitis Pigmentosa 23	Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e...	OMIM:300424
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc...	ORPHA:2890
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hypertension	OMIM:608600
Quinquaud Folliculitis Decalvans	Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp	ORPHA:346
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hypertension	OMIM:615238
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy, Retinal degeneration, Optic disc pa...	ORPHA:79264
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia	ORPHA:324416
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy	OMIM:605808
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia	ORPHA:1882
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:129
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Congenital Disorder Of Glycosylation, Type Iio	Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype...	OMIM:616828
Morm Syndrome	Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Porphyria Cutanea Tarda	Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder, Patent foramen ovale	OMIM:617182
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Cerebral cortical atrophy, Abnormality of retinal pi...	ORPHA:1493
Leigh Syndrome	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Hypertension, Telangiectasia	OMIM:219250
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy, Iris coloboma	OMIM:212550
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia	OMIM:104100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Abnormal sensory nerve conduction v...	ORPHA:88628
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	OMIM:205400
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Lennox-Gastaut Syndrome	Hyperactivity, Irritability, Mental deterioration, Aggressive behavior	ORPHA:2382
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Landau-Kleffner Syndrome	Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention span, Impulsivi...	ORPHA:98818
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Retinal detachment, Ciliary body melanoma, Iris melanoma, ...	ORPHA:39044
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli...	ORPHA:567548
Antiphospholipid Syndrome, Familial	Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis	OMIM:107320
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis	ORPHA:700
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Phenylketonuria	Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di...	OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	OMIM:619927
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr...	ORPHA:247598
Microphthalmia, Isolated 8	Retinal detachment, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma	OMIM:615113
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Juvenile Huntington Disease	Hyperactivity, Cerebellar vermis atrophy, Cerebellar atrophy, Dementia	ORPHA:248111
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H...	ORPHA:86816
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hyperuricemia	OMIM:604367
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	ORPHA:585
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Alopecia totalis	OMIM:212360
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact...	OMIM:619827
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Alopecia	ORPHA:79397
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Freckling, Pigmentary ret...	OMIM:610651
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Morgagni-Stewart-Morel Syndrome	Hypertension, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, C...	ORPHA:370022
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Mulibrey Nanism	Congestive heart failure, Pigmentary retinopathy, Iris coloboma	OMIM:253250
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Angina pectoris, Incr...	ORPHA:412
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar atrophy	OMIM:618090
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, ...	ORPHA:3208
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Dilated cardiomyopathy, Hypercholesterolemia, Aortic regurgitation	ORPHA:401923
Wolfram Syndrome 1	Optic atrophy, Cerebral atrophy, Pigmentary retinopathy	OMIM:222300
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Hypertension	ORPHA:363400
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98855
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Erythrokeratodermia Variabilis	Abnormality of the nail, Alopecia, Generalized hirsutism, Abnormal hair morphology	ORPHA:317
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy, Increased C-peptide ...	ORPHA:528
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98853
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hypertension, Hyperlipidemia	OMIM:603278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Pigmentary retinopathy, Retinal dyspl...	OMIM:613154
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre...	OMIM:615516
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma	ORPHA:2510
Intellectual Developmental Disorder, X-Linked 30	Agitation, Hydrocephalus, Hyperactivity, Short attention span, Restlessness, Aggressive behavior	OMIM:300558
Kearns-Sayre Syndrome	Arrhythmia, Cardiomyopathy, Pigmentary retinopathy, Third degree atrioventricular block	OMIM:530000
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent...	OMIM:620141
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98863
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Norrie Disease	Optic atrophy, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Leukocoria, Retinal...	OMIM:310600
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Telangiectasia of the skin	OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Depression, Short attention span, Secundum atrial septal defect, Dysphoria, Motor ...	OMIM:620242
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:620603
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Idiopathic Trachyonychia	Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ...	ORPHA:79153
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Attent...	OMIM:619151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia	OMIM:615181
Systemic Lupus Erythematosus 17	Optic neuritis, Alopecia	OMIM:301080
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:615704
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:613155
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Hyperactivity, Cryptorchidism, Precocious puberty, Tetralogy of Fallot, Motor...	ORPHA:3306
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Incontinentia Pigmenti	Optic atrophy, Nail dysplasia, Nail dystrophy, Breast hypoplasia, Ridged nail, Breast aplasia, Re...	OMIM:308300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Nicolaides-Baraitser Syndrome	Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pattern, Sparse hair, Alopecia	ORPHA:3051
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Abnormal finge...	ORPHA:2930
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy, Arrhythmia	OMIM:609015
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Alo...	OMIM:612843
Cholestasis, Progressive Familial Intrahepatic, 8	Increased serum bile acid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Elev...	OMIM:619662
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Small nail, Absent eyelashes, Absent eyebrow, Re...	ORPHA:166035
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Restrictive cardiomyopathy	OMIM:619313
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:267700
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Primary Aphakia	Aniridia, Retinal dysplasia, Retinal detachment, Optic disc coloboma, Anterior synechiae of the a...	ORPHA:83461
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hyperuricemia, Hypertension, Hypertrophic cardiom...	ORPHA:79083
Glycogen Storage Disease Iii	Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:232400
Keratoderma Hereditarium Mutilans	Abnormality of the nail, Abnormal toenail morphology, Alopecia	ORPHA:494
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Griscelli Syndrome Type 1	Iris hypopigmentation, Hyperlipidemia	ORPHA:79476
Methanol Poisoning	Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral ...	ORPHA:31825
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Alopecia of scalp, Absent pubic hair, Sparse eyebrow, Absent axillary hair, Congenital alopecia t...	ORPHA:2269
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Retinal pi...	OMIM:618733
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia	ORPHA:79237
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Beck-Fahrner Syndrome	Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly, Depression	OMIM:618798
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea...	OMIM:615980
Usher Syndrome	Cerebral cortical atrophy, Abnormality of retinal pigmentation, Abnormal cardiovascular system ph...	ORPHA:886
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short...	ORPHA:449291
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis	ORPHA:701
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:2348
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten...	ORPHA:90041
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Neurodegeneration	OMIM:309900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Confusion, Decreased carnitine level in liver, Ca...	OMIM:212140
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly	ORPHA:615
Infantile Sialic Acid Storage Disease	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:269920
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia of scalp, Nail dystrophy, Alopecia	OMIM:618373
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia	ORPHA:69735
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Abnormal fear-induced behavior, Depression, Confusion, Myeloproliferative disorder, Ab...	ORPHA:100924
Neuhauser Syndrome	Iris transillumination defect, Iridodonesis, Retinal detachment, Hypoplasia of the iris, Hypercho...	OMIM:249310
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:66628
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atroph...	OMIM:235200
Seckel Syndrome 10	Hypertriglyceridemia, Congestive heart failure, Retinal detachment, Hypertension, Elevated hemogl...	OMIM:617253
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Hyperactivity, Impulsivity, Cerebellar dyspla...	ORPHA:8
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia	OMIM:614564
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, Stereotypical h...	ORPHA:163681
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:179494
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots	OMIM:214110
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Patchy alopecia, Fragile nails	OMIM:226650
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Red eye, Heteroc...	ORPHA:790
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pallidal degeneration, Bull's eye maculopathy, Retinal degeneration, Retinal fleck...	ORPHA:157850
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia	OMIM:242300
16P12.1P12.3 Triplication Syndrome	Abnormal tricuspid valve morphology, Nail-biting, Hyperactivity, Bilateral cryptorchidism, Attent...	ORPHA:485405
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Flynn-Aird Syndrome	Rod-cone dystrophy, Alopecia	ORPHA:2047
Adams-Oliver Syndrome 2	Optic atrophy, Alopecia, Low anterior hairline, Small nail	OMIM:614219
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Hypercholesterolemia	OMIM:618348
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertension, Aortic valve ...	ORPHA:363618
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Abnormal cardiovascular system ph...	ORPHA:79086
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Retinal detachment, Hypertension, Cerebral ischemia, ...	ORPHA:394
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Mitral regurgitati...	ORPHA:746
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Infantile Neuroaxonal Dystrophy	Hyperactivity, Cerebellar atrophy, Short attention span, Impulsivity, Choking episodes, Psychomot...	ORPHA:35069
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Hereditary Mucoepithelial Dysplasia	Fine hair, Sparse hair, Alopecia	ORPHA:1839
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Classic Mycosis Fungoides	Abnormality of the nail, Alopecia	ORPHA:2584
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Congenital abnormal hair pattern, Atrichia, Alopecia	ORPHA:1867
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Mental deterioration, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu...	ORPHA:251393
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy	OMIM:240300
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Dysphagia, Restlessness, Cardiomegaly, Paroxysmal bursts of laughter	ORPHA:391428
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi...	OMIM:256550
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Werner Syndrome	Premature graying of hair, Congestive heart failure, Hypertension, White forelock, Abnormality of...	ORPHA:902
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Werner Syndrome	Hypertriglyceridemia, Retinal degeneration, Elevated hemoglobin A1c	OMIM:277700
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Renpenning Syndrome	Abnormal hairshaft morphology, Thin eyebrow, Alopecia	ORPHA:3242
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Motor stereotypy, Lymphopenia, Aggressive behavior	ORPHA:391307
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Increased circulating chylomicron conce...	ORPHA:444490
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Congenital Disorder Of Glycosylation, Type Iiaa	Hyperammonemia, Persistent patent ductus venosus, Hypercholesterolemia	OMIM:620454
Keutel Syndrome	Optic atrophy, Alopecia	ORPHA:85202
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Alopecia	ORPHA:177
Cohen Syndrome	Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Motor deteri...	OMIM:252930
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:192
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Kury-Isidor Syndrome	Exudative vitreoretinopathy, Hypertrichosis, Alopecia	OMIM:619762
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotypy, Attention deficit hy...	OMIM:617600
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypercholesterolemia, Hypoplasia of the iris	ORPHA:2479
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:156
Graves Disease	Hyperactivity, Irritability, Polyphagia	OMIM:275000
Aicardi Syndrome	Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme...	ORPHA:50
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa...	ORPHA:3253
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Nail dystrophy, Coarse hair, Brittle hair	ORPHA:75389
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Decreased H...	ORPHA:280365
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor...	ORPHA:2526
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Lichen Planopilaris	Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Macrophage Activation Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir...	ORPHA:158061
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Cardiomyopathy, Elevated circulating creatine kinase ...	ORPHA:264580
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Pigmentary retinopathy	ORPHA:71212
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Addictive a...	ORPHA:57777
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe...	OMIM:210250
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypertrophic cardiomyopathy	ORPHA:369
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Bathing Suit Ichthyosis	Nail dystrophy, Sparse hair, Alopecia	ORPHA:100976
Low Phospholipid-Associated Cholelithiasis	Hypertension, Hypercholesterolemia	ORPHA:69663
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ...	OMIM:603553
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hypercholesterolemia	OMIM:151660
Mogs-Cdg	Optic atrophy, Hirsutism, Long eyelashes, Abnormality of visual evoked potentials, Fair hair, Alo...	ORPHA:79330
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ...	ORPHA:978
Bresek Syndrome	Optic nerve hypoplasia, Alopecia	ORPHA:85284
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hematochezia, Hypoalbuminemia	OMIM:618183
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperuricemia, Hyperlipidemia, Joint hemorrhage, Epistaxis, Intracra...	ORPHA:35909
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Cardiomyopathy	ORPHA:98907
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Abnormal pons morphology, Aggressive behavior	ORPHA:85327
Congenital Ichthyosiform Erythroderma	Abnormality of the nail, Alopecia	ORPHA:79394
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Global brain atrophy, Hyperpigmentation of the skin, Cerebral degeneration, Retina...	OMIM:234200
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Poliosis, Papilled...	ORPHA:79098
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe...	ORPHA:90321
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Depression, Increased hepatic glycogen content	OMIM:619259
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Angina pectoris, Increased LDL cholesterol concentration, Hypertension, Hyp...	ORPHA:391665
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Brain atrophy, Atrophy of the spinal cord, Cereb...	ORPHA:466768
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Macrocytic anemia, Hyperactivity, Coronary artery fistula, Cryptorchidism, Attentio...	OMIM:614294
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Johnson Neuroectodermal Syndrome	Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia	ORPHA:2316
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration	ORPHA:540
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Alopecia	ORPHA:412057
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hypotension, Hypovolemia, Pulmonary...	ORPHA:275761
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Hypoplastic fingernail, Abnormal hair morphology, Retinal deta...	ORPHA:464
Abnormal Hair, Joint Laxity, And Developmental Delay	Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia	OMIM:261990
Alstrom Syndrome	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hyperuri...	OMIM:203800
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv...	OMIM:610042
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis	OMIM:614594
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Hypopigmentation of hair, Brain atrophy, Atrophy of the spin...	ORPHA:167
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy	OMIM:224050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Congestive heart failure, Brain atrophy, Pulmonary arterial hypertension, Tricuspi...	ORPHA:505248
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Olmsted Syndrome 2	Alopecia universalis, Woolly hair, Sparse hair	OMIM:619208
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Cerebral atrophy, Abnormality of macular pigmentation, Atrophy o...	ORPHA:79282
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinem...	ORPHA:90674
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Hyperconvex fingernails	ORPHA:257
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertension	ORPHA:1414
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Port...	ORPHA:186
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Alopecia universalis, Absent fingernail, Anonychia	OMIM:609638
Argininemia	Anorexia, Irritability, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Hyp...	OMIM:207800
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
H Syndrome	Hypertriglyceridemia, Facial telangiectasia, Abnormal cardiovascular system physiology	ORPHA:168569
Trichotillomania	Alopecia	OMIM:613229
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cerebral cortical atrophy, Optic disc pallor, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent...	ORPHA:581
Pachyonychia Congenita	Nail dystrophy, Onychogryposis of toenails, Onychogryposis of fingernail, Fingernail dysplasia, P...	ORPHA:2309
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Testicular atrophy, Portal hyp...	ORPHA:465508
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly...	OMIM:608013
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Cerebellar vermis atrophy, Cerebellar atrophy, Brushfield s...	OMIM:614866
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev...	ORPHA:470
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Abnormal hair morphology, Thin nail, Small nail	OMIM:242100
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Cerebellar atrophy, Short attention span, Impulsivity, Dysphagia, Mental deteriora...	OMIM:610217
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Pancreatic hypoplasia, Hypergonadotropic hypogonadism...	OMIM:602782
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:610717
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:605676
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Alopecia	OMIM:616367
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Thick hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia	OMIM:607626
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Nijmegen Breakage Syndrome	Cafe-au-lait spot, Conjunctival telangiectasia, Progressive vitiligo, Retinal pigment epithelial ...	OMIM:251260
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Fragile nails, Sparse hair, Alopecia	OMIM:242150
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertension, Hyperlipide...	ORPHA:79259
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:580
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro...	ORPHA:2556
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Hepatic steatosis	ORPHA:42
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopath...	ORPHA:255210
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Griscelli Syndrome Type 2	Iris hypopigmentation, Hyperlipidemia	ORPHA:79477
Legius Syndrome	Ovarian neoplasm, Hyperactivity, Acute monocytic leukemia, Short attention span, Cognitive impair...	ORPHA:137605
Melas	Optic atrophy, Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Brain atro...	ORPHA:550
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia	OMIM:137940
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis	OMIM:616897
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Alopecia	ORPHA:228390
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy	ORPHA:14
Gapo Syndrome	Optic atrophy, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia	ORPHA:2067
Cockayne Syndrome	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Retinal ...	ORPHA:191
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Junctional ectopic tachycardia, ...	OMIM:309801
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow...	ORPHA:544488
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hirsutism, Alopecia	OMIM:615830
Dyskeratosis Congenita, Autosomal Dominant 3	Nail dysplasia, Premature graying of hair, Nail dystrophy, Exudative retinopathy, Fine hair, Alop...	OMIM:613990
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia	ORPHA:3224
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Diffuse cerebella...	ORPHA:71505
Sézary Syndrome	Nail dystrophy, Alopecia	ORPHA:3162
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Sparse hair, Alopecia	ORPHA:659
Gapo Syndrome	Optic atrophy, Breast hypoplasia, Nail dysplasia, Hypoplastic nipples, Sparse eyelashes, Sparse e...	OMIM:230740
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Cockayne Syndrome A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal atrophy, Cerebellar...	OMIM:216400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Anterior Segment Dysgenesis 6	Corneal neovascularization, Posterior synechiae of the anterior chamber	OMIM:617315
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Coarse hair, Alopecia	OMIM:158310
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia	OMIM:619471
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Abnormal circulating creatine kinase concentratio...	ORPHA:98908
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Cerebral cortical atro...	OMIM:277400
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretinal scar, Red eye, Ret...	ORPHA:91500
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling	OMIM:607459
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Bartsocas-Papas Syndrome	Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen...	ORPHA:1234
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Progressive psychomotor deterioration	OMIM:268800
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Rod-cone dystrophy, Patchy alopecia, Sparse hair	OMIM:617763
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217085
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy, Cone/cone-rod dystro...	ORPHA:404454
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia	ORPHA:3453
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Restrictive cardiomyopathy, Hypercalcemia	ORPHA:369837
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:175500
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217093
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Cognitive impairment, Myocardial fibrosis, Card...	OMIM:300257
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Confusion, Cardiomyopathy, Dementia	OMIM:105210
Adams-Oliver Syndrome	Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Alopecia	ORPHA:974
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration, Tricuspid regurgitation	OMIM:300972
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Inappropriate laughter, Hepatomegaly, Cryptorchidism	OMIM:618143
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Acrodermatitis Enteropathica	Ridged nail, Abnormality of the nail, Abnormal eyebrow morphology, Ridged fingernail, Paronychia,...	ORPHA:37
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Omenn Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Hyperte...	OMIM:619573
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Alopecia	OMIM:127550
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis...	ORPHA:636
Satoyoshi Syndrome	Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology	ORPHA:3130
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Macs Syndrome	Sparse eyebrow, Sparse hair, Alopecia	OMIM:613075
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia	ORPHA:1647
Adrenoleukodystrophy	Alopecia	OMIM:300100
Congenital Disorder Of Glycosylation, Type Im	Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:610768
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Hyp...	OMIM:606721
Leigh Syndrome	Optic atrophy, Abnormal optic nerve morphology, Frontal hirsutism, Hypertrichosis, Alopecia	ORPHA:506
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension, Hyper...	OMIM:235400
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,...	ORPHA:3109
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:226600
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Decreased pla...	ORPHA:157
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Biotinidase Deficiency	Optic atrophy, Alopecia	OMIM:253260
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Cockayne Syndrome B	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked po...	OMIM:133540
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S...	OMIM:268400
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Mitral regurgitation, Aortic regurgitation, Arrhythmia	ORPHA:254346
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia	ORPHA:158048
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h...	ORPHA:2232
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Hepatic steatosis	OMIM:255120
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Papilledema	OMIM:618775
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Autosomal Dominant Hypocalcemia	Optic atrophy, Abnormal fingernail morphology, Abnormality of the nail, Alopecia	ORPHA:428
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Fabry Disease	Optic atrophy, Congestive heart failure, Abnormal circulating lipid concentration, Angina pectori...	ORPHA:324
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Cystinosis, Nephropathic	Cerebral atrophy, Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Retinal pi...	OMIM:219800
Giant Cell Arteritis	Optic atrophy, Alopecia	ORPHA:397
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia	ORPHA:169154
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Impulsivity, Cryptorchidism, Left ventricular no...	OMIM:300967
Biotinidase Deficiency	Optic atrophy, Optic neuropathy, Alopecia	ORPHA:79241
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Congenital alop...	ORPHA:158687
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Compulsive behavi...	ORPHA:353281
Frontonasal Dysplasia 2	Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair	OMIM:613451
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Johanson-Blizzard Syndrome	Abnormal hair pattern, Alopecia	ORPHA:2315
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Aplastic/hypoplastic toenail, Abnormal eyelash morphol...	ORPHA:1775
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Progeria-Short Stature-Pigmented Nevi Syndrome	Low posterior hairline, Alopecia	ORPHA:2959
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Dilated cardiomyop...	OMIM:608836
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Hyperlipidemia, Elevated ci...	ORPHA:565612
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelashes, Sparse ey...	ORPHA:35173
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral isch...	ORPHA:1830
Ane Syndrome	Alopecia	ORPHA:157954
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:614008
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega...	OMIM:619991
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Irritab...	OMIM:300855
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alo...	ORPHA:2108
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Nail dystrophy, Alopecia	OMIM:620040
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia, Pigmentary retinopathy	OMIM:118450
Oculocerebrorenal Syndrome Of Lowe	Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Abnormal p...	ORPHA:534
Atypical Werner Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypertension, Aortic valve stenosis, Abnormality ...	ORPHA:79474
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia, Alopecia	ORPHA:90153
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Mental deterioration	OMIM:230000
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Mitral regurgitation, Elevated hemoglobin A1c, Tricuspid regurgitation	OMIM:619127
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Nail dystrophy, Abnormal hair morphology	ORPHA:90154
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Increased B cell count, Cholestasis, Increa...	OMIM:620376
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia totalis, Abnormality of the periungual region, Nail dystrophy, Alopecia	ORPHA:293978
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Hypertrophic cardiomyopathy	OMIM:269700
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cardiomyopathy	OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Elevated...	OMIM:256040
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Fanconi Anemia, Complementation Group L	Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Attention deficit hyperactivity disor...	OMIM:614083
Focal Dermal Hypoplasia	Abnormality of the nail, Chorioretinal coloboma, Alopecia	ORPHA:2092
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Pearson Syndrome	Cafe-au-lait spot, Pigmentary retinopathy, Hyperpigmentation of the skin	ORPHA:699
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Hyperlipidemia, Hyperaldosteronism, Paradoxical increased cortisol secretion on dex...	ORPHA:189427
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Patchy alopecia	OMIM:606367
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Enlarged cerebellum	OMIM:620047
Glycogen Storage Disease Ic	Xanthelasma, Hyperuricemia, Spider hemangioma, Hypertension, Hyperlipidemia, Pulmonary arterial h...	OMIM:232240
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Aicardi-Goutières Syndrome	Irritability, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic card...	ORPHA:51
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial...	ORPHA:96191
Proteus Syndrome	Retinal hamartoma, Irregular hyperpigmentation, Retinal nonattachment, Multiple cafe-au-lait spot...	ORPHA:744
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Glycogen Storage Disease Ia	Xanthelasma, Hypertension, Hyperlipidemia, Hyperuricemia	OMIM:232200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Pulmonary embolism, Hypertension, Hyperlipidemia	ORPHA:567546
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina	ORPHA:2237
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Bartsocas-Papas Syndrome 1	Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Anonychia, Alopecia totalis, Alo...	OMIM:263650
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,...	OMIM:106260
Encephalocraniocutaneous Lipomatosis	Retinopathy, Abnormal eyelash morphology, Alopecia	ORPHA:2396
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Single ventricle	OMIM:619879
Distal Deletion 19P	Thick eyebrow, Alopecia	ORPHA:96129
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Cognitive impairment, Dysphagia, Left ventricular hype...	ORPHA:365
Dyskeratosis Congenita, X-Linked	Optic atrophy, Premature graying of hair, Nail dystrophy, Ridged nail, Sparse eyelashes, Pterygiu...	OMIM:305000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hirsutism, Alopecia	ORPHA:90795
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Portal hypertension, Abnormal circulating fatty-ac...	ORPHA:567983
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Omenn Syndrome	Alopecia	OMIM:603554
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto...	OMIM:130650
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Porphyria, Congenital Erythropoietic	Absent eyebrow, Loss of eyelashes, Hypertrichosis, Alopecia	OMIM:263700
Limb-Mammary Syndrome	Nail dysplasia, Breast aplasia, Hypoplastic nipples, Absent nipple, Bilateral breast hypoplasia, ...	ORPHA:69085
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Patent foramen ov...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Patent foramen ov...	ORPHA:353277
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy, Alopecia	OMIM:619321
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome	Bidirectional shunt, Aortic regurgitation, Hyperbilirubinemia, Cardiac arrest, Pulmonary arterial...	OMIM:619534
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Alopecia	ORPHA:37042
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Cardiomyopathy	ORPHA:110
Xeroderma Pigmentosum	Optic atrophy, Conjunctival telangiectasia, Alopecia	ORPHA:910
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Onychogryposis, Alopecia	ORPHA:79396
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Glycogen Storage Disease Ib	Xanthelasma, Hypertension, Hyperlipidemia, Hyperuricemia	OMIM:232220
Behcet Syndrome	Chorioretinitis, Patchy alopecia	OMIM:109650
Systemic Sclerosis	Nail bed telangiectasia, Alopecia	ORPHA:90291
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Sparse eyelashes, Sparse eyebrow, Sparse hai...	ORPHA:2909
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Orofaciodigital Syndrome I	Dry hair, Sparse hair, Alopecia	OMIM:311200
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Sparse hair, Brittle hair	ORPHA:2750
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula...	OMIM:309000
Histiocytoid Cardiomyopathy	Cardiomegaly, Polycystic ovaries, Hepatomegaly, Ventricular septal defect	ORPHA:137675
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hep...	OMIM:274000
Colchicine Poisoning	Alopecia	ORPHA:31824
Wiedemann-Rautenstrauch Syndrome	Pulmonic stenosis, Optic atrophy, Hypertriglyceridemia, Pigmentary retinopathy	ORPHA:3455
Autosomal Recessive Robinow Syndrome	Fingernail dysplasia, Long eyelashes, Alopecia	ORPHA:1507
Insulin-Resistance Syndrome Type B	Hirsutism, Alopecia	ORPHA:2298
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Fair hair, Alopecia	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Fair hair, Alopecia	ORPHA:363958
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aortic valve, Cardiomegal...	ORPHA:904
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism, Pica	OMIM:614527
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Autosomal Dominant Robinow Syndrome	Curly eyelashes, Onychogryposis of fingernail, Long eyelashes, Ridged fingernail, Fingernail dysp...	ORPHA:3107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail	OMIM:308050
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Woodhouse-Sakati Syndrome	Fine hair, Sparse hair, Alopecia	OMIM:241080
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperconvex fingernail...	ORPHA:2273
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope...	ORPHA:221008
Ring Chromosome 13 Syndrome	Retinoblastoma, Alopecia, Abnormal retinal morphology	ORPHA:96176
Histidinemia	Hyperactivity	ORPHA:2157
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope...	ORPHA:221016
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Abnormality of the nail, Anonychia, Paronychia, Alopecia	ORPHA:79404
Systemic Lupus Erythematosus	Retinopathy, Alopecia	ORPHA:536
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Leprosy	Sparse body hair, Absent eyebrow, Loss of eyelashes, Alopecia	ORPHA:548
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Cryptorchidism, Tetralogy of Fallot, Cardiomeg...	ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Thin eyebrow, Loss of eyelashes, Sparse hair, Alopecia	ORPHA:2636
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Ventricular septal defec...	OMIM:236680
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Periungual erythema, Absent eyelashes, At...	OMIM:308205
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Breast aplasia, Patchy alopecia, Sparse pubic hair, Sparse axillary hair, Sparse ...	OMIM:181270
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Abnormal heart m...	ORPHA:322
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Cryptorchidism, T...	OMIM:135900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Hypoplastic toen...	ORPHA:99413
Mosaic Monosomy X	Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Hypoplastic toen...	ORPHA:99228
Monosomy X	Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Hypoplastic toen...	ORPHA:99226
Turner Syndrome	Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Hypoplastic toen...	ORPHA:881
Norrie Disease	Irritability, Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-in...	ORPHA:649
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Nail dystrophy, Sparse hair	ORPHA:158668
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Dermatomyositis	Abnormality of the nail, Abnormal hair quantity, Alopecia	ORPHA:221
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Generalized Arterial Calcification Of Infancy	Irritability, Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification, Cardiomega...	ORPHA:51608
Relapsing Polychondritis	Alopecia	ORPHA:728
Viss Syndrome	Retinal detachment, Hirsutism, Sparse scalp hair, Alopecia	OMIM:619472
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Loss of eyelashes, Dystrophic toenail, Patchy alopecia, Absent eyebrow, A...	ORPHA:740
African Trypanosomiasis	Optic neuritis, Papilledema, Alopecia	ORPHA:3385
Chronic Graft Versus Host Disease	Onycholysis, Nail dystrophy, Alopecia	ORPHA:99921
Focal Dermal Hypoplasia	Optic atrophy, Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Ab...	OMIM:305600
Alström Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperlipidemia, Pulmonary arterial ...	ORPHA:64
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Kikuchi-Fujimoto Disease	Alopecia	ORPHA:50918
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru...	OMIM:256520
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Cryptorchidism, Bifid ut...	OMIM:107480
Sarcoidosis	Alopecia	ORPHA:797
Pallister-Killian Syndrome	Sparse anterior scalp hair, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sup...	OMIM:601803
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Abnormal heart valve morphology, Cognitive impairment, Uterine prol...	ORPHA:286
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Dysequilibrium Syndrome		ORPHA:1766

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Brain - MPATH pathological process term hypoplasia	Vldlr^em1(IMPC)Mbp	HOM		Early adult

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 Vldlr.

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

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MGI Allele	Allele Type	Produced
Vldlr^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Vldlr^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Vldlr^{tm199160(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vldlr^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Vldlr^{tm270541(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Vldlr MGI:98935

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Vldlr mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data