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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
abnormal heart morphology	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
increased exploration in new environment	Vldlr^em1(IMPC)Mbp	HOM	Early adult	2.77×10^-06
abnormal behavior	Vldlr^em1(IMPC)Mbp	HOM	Early adult	4.95×10^-09
decreased anxiety-related response	Vldlr^em1(IMPC)Mbp	HOM	Early adult	1.37×10^-08
decreased thigmotaxis	Vldlr^em1(IMPC)Mbp	HOM	Early adult	4.51×10^-09
abnormal spleen morphology	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
blind uterus	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Vldlr^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Vldlr^em1(IMPC)Mbp	HOM	Early adult	1.81×10^-12

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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 Dorso Ventral

75 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 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 (1132 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 atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia	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	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
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
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 29	Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	OMIM:614025
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane	OMIM:620253
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu...	OMIM:204500
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c...	OMIM:616516
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Retinitis Pigmentosa 44	Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613769
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
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
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Retinitis Pigmentosa 20	Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613794
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ...	DECIPHER:39
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Ethanolaminosis	Cardiomegaly	OMIM:227150
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
L-Ferritin Deficiency	Alopecia	OMIM:615604
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Abnormal fundus morphology, Abnormal optic nerve morphology, R...	ORPHA:436274
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Hyperlysinemia, Type I	Anemia, Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Ramon Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin	ORPHA:3019
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Congestive h...	OMIM:618234
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity	OMIM:613402
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Chudley-Mccullough Syndrome	Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Kerion Celsi	Alopecia	ORPHA:499
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Coloboma Of Macula	Macular coloboma	OMIM:120300
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia	OMIM:615771
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia, Iris coloboma	OMIM:610202
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Anisocoria	OMIM:619649
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Flynn-Aird Syndrome	Rod-cone dystrophy, Alopecia, Alopecia of scalp	OMIM:136300
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav...	OMIM:252920
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Ectopia Lentis Et Pupillae	Retinal detachment, Ectopia pupillae, Iris transillumination defect, Persistent pupillary membrane	OMIM:225200
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber	OMIM:616722
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Retinal coloboma, Macular coloboma	OMIM:107550
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia	ORPHA:324416
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder	OMIM:617182
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula...	ORPHA:567548
Antiphospholipid Syndrome, Familial	Retinal detachment, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Iritis	OMIM:107320
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
Uveal Melanoma	Retinal detachment, Iris melanoma, Abnormal fundus morphology, Vitreous hemorrhage, Ciliary body ...	ORPHA:39044
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Dementia, Cerebellar vermis atrophy	ORPHA:248111
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ...	ORPHA:352731
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia	OMIM:618090
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia	OMIM:604367
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Cognitive...	ORPHA:370022
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma, Congestive heart failure	OMIM:253250
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Cerebral atrophy	OMIM:222300
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho...	ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Refsum Disease	Heart block, Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy	ORPHA:773
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension	ORPHA:401923
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:363400
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun...	ORPHA:3208
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy...	ORPHA:528
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl...	OMIM:613154
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail	ORPHA:317
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Hydrocephalus, Agitation	OMIM:300558
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98863
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Kearns-Sayre Syndrome	Pigmentary retinopathy, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy	OMIM:530000
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon...	OMIM:620141
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Cerebral cortical atrophy	ORPHA:2510
Norrie Disease	Retinal detachment, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Retinal...	OMIM:310600
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphori...	OMIM:620242
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Telangiectasia of the skin	OMIM:615381
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Abnormality of pattern visual evoked potentials, Smal...	ORPHA:166035
Amed Syndrome, Digenic	Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc...	OMIM:619151
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Systemic Lupus Erythematosus 17	Alopecia, Optic neuritis	OMIM:301080
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Increased LDL...	OMIM:278000
Incontinentia Pigmenti	Ridged nail, Hypoplasia of the fovea, Alopecia, Retinal detachment, Supernumerary nipple, Retinal...	OMIM:308300
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism...	ORPHA:3306
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Mitral valve prolapse, Self-biting, Recurrent hand f...	OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:613155
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom...	ORPHA:79083
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia, Restrictive cardiomyopathy	OMIM:619313
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cereb...	OMIM:613153
Glycogen Storage Disease Iii	Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Griscelli Syndrome Type 1	Hyperlipidemia, Iris hypopigmentation	ORPHA:79476
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Hypertriglyceridemia	ORPHA:2348
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action...	OMIM:618733
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ...	OMIM:203800
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Mitral valve prolapse, Irri...	ORPHA:449291
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression	OMIM:618798
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Confusion, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocard...	OMIM:212140
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:66628
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre...	ORPHA:100924
Usher Syndrome	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ...	ORPHA:886
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Seckel Syndrome 10	Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hype...	OMIM:617253
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
47,Xyy Syndrome	Hyperactivity, Impulsivity, Hydrocephalus, Attention deficit hyperactivity disorder, Dysgenesis o...	ORPHA:8
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo...	ORPHA:90041
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Mental deterioration, Low f...	ORPHA:163681
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:179494
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve...	OMIM:601853
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:615960
Flynn-Aird Syndrome	Alopecia, Rod-cone dystrophy	ORPHA:2047
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg...	ORPHA:363618
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy	OMIM:618348
Adams-Oliver Syndrome 2	Alopecia, Optic atrophy, Low anterior hairline, Small nail	OMIM:614219
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e...	ORPHA:394
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension, Ab...	ORPHA:79086
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Mitral regurgitation, ...	ORPHA:746
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Short attention span, Psychomotor deterioration, Hyperactivity, Impulsivity, ...	ORPHA:35069
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Abnorma...	ORPHA:1215
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Long eyelashes, Low posterior hairline	OMIM:617523
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia	ORPHA:1867
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration	OMIM:277700
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly	OMIM:619051
Hsd10 Disease, Infantile Type	Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter	ORPHA:391428
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi...	OMIM:617600
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Neuhauser Syndrome	Hypoplasia of the iris, Hypercholesterolemia, Iridodonesis	OMIM:249310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Werner Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin, Myocardial infarction, Congestiv...	ORPHA:902
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dysphagia, Motor deteri...	OMIM:252930
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Hypercholesterolemia, Iridodonesis	ORPHA:2479
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Kury-Isidor Syndrome	Exudative vitreoretinopathy, Alopecia, Hypertrichosis	OMIM:619762
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Keutel Syndrome	Alopecia, Optic atrophy	ORPHA:85202
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, C...	ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Pulmonary ...	ORPHA:444490
Mogs-Cdg	Alopecia, Optic atrophy, Long eyelashes, Abnormality of visual evoked potentials, Fair hair, Hirs...	ORPHA:79330
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Hypertension	ORPHA:69663
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Bresek Syndrome	Alopecia, Optic nerve hypoplasia	ORPHA:85284
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hyperlipidemia	ORPHA:369
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy	OMIM:252900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Sympathetic Ophthalmia	Papilledema, Alopecia, Retinal detachment, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global b...	OMIM:234200
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ...	ORPHA:57777
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H...	ORPHA:391665
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly, Depression	OMIM:619259
Cardiac-Urogenital Syndrome	Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Corona...	OMIM:614294
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Retinal atrophy	ORPHA:412057
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy...	ORPHA:275761
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia	OMIM:224050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop...	ORPHA:79282
Incontinentia Pigmenti	Retinal detachment, Alopecia, Abnormal fingernail morphology, Abnormal chorioretinal morphology, ...	ORPHA:464
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Exudative retinopathy, Nail dysplasia	OMIM:613990
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Abnormal pons morphology, Aggressive behavior	ORPHA:85327
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu...	ORPHA:505248
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad...	ORPHA:90674
H Syndrome	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Facial telangiectasia	ORPHA:168569
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deteriora...	OMIM:610217
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy	OMIM:214100
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Thrombocytopenia,...	OMIM:608013
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ...	OMIM:207800
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperit...	OMIM:602782
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertension	ORPHA:1414
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath...	OMIM:614866
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Trichotillomania	Alopecia	OMIM:613229
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege...	OMIM:251260
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Mucopolysaccharidosis Type 3	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Cardiomeg...	ORPHA:581
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr...	ORPHA:550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Xanthelasma, Hypertension, Pulmonary venous hype...	ORPHA:79259
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	ORPHA:42
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes	OMIM:137940
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Arrhythmia, ...	OMIM:309801
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy	ORPHA:2067
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Mitochondrial Dna-Associated Leigh Syndrome	Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hy...	ORPHA:255210
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy	OMIM:616897
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Corneal neovascularization	OMIM:617315
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Retinal arteriolar tortuosity, Optic atrophy, Hypopla...	OMIM:230740
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Sézary Syndrome	Alopecia, Nail dystrophy	ORPHA:3162
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	OMIM:255120
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Griscelli Syndrome Type 2	Hyperlipidemia, Iris hypopigmentation	ORPHA:79477
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Red eye, Macular ...	ORPHA:91500
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Papilledema	OMIM:619471
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord	OMIM:607459
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Progressive psychomotor deterioration, Cardiomegaly	OMIM:268800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Rod-cone dystrophy, Patchy alopecia	OMIM:617763
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Immunodeficiency 47	Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration	OMIM:300972
Neutral Lipid Storage Myopathy	Cardiomyopathy, Hypertriglyceridemia, Congestive heart failure, Abnormal circulating creatine kin...	ORPHA:98908
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairm...	OMIM:300257
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Dementia, Confusion, Cardiomegaly	OMIM:105210
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of...	ORPHA:37
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Omenn Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Inappropriate laughter, Cardiomegaly	OMIM:618143
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat...	OMIM:619573
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Leigh Syndrome	Alopecia, Optic atrophy, Abnormal optic nerve morphology, Frontal hirsutism, Hypertrichosis	ORPHA:506
Adrenoleukodystrophy	Alopecia	OMIM:300100
Biotinidase Deficiency	Alopecia, Optic atrophy	OMIM:253260
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Sparse eyelashes	OMIM:610768
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Pig...	OMIM:606721
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Alopecia totalis	OMIM:618775
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy, Dysphagia	ORPHA:268
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral...	OMIM:133540
Autosomal Dominant Hypocalcemia	Alopecia, Optic atrophy, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Choreoacanthocytosis	Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Cere...	OMIM:219800
Giant Cell Arteritis	Alopecia, Optic atrophy	ORPHA:397
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea...	OMIM:235400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia	ORPHA:169154
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353281
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Biotinidase Deficiency	Alopecia, Optic atrophy, Optic neuropathy	ORPHA:79241
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline	ORPHA:2959
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca...	OMIM:608836
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Legius Syndrome	Short attention span, Hyperactivity, Acute monocytic leukemia, Mitral valve prolapse, Ovarian neo...	ORPHA:137605
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy	OMIM:118450
Ane Syndrome	Alopecia	ORPHA:157954
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Hypertriglyceridemia, Telangiectasia of the skin, Congestive...	ORPHA:79474
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Mental deterioration	OMIM:230000
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Abnormal pupil morphology, Hypokalemia, Hyperaldosteronism, Hypophos...	ORPHA:534
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Hyperlipidemia, Low-output c...	ORPHA:565612
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia	ORPHA:90153
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Hypertension, Ischemic strok...	ORPHA:1830
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia	ORPHA:3320
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy	OMIM:614008
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina...	ORPHA:744
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Hypertriglyceridemia	OMIM:608594
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Attention deficit hyperactivity disorder, Mic...	OMIM:614083
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail, Chorioretinal coloboma	ORPHA:2092
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Enlarged cerebellum	OMIM:620047
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Alopecia universalis	OMIM:606367
Aicardi-Goutières Syndrome	Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemi...	ORPHA:51
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis	ORPHA:293978
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon...	OMIM:263650
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Cognitive impairment, Dysphagia, Left ventricular hypertrophy, Hypert...	ORPHA:365
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Single ventricle	OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Glycogen Storage Disease Ic	Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Pulmonary arterial h...	OMIM:232240
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia, Retinopathy	ORPHA:2396
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Optic atrophy, Premature...	OMIM:305000
Omenn Syndrome	Alopecia	OMIM:603554
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis	OMIM:263700
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hypertension, Hyperuricemia	OMIM:232200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac...	ORPHA:567983
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno...	ORPHA:2909
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353277
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Optic atrophy	ORPHA:910
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Behcet Syndrome	Chorioretinitis, Patchy alopecia	OMIM:109650
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Nail dystrophy	ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79396
Systemic Sclerosis	Alopecia, Nail bed telangiectasia	ORPHA:90291
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypertension, Hyperuricemia	OMIM:232220
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepato...	OMIM:274000
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Histiocytoid Cardiomyopathy	Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Colchicine Poisoning	Alopecia	ORPHA:31824
Autosomal Recessive Robinow Syndrome	Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Hypertriglyceridemia, Optic atrophy, Pulmonic stenosis	ORPHA:3455
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Optic atrophy	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Optic atrophy	ORPHA:363958
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Insulin-Resistance Syndrome Type B	Alopecia, Hirsutism	ORPHA:2298
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221008
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail	OMIM:308050
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Compulsive behaviors, Atrial septal def...	ORPHA:904
Systemic Lupus Erythematosus	Alopecia, Retinopathy	ORPHA:536
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221016
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Histidinemia	Hyperactivity	ORPHA:2157
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Ring Chromosome 13 Syndrome	Retinoblastoma, Alopecia, Abnormal retinal morphology	ORPHA:96176
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Gonadobla...	ORPHA:116
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Bil...	OMIM:194190
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia...	OMIM:308205
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Coffin-Siris Syndrome 1	Ventricular septal defect, Hypospadias, Aggressive behavior, Cryptorchidism, Compulsive behaviors...	OMIM:135900
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Alopecia universalis	ORPHA:158668
Norrie Disease	Cryptorchidism, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, ...	ORPHA:649
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:881
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca...	ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Relapsing Polychondritis	Alopecia	ORPHA:728
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Viss Syndrome	Retinal detachment, Sparse scalp hair, Alopecia, Hirsutism	OMIM:619472
African Trypanosomiasis	Papilledema, Alopecia, Optic neuritis	ORPHA:3385
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys...	ORPHA:740
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Optic atrophy, Patchy alopecia, Nail dystrophy, ...	OMIM:305600
Alström Syndrome	Optic disc pallor, Hypertriglyceridemia, Retinal pigment epithelial atrophy, Portal hypertension,...	ORPHA:64
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin...	OMIM:130050
Kikuchi-Fujimoto Disease	Alopecia	ORPHA:50918
Chronic Graft Versus Host Disease	Alopecia, Onycholysis, Nail dystrophy	ORPHA:99921
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat...	OMIM:256520
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt...	OMIM:107480
Sarcoidosis	Alopecia	ORPHA:797
Vascular Ehlers-Danlos Syndrome	Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, C...	ORPHA:286
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	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 20.1 Data