Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Vps13b MGI:1916380

Gene Summary

Name:

vacuolar protein sorting 13B

Synonyms:

C330002D13Rik, 1810042B05Rik, 2310042E16Rik, Coh1

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
small spleen	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal lens morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	1.51×10^-07
decreased lean body mass	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.47×10^-06
decreased exploration in new environment	Vps13b^em1(IMPC)Tcp	HOM	Early adult	9.55×10^-08
abnormal liver morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal optic disk morphology	Vps13b^em1(IMPC)Tcp	HOM	Late adult	1.98×10^-06
increased grip strength	Vps13b^em1(IMPC)Tcp	HOM	Middle aged adult	7.47×10^-05
impaired glucose tolerance	Vps13b^em1(IMPC)Tcp	HOM	Early adult	4.10×10^-05
cataract	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.16×10^-07
decreased leukocyte cell number	Vps13b^em1(IMPC)Tcp	HOM	Early adult	1.63×10^-05
small heart	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Vps13b^em1(IMPC)Tcp	HOM	Late adult	1.98×10^-06
decreased lymphocyte cell number	Vps13b^em1(IMPC)Tcp	HOM	Early adult	8.81×10^-05
abnormal skin morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal retina vasculature morphology	Vps13b^em1(IMPC)Tcp	HOM	Late adult	3.00×10^-06
increased startle reflex	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.84×10^-05
persistence of hyaloid vascular system	Vps13b^em1(IMPC)Tcp	HOM	Late adult	7.66×10^-06
increased mean corpuscular volume	Vps13b^em1(IMPC)Tcp	HOM	Early adult	8.99×10^-06
abnormal eye morphology	Vps13b^em1(IMPC)Tcp	HOM	Late adult	0.00
increased total body fat amount	Vps13b^em1(IMPC)Tcp	HOM	Early adult	7.78×10^-07
decreased circulating alkaline phosphatase level	Vps13b^em1(IMPC)Tcp	HOM	Early adult	3.21×10^-10
enlarged lymph nodes	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
male infertility	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased body length	Vps13b^em1(IMPC)Tcp	HOM	Early adult	3.25×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

34 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

View images

Eye Morphology

Images Slit Lamp

88 Images

View images

Histopathology

Images

16 Images

View images

Eye Morphology

Images Slit Lamp

26 Images

View images

Gross Pathology and Tissue Collection

Images

10 Images

View images

Gross Pathology and Tissue Collection

Images

5 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Histopathology

Images

11 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

4 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

View images

Eye Morphology

Images Ophthalmoscopy

4 Images

View images

Electrocardiogram (ECG)

Waveform Image

1 Images

View images

Human diseases caused by Vps13b 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 Vps13b (2 diseases)
Human diseases predicted to be associated with Vps13b (737 diseases)

The table below shows human diseases associated to Vps13b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cohen Syndrome		Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Cohen Syndrome		Optic atrophy, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:193

The table below shows human diseases predicted to be associated to Vps13b by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair...	OMIM:301101
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Infertility, Rod-cone dystrophy	OMIM:300719
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R...	OMIM:620438
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, C...	ORPHA:320391
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism	ORPHA:3000
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism	ORPHA:2815
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 17	Male infertility	OMIM:617214
Morbid Obesity And Spermatogenic Failure	Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia	OMIM:615703
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Premature ovarian insufficiency, Cataract, Secondary amenorrhea	OMIM:620312
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,...	OMIM:612712
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Optic Atrophy 2	Optic atrophy	OMIM:311050
Morm Syndrome	Cataract, Retinal atrophy, Micropenis, Retinal dystrophy	ORPHA:75858
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Inflammatory abnormality of the eye, Retinal detachment, I...	ORPHA:39044
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy	OMIM:620569
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Inflammatory a...	ORPHA:179
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil...	ORPHA:261529
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d...	ORPHA:363741
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract, Optic disc pallor	OMIM:616732
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Deleted in azoospermia	Azoospermia	OMIM:400003
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ventricular septal defect, S...	OMIM:617021
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Knobloch Syndrome 1	Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre...	OMIM:267750
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Young Syndrome	Bronchiectasis, Azoospermia	OMIM:279000
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cataract, Nucl...	ORPHA:79237
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor	OMIM:165300
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten...	OMIM:613581
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Recurrent sinusitis, Bronchiectasis, Coiled sperm flagella	OMIM:620197
47,Xyy Syndrome	Congenital stationary night blindness, Male infertility, Hypospadias, Increased serum testosteron...	ORPHA:8
Central Retinal Vein Occlusion	Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott...	ORPHA:411527
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Failure ...	ORPHA:2169
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Adrenal Hypoplasia, Congenital	Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of...	OMIM:300200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Hypogonadism	ORPHA:2528
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Cofs Syndrome	Optic atrophy, Cataract, Abnormality of retinal pigmentation, Hypogonadism	ORPHA:1466
Schwannomatosis, Vestibular	Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac...	OMIM:101000
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Senior-Loken Syndrome	Cataract, Premature ovarian insufficiency, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Astigmatism, Anemia, Acute myeloid leukemia, Hyperechog...	OMIM:617052
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Premature ovarian insufficiency	ORPHA:2278
Spastic Paraplegia 74, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy	OMIM:616451
Vitreoretinochoroidopathy	Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc...	OMIM:193220
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Cirrhosis, Anemia, Glucose intolerance, Hepatomegal...	OMIM:606069
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Rod-cone dystrophy, Pigmentary retinopathy, Hypergonadotropic hypogonadism	OMIM:614307
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cho...	ORPHA:231222
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t...	ORPHA:637
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,...	ORPHA:891
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia, Pyelonephritis, Nephritis	OMIM:314300
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Retinitis Pigmentosa 37	Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph...	OMIM:611131
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall...	OMIM:609913
Myotonic Dystrophy 2	Posterior subcapsular cataract, Oligozoospermia, Iridescent posterior subcapsular cataract, Eleva...	OMIM:602668
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten...	OMIM:617547
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c...	OMIM:604307
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe...	OMIM:617087
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Dominant Beta-Thalassemia	Irritability, Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Jaundice...	ORPHA:231226
Usher Syndrome, Type Iiib	Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy	OMIM:614504
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot...	ORPHA:280679
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Vitreous floaters, Patent ductus arteriosus, Anterior cort...	OMIM:618458
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ...	ORPHA:67036
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Hemochromatosis, Type 2A	Azoospermia, Arthritis, Infertility, Amenorrhea, Hypogonadotropic hypogonadism	OMIM:602390
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Irritability, J...	ORPHA:231214
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Diamond-Blackfan Anemia	Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N...	ORPHA:124
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Retinitis Pigmentosa 26	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor	OMIM:608380
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C...	OMIM:611040
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Reduced sperm motility, Bronchiectasis, Rod-cone dystrophy, Macul...	OMIM:615434
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr...	OMIM:609628
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Absent outer dynein arms, Male infertility, Recurrent otitis media, Pneumon...	OMIM:612444
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Martsolf Syndrome 2	Cataract, Developmental cataract, Hypogonadotropic hypogonadism	OMIM:619420
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Classic Galactosemia	Premature ovarian insufficiency, Male infertility, Elevated circulating hepatic transaminase conc...	ORPHA:79239
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
49,Xyyyy Syndrome	External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o...	ORPHA:99330
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin...	OMIM:251270
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia	ORPHA:2183
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Premature ovarian insufficiency, Male hypogonadism, Hypoparathyroidism,...	OMIM:240300
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Lead Poisoning	Delayed puberty, Decreased male libido, Skin rash, Infertility, Oligozoospermia, Reduced sperm mo...	ORPHA:330015
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou...	ORPHA:40923
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility, Chronic rhinitis, Bronchiectasis	OMIM:618801
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Impot...	OMIM:604250
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor	OMIM:616389
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of...	OMIM:612562
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Chroni...	OMIM:617091
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit...	ORPHA:91351
Optic Atrophy 15	Optic atrophy, Optic disc pallor	OMIM:620583
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
16Q24.3 Microdeletion Syndrome	Astigmatism, Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy, Ventric...	ORPHA:261250
Gapo Syndrome	Optic atrophy, Keratoconus, Oligozoospermia, Dysmenorrhea, Hypogonadism, Amenorrhea	ORPHA:2067
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity	ORPHA:104
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Chronic hemolytic anemia, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steato...	OMIM:618278
Ciliary Dyskinesia, Primary, 40	Absent outer dynein arms, Azoospermia, Infertility, Chronic rhinitis, Patent ductus arteriosus, C...	OMIM:618300
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Optic nerve hypoplasia, Zonular cataract	OMIM:222765
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
4H Leukodystrophy	Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit...	ORPHA:289494
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma...	ORPHA:1473
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Vaginal hernia, Optic disc pallor	ORPHA:3173
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Wolfram Syndrome 1	Optic atrophy, Diabetes insipidus, Hypothyroidism, Cataract, Diabetes mellitus, Testicular atroph...	OMIM:222300
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Hemochromatosis, Type 1	Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ...	OMIM:235200
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis	OMIM:300991
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular v...	OMIM:611590
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Cryptorchidism	ORPHA:1381
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Optic disc pallor	OMIM:613730
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis...	OMIM:614874
Myotonic Dystrophy 1	Cataract, Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Cardiomyopathy, Failure to thrive, Iris hypopigmentation, Thrombocytope...	ORPHA:67048
Cone-Rod Dystrophy, X-Linked, 3	Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r...	OMIM:300476
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia...	OMIM:613807
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Rod-cone dystrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Generalized Glucocorticoid Resistance Syndrome	Increased circulating ACTH level, Abnormal circulating testosterone concentration, Infertility, O...	ORPHA:786
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of...	ORPHA:432
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr...	OMIM:300578
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Corneal opa...	ORPHA:290
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo...	OMIM:300845
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Optic disc pallor	OMIM:616079
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cholelithiasis, Type II diabetes mellitus, Hypogonadism, Cataract, Pigmenta...	ORPHA:79095
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Mevalonic Aciduria	Morbilliform rash, Skin rash, Attenuation of retinal blood vessels, Cataract, Nuclear cataract, O...	OMIM:610377
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione...	OMIM:618660
Retinitis Pigmentosa 78	Cystoid macular edema, Optic disc pallor	OMIM:617433
Castleman Disease	Jaundice, Anemia, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentrat...	ORPHA:160
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorchidism	OMIM:268400
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Premature ovarian ins...	OMIM:230400
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo...	OMIM:616170
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Craniolenticulosutural Dysplasia	Optic atrophy, Posterior Y-sutural cataract, Cryptorchidism, Punctate cataract	OMIM:607812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph node hypoplasia,...	OMIM:602450
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Optic disc pallor	OMIM:618970
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Leber Congenital Amaurosis 14	Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor	OMIM:613341
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Cheilitis, Azoospermia, Skin rash, Oligozoospe...	ORPHA:125
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, P...	ORPHA:279914
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Tremor, Cognitive impairment, Failure to...	ORPHA:100
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
8P11.2 Deletion Syndrome	Retinal dystrophy, Azoospermia, Hypoplasia of penis, Microcornea, Abnormality of the hypothalamus...	ORPHA:251066
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Knee osteoarthritis, Osteoarthritis of the elbow, Nuclear cataract, Pericarditis	ORPHA:2848
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Hypogonadism	OMIM:302950
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
3-Methylglutaconic Aciduria, Type Viib	Cataract, Recurrent pneumonia, Zonular cataract	OMIM:616271
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cry...	ORPHA:1867
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Cataract 49	Posterior cortical cataract	OMIM:619593
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Temporal optic disc pallor, Hypothyroidism, Hypogonadism, Morning glory anomaly, C...	ORPHA:98673
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cho...	ORPHA:139471
Isolated Atp Synthase Deficiency	Optic atrophy, Hypothyroidism, Hypogonadism, Cataract, Rod-cone dystrophy	ORPHA:254913
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Acn...	ORPHA:99429
Optic Atrophy 14	Optic disc pallor	OMIM:620550
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Cockayne Syndrome Type 2	Cryptorchidism, Developmental cataract, Conjunctivitis, Male hypogonadism, Uveitis	ORPHA:90322
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Cryptorchidism, Developmental cataract, Corneal scarring	OMIM:309000
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent otitis media, Bronchiectasis, Rhinitis, Recurrent sinusitis, Absent i...	OMIM:614935
Walker-Warburg Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplasia of penis, Mic...	ORPHA:899
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Mirage Syndrome	Hyperkalemia, Anemia, Decreased body weight, Hypergonadotropic hypogonadism, Hyponatremia, Hypopl...	OMIM:617053
Optic Atrophy 5	Optic atrophy, Optic disc pallor	OMIM:610708
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect...	OMIM:610125
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, A...	ORPHA:1772
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Optic disc pallor, Attenuation of ...	OMIM:612095
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Coccidioidomycosis	Morbilliform rash, Abnormality of the female genitalia, Pneumonia, Pancreatitis, Panniculitis, Ab...	ORPHA:228123
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Absent outer dynein arms, Male infertility, Chronic rhinitis, Bronchiectasi...	OMIM:244400
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Warburg Micro Syndrome 3	Optic atrophy, Microcornea, Hypoplastic labia minora, Cataract, Decreased testicular size, Shallo...	OMIM:614222
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Micro Syndrome	Optic atrophy, Delayed puberty, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Clito...	ORPHA:2510
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Werner Syndrome	Cataract, Retinal degeneration, Diabetes mellitus, Hypogonadism	OMIM:277700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Delayed puberty, Abnormal vitreous humor morpho...	ORPHA:649
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen	ORPHA:89844
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Panniculitis, Elevated circulating hepatic transamina...	OMIM:617591
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato...	OMIM:618986
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media	OMIM:618948
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cataract, Hypogonadism, Pigmentary retinopathy	OMIM:610651
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Clitoral hypertrophy, Abnormal mitochondrial shape, Cataract, Ambiguous genitalia	ORPHA:543470
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L...	ORPHA:277
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Warburg Micro Syndrome 2	Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr...	OMIM:614225
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Cockayne Syndrome Type 1	Optic atrophy, Cryptorchidism, Conjunctivitis, Cataract, Male hypogonadism, Pigmentary retinopath...	ORPHA:90321
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Kapur-Toriello Syndrome	Iris coloboma, Retinal coloboma, Patent ductus arteriosus, Cataract, Cryptorchidism, Micropenis, ...	OMIM:244300
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Astigmatism, Retinal dystrophy, Hyperautofluorescent mac...	OMIM:209900
Behcet Syndrome	Genital ulcers, Iritis, Hypopyon, Arthritis, Chorioretinitis, Epididymitis, Iridocyclitis, Erythe...	OMIM:109650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Transketolase Deficiency	Patent ductus arteriosus, Secondary amenorrhea, Seborrheic dermatitis, Conjunctivitis, Cataract, ...	ORPHA:488618
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm	ORPHA:523
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P...	ORPHA:280234
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia	OMIM:614813
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Arthritis, Infertility, Decreased libido, Testicular atrophy, Hypothyroidis...	ORPHA:465508
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Retinal arteriolar constriction	OMIM:249660
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Proteus-Like Syndrome	Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, Polycysti...	ORPHA:2969
Sneddon Syndrome	Atrophic scars, Tremor, Lymphopenia, Bicuspid aortic valve, Mental deterioration	OMIM:182410
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Cowden Syndrome 6	Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid ade...	OMIM:615109
Ataxia-Telangiectasia	Glucose intolerance, Abnormal spermatogenesis, Tremor, Hypoplasia of the thymus, T lymphocytopeni...	OMIM:208900
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc...	ORPHA:263479
Cowden Syndrome 5	Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hypert...	OMIM:615108
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Gracile Bone Dysplasia	Aniridia, Hypocalcemia, Asplenia, Failure to thrive, Hypoplastic spleen	OMIM:602361
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Muckle-Wells Syndrome	Optic atrophy, Delayed puberty, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis...	ORPHA:575
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy	ORPHA:1021
Usher Syndrome	Cataract, Abnormality of retinal pigmentation, Decreased fertility, Astigmatism	ORPHA:886
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Abnormal optic nerve morphology, Optic ne...	ORPHA:98977
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Primary Ciliary Dyskinesia	Chronic otitis media, Male infertility, Recurrent otitis media, Chronic rhinitis, Abnormal sperm ...	ORPHA:244
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Iri...	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Short Stature, Developmental Delay, And Congenital Heart Defects	Developmental cataract, Patent ductus arteriosus, Uveitis	OMIM:617044
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca...	OMIM:309801
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Sandhoff Disease	Hepatomegaly, Progressive psychomotor deterioration, Impotence, Exaggerated startle response, Hep...	OMIM:268800
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Antiphospholipid Syndrome, Familial	Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Keratitis, Scle...	OMIM:107320
Stiff-Person Syndrome	Anemia, Depression, Exaggerated startle response, Opisthotonus, Diabetes mellitus	OMIM:184850
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, ...	ORPHA:549
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Peters anomaly, Retinal detachment, Optic nerve hypoplasia, Hyp...	OMIM:236670
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Inguinal hernia, Cognitive impairment, Lymphope...	OMIM:616541
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Panniculitis, Elevated circulating C-reactive protein concentration, Pancyt...	OMIM:615688
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media, Chronic sinusitis	OMIM:619607
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypo...	OMIM:612541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone ma...	ORPHA:508542
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Oligoarticular Juvenile Idiopathic Arthritis	Band keratopathy, Knee osteoarthritis, Arthritis, Uveitis, Rheumatoid arthritis, Cataract, Anteri...	ORPHA:85410
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract, Diabetes mellitus	OMIM:601701
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Posterior uveitis, Depigmented fundus, Retinal hemorrhage,...	ORPHA:79098
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Hypoplastic left atrium,...	OMIM:601186
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Paratracheal ly...	OMIM:615934
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Irritability, Exaggerated startle response, Partial atrioventricular ca...	OMIM:620423
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Anisocoria, Cataract, Hypogonadotropic hypogonadism, Abnormal pupil shape	ORPHA:45358
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Whipple Disease	Myocarditis, Erectile dysfunction, Myositis, Arthritis, Hypothyroidism, Pericarditis, Infectious ...	ORPHA:3452
Blau Syndrome	Iritis, Cystoid macular edema, Band keratopathy, Erythema nodosum, Arthritis, Synovitis, Eczemato...	OMIM:186580
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Tremor, Exaggerated startle response, Limb joint contracture, Cataract, Atr...	OMIM:620327
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Jaund...	OMIM:619573
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Cystoid macular edema, Skin rash, Chorioretinal scar, Anterior...	ORPHA:91500
Microphthalmia, Syndromic 3	Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Optic nerve aplasia, Scleroco...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Transposition of the great arteries, Elevated circulating creatine kinase c...	OMIM:253800
Incontinentia Pigmenti	Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat...	OMIM:308300
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Tetrasomy 9P	Abnormal chorioretinal morphology, Myositis, Arthritis, Infertility, Oligozoospermia, Pericarditi...	ORPHA:3310
Reni Syndrome	Hypertriglyceridemia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Hypoglycemia, Mental deterioration	OMIM:617575
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Remnants of the...	OMIM:620185
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Avian Influenza	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:454836
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Vici Syndrome	Atrial septal defect, Neutropenia, Cardiomyopathy, Elevated circulating creatine kinase concentra...	OMIM:242840
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se...	ORPHA:83461
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Short attention span, Obesity, Splenomegaly, Lymphopenia	OMIM:605309
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Premature ovarian insufficiency, Hypospadias, Chordee, Cataract, Diabetes mellit...	OMIM:176690
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Atrial septal de...	ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells...	ORPHA:169160
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Bicuspid aortic valve, Astigmatism, Anemia, Inguinal hernia, Pancytopenia, Ventricular hypertroph...	OMIM:620654
Cinca Syndrome	Arthritis, Papilledema, Uveitis, Skin rash	OMIM:607115
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Elevated circulating hepatic transaminase concentration, Accessory ...	OMIM:620005
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia	OMIM:207731
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Abnormality of retinal pigmentation, Atte...	ORPHA:791
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Congenital Syphilis	Optic atrophy, Myocarditis, Pneumonia, Pancreatitis, Chorioretinitis, Synovitis, Rhinitis, Kerati...	ORPHA:499009
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Recurrent sinusitis, Retinal pigment epith...	ORPHA:64
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Fusariosis	Lung abscess, Panniculitis, Brain abscess, Granuloma, Keratitis, Abnormality of the spleen, Perit...	ORPHA:228119
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Retinal detachment, Retinal vascular proliferation, Skin rash,...	ORPHA:464
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Uveitis, Conjunctivitis	OMIM:120100
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Hypothyroi...	OMIM:300166
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Retinal neovascularization, Retinal cotton wool spot, Abnormal retinal vascular mo...	ORPHA:247691
Stiff Person Spectrum Disorder	Emotional lability, Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Peritonitis, Conjunctivitis, ...	ORPHA:32960
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Aplasia of the thymus, Abn...	OMIM:242700
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Hypoplasia of penis, Hypogonadism, Cataract, Cryptorchidism, Iris co...	ORPHA:2250
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Limb ...	OMIM:608643
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Hyperammonemia, Pericar...	ORPHA:99826
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Hypothyroidis...	OMIM:614700
Meige Disease	Atypical scarring of skin, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Knobloch Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ...	ORPHA:1571
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Short attention span, Exaggerated startle response, Failure to thrive, Joint contra...	OMIM:617864
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Joint contracture, Irritability, Exaggerated startle response	OMIM:616881
Tay-Sachs Disease	Memory impairment, Depression, Increased serum beta-hexosaminidase, Tremor, Short attention span,...	ORPHA:845
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Microcornea, Pancreatic fibrosis, Male pseudohe...	ORPHA:564
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Gm2 Gangliosidosis, Ab Variant	Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment	ORPHA:309246
Hyperekplexia 2	Astigmatism, Exaggerated startle response, Hiatus hernia	OMIM:614619
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnorm...	OMIM:227650
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Cinca Syndrome	Inflammatory abnormality of the eye, Retrobulbar optic neuritis, Uveitis, Pseudopapilledema	ORPHA:1451
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus	OMIM:620365
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal dege...	OMIM:613843
Microscopic Polyangiitis	Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Abnormal retinal vascu...	ORPHA:727
Cystinosis, Nephropathic	Recurrent corneal erosions, Male infertility, Male hypogonadism, Hypophosphatemic rickets, Hepato...	OMIM:219800
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Thyroiditis, Punctate keratitis, Keratoconjunctivitis sicca, Uveitis	OMIM:617388
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Posterior uveitis, Retinal pigment epitheli...	OMIM:605808
Disabling Pansclerotic Morphea Of Childhood	Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Hypocomplementemic Urticarial Vasculitis	Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Uveitis	ORPHA:36412
Granulomatosis With Polyangiitis	Chronic otitis media, Retinal hemorrhage, Episcleritis, Sinusitis, Keratitis, Conjunctivitis, Uve...	OMIM:608710
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Abnormal odontoid tissue morphology, Exaggerated startle resp...	ORPHA:79255
Lesch-Nyhan Syndrome	Podagra, Testicular atrophy	OMIM:300322
Steinert Myotonic Dystrophy	Posterior subcapsular cataract, Astigmatism, Hyperinsulinemia, Abnormality of thyroid physiology,...	ORPHA:273
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Primary amenorrhea, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonad...	OMIM:603457
Relapsing Polychondritis	Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc...	ORPHA:728
Cushing Disease	Amenorrhea, Memory impairment, Depression, Emotional lability, Decreased eosinophil count, Increa...	ORPHA:96253
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Flexion contracture, Exaggerated startle response	OMIM:618201
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Depression, Ly...	ORPHA:289390
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Conjunctivitis,...	ORPHA:906
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Blau Syndrome	Abnormal salivary gland morphology, Erythema nodosum, Skin rash, Posterior uveitis, Abnormal opti...	ORPHA:90340
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Nuclear pulverulent cataract, Sutural cataract, Patent ductus arteriosus	OMIM:612474
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Hallermann-Streiff Syndrome	Hypothyroidism, Cryptorchidism, Developmental cataract, Uveitis	ORPHA:2108
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Abnormal optic disc morphology	ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology	ORPHA:293967
Asparagine Synthetase Deficiency	Irritability, Hypoasparaginemia, Tremor, Exaggerated startle response, Failure to thrive	OMIM:615574
Rift Valley Fever	Skin rash, Uveitis, Retinal hemorrhage, Retinal vasculitis, Macular edema, Hepatitis, Infectious ...	ORPHA:319251
Nocardiosis	Scleritis, Abnormality of the adrenal glands, Thyroiditis, Chorioretinitis, Lymphadenitis, Perica...	ORPHA:31204
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Impaired glucose tolerance, Lymphopenia, Memory impairment, Depression, Se...	ORPHA:99889
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len...	OMIM:619539
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hype...	OMIM:613471
Lymphoproliferative Syndrome 2	EBV encephalitis, Recurrent pneumonia, Uveitis	OMIM:615122
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Contractures of the large joints, Exaggerated startle response, Cognitive impa...	OMIM:617527
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A...	ORPHA:85436
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response	OMIM:620451
Shigellosis	Myocarditis, Corneal ulceration, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia...	ORPHA:810
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Ar...	OMIM:617301
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Inguinal hernia, Cognitive impairment, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Leprosy	Abnormality of the adrenal glands, Iritis, Corneal ulceration, Testicular mass, Corneal perforati...	ORPHA:548
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Umbilical hernia	OMIM:149400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Scleritis, Cheilitis, Astigmatism, Corneal erosion, Corneal opacity, Episcleritis, Eczematoid der...	ORPHA:2273
Cystic Fibrosis	Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Biliary cirrhosis, Failure to thrive, He...	OMIM:219700
Stickler Syndrome	Chronic otitis media, Astigmatism, Abnormal vitreous humor morphology, Retinal detachment, Lattic...	ORPHA:828
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Contractures of the large joints, Dystonia, Exaggerated startle response	ORPHA:521426
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Bronchiectasis, Uveitis	OMIM:612387
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cohen Syndrome	Optic atrophy, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:193
Cogan Syndrome	Inflammatory abnormality of the eye, Episcleritis, Keratitis, Conjunctivitis, Scleritis, Uveitis	ORPHA:1467
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Maculopapular exanthema, Diabetes in...	ORPHA:797
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Subretinal deposits, Retinal dystrophy, Abnormal optic disc morphology	ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Coloboma, Facial palsy, Retinal coloboma, Abnormal optic disc morphology,...	ORPHA:508498
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Localized Scleroderma	Arthritis, Esophagitis, Hashimoto thyroiditis, Fasciitis, Uveitis	ORPHA:90289
Leptospirosis	Optic neuritis, Skin rash, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhage, Conjunc...	ORPHA:509
Juvenile Xanthogranuloma	Blepharitis, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Oculodentodigital Dysplasia	Cataract, Microcornea, Uveitis	OMIM:164200
Cystic Fibrosis	Sinusitis, Absent vas deferens, Male infertility, Bronchiectasis	ORPHA:586
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Patent foramen ovale, Exaggerated startle response, Pulmonic stenosis, Uterine prolapse, ...	ORPHA:438213
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Arthritis, Chorioretinitis, Optic n...	OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Knee osteoarthritis, Arthritis, Uveitis, Synovitis, Enthesitis, Iridocyclitis...	ORPHA:85408
Holoprosencephaly 2	Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hyaloid vasc...	OMIM:157170
Noonan Syndrome 1	Male infertility, Hypospadias, Synovitis, Hypogonadism, Patent ductus arteriosus, Cryptorchidism	OMIM:163950
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology	ORPHA:96121
Hepatoerythropoietic Porphyria	Corneal ulceration, Keratoconjunctivitis, Recurrent bacterial skin infections, Seborrhoeic blepha...	ORPHA:95159
Primary Sclerosing Cholangitis	Pancreatitis, Cholelithiasis, Thyroiditis, Hepatitis, Neoplasm of the gallbladder, Type I diabete...	ORPHA:171
Congenital Erythropoietic Porphyria	Corneal ulceration, Keratoconjunctivitis, Recurrent bacterial skin infections, Seborrhoeic blepha...	ORPHA:79277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Pauci-Immune Glomerulonephritis	Pancreatitis, Arteritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, ...	ORPHA:93126
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Chordee, Attention deficit hyperactivity disorder, Atrial septal de...	OMIM:619522

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	Life Stage
Liver - MPATH pathological process term hydropic degeneration	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Epididymis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological entity term steatosis	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological entity term cataract; lens extrusion	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological entity term germ cell defect	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological entity term germ cell defect	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term spermatogenesis defect	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological entity term cataract; lens extrusion	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological entity term steatosis	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term spermatogenesis defect	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Epididymis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological process term hydropic degeneration	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	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 Vps13b.

No publications found that use IMPC mice or data for Vps13b.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Vps13b^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue

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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Vps13b MGI:1916380

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Eye Morphology

Histopathology

Eye Morphology

Gross Pathology and Tissue Collection

Gross Pathology and Tissue Collection

X-ray

Histopathology

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Electrocardiogram (ECG)

Human diseases caused by Vps13b mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data