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Gene: Gna15 MGI:95770

Gene Summary

Name:

guanine nucleotide binding protein, alpha 15

Synonyms:

Galpha15, G[a]15

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal uterus morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Gna15^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged ovary	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
cataract	Gna15^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal vitreous body morphology	Gna15^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
enlarged spleen	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Gna15^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged testis	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal ovary morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged uterus	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Gna15^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Gna15^em1(IMPC)Mbp	HOM	Late adult	0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Human diseases caused by Gna15 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 Gna15 (0 diseases)
Human diseases predicted to be associated with Gna15 (1172 diseases)

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

The table below shows human diseases predicted to be associated to Gna15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia,...	OMIM:615524
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Megalencephaly	Macroorchidism, Long penis, Atrial septal defect	ORPHA:2477
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Macroorchidism, Long penis, Oligozoospermia	ORPHA:3000
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Ascites, Decreased response to growth hormone stimulation te...	ORPHA:91348
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Microphthalmia, Cryptorchidism, Ventricular septal defect	OMIM:613730
Partington Syndrome	Macroorchidism	ORPHA:94083
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo...	OMIM:613313
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Lujan-Fryns Syndrome	Macroorchidism, Atrial septal defect	ORPHA:776
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Opitz Gbbb Syndrome	Bifid scrotum, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular septa...	ORPHA:2745
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Trichomegaly	Cataract	OMIM:190330
Fragile X Syndrome	Macroorchidism, Mitral valve prolapse	ORPHA:908
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp...	OMIM:235200
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Polyembryoma	Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormal peritoneum morphology	ORPHA:180229
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Ventricular septal defect, ...	ORPHA:769
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Hepatic steatosis, Cryptorchidism, Enl...	ORPHA:91
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g...	ORPHA:785
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ...	ORPHA:1067
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries,...	ORPHA:2298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Ovarian Hyperstimulation Syndrome	Ascites, Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati...	ORPHA:64739
Ovarian Fibroma	Ascites, Abnormality of the ovary, Gonadal calcification, Peritonitis, Ovarian fibroma, Mesenteri...	ORPHA:314473
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Mccune-Albright Syndrome	Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin conce...	ORPHA:562
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Xk Aprosencephaly Syndrome	Microphthalmia, Atrial septal defect, Abnormal external genitalia, Ventricular septal defect	ORPHA:3469
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Mitral valve prolapse, Unilateral microphthalmos	OMIM:618874
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Leprechaunism	Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Hypertrophic cardiomyopathy, ...	ORPHA:508
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affecting the eye, Polycystic ovaries	ORPHA:1643
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries	OMIM:608709
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Ovarian Fibrothecoma	Ascites, Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Perito...	ORPHA:314478
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve...	ORPHA:8
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula...	OMIM:614876
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Cryptorchidism, Anophthalmia, Abnormal spleen morpho...	ORPHA:2470
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p...	ORPHA:90790
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Coats Disease	Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism	OMIM:613861
Congenital Rubella Syndrome	Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Anemia, Atrial septal de...	ORPHA:290
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, Cr...	OMIM:601186
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ...	OMIM:618805
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go...	OMIM:194072
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormally large globe, Abnormality of the uterus, Ascites, Pancreatic lymphangi...	ORPHA:1655
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microphthalmia	ORPHA:2528
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Ring Chromosome Y Syndrome	Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater...	ORPHA:261529
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration	OMIM:614292
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Non-Functioning Pituitary Adenoma	Secondary growth hormone deficiency, Male hypogonadism, Hypogonadism, Hypopituitarism, Decreased ...	ORPHA:91349
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr...	OMIM:143200
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro...	ORPHA:52901
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Micropenis, Microphthalmia, Hepatomegaly	OMIM:619185
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Meckel Syndrome, Type 8	Anophthalmia, Ambiguous genitalia, Microphthalmia, Pericardial effusion, Enlarged kidney	OMIM:613885
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Atrial septal defect, Ventricular septal defect	OMIM:309520
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Transverse vaginal s...	ORPHA:65681
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomegaly, He...	OMIM:600649
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus	OMIM:263210
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia	ORPHA:141333
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly	OMIM:620151
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Septate vagina, Scimitar anomaly, ...	OMIM:608978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, H...	ORPHA:2348
Stickler Syndrome Type 2	Cataract, Retinal detachment, Corneal opacity	ORPHA:90654
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Donnai-Barrow Syndrome	Bicornuate uterus, Abnormality of the uterus, Ventricular septal defect	ORPHA:2143
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Adams-Oliver Syndrome 4	Microphthalmia, Atrial septal defect, Ventricular septal defect	OMIM:615297
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Panc...	ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega...	ORPHA:83469
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Retinitis Pigmentosa 84	Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy	OMIM:618220
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:613731
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu...	ORPHA:95699
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:3085
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration	OMIM:193230
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly	OMIM:619064
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Carney Complex	Precocious puberty, Leydig cell neoplasia, Euthyroid multinodular goiter, Sertoli cell neoplasm, ...	ORPHA:1359
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C...	ORPHA:465508
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc...	OMIM:212140
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Posterior embryotoxon, Retinal detachment, Corneal opacity, Iris coloboma	ORPHA:1473
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	OMIM:601794
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Microphthalmia, Isolated 5	Cataract, Optic disc drusen, Bone spicule pigmentation of the retina, Retinal pigment epithelial ...	OMIM:611040
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Microphthalmia, Syndromic 8	Cryptorchidism, Microphthalmia	OMIM:601349
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome...	OMIM:619433
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Microphthalmia	OMIM:600118
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ambiguous genitalia, Ventricular septal defect	ORPHA:93267
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Isolated Thyroid-Stimulating Hormone Deficiency	Increased circulating prolactin concentration, Goiter, Prolonged neonatal jaundice, Macroorchidis...	ORPHA:90674
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Abnormal heart valve morphology...	ORPHA:99776
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Hepatic s...	OMIM:619048
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Pierpont Syndrome	Cryptorchidism, Microphthalmia	ORPHA:487825
Triploidy	Abnormality of the gallbladder, Cryptorchidism, Aplasia/Hypoplasia affecting the eye, Ambiguous g...	ORPHA:3376
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus, Quadricuspid aortic valve, Mitral valve prolapse	OMIM:606408
Diabetic Embryopathy	Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Ventricula...	ORPHA:1926
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology	ORPHA:435660
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Hypertrophic cardiomyopathy, Cataract, Abnormal heart valve morphology	ORPHA:1345
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Cryptorchidism, Abnormal aortic...	ORPHA:1194
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Pierpont Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:602342
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism	ORPHA:261318
Weill-Marchesani Syndrome	Aortic valve stenosis, Cataract, Ectopia lentis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Cataract 47	Cataract, Microcornea	OMIM:612018
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Pancytopenia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism	OMIM:617872
Pseudotrisomy 13 Syndrome	Cryptorchidism, Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal ...	OMIM:264480
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism	OMIM:618958
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Trisomy 13	Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t...	ORPHA:3378
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Mulibrey Nanism	Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Ovarian cyst...	OMIM:246200
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Polycystic ovaries	ORPHA:1580
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy	OMIM:615184
Gracile Bone Dysplasia	Ascites, Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Prune Belly Syndrome	Abnormality of the uterus, Tetralogy of Fallot, Decreased testicular size, Cryptorchidism, Ventri...	ORPHA:2970
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Preeclampsia	Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ...	ORPHA:275555
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Atrial septal defect, Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma	OMIM:613835
Acquired Generalized Lipodystrophy	Cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Acute pancreatitis	ORPHA:79086
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Hyp...	ORPHA:77298
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E...	OMIM:618052
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Polycyst...	ORPHA:79240
Nanophthalmos	Microphthalmia	ORPHA:35612
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol...	ORPHA:201
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico...	OMIM:615300
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating as...	OMIM:620609
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Microphthalmia	OMIM:619053
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atria...	OMIM:618494
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Extramedullary hematopoiesis, Hypogonadism, Persistence...	ORPHA:231222
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy...	ORPHA:432
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr...	ORPHA:3109
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri...	ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car...	OMIM:201475
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:164745
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly	OMIM:606069
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Cholestasis, Ascites, Cryptorchidism, Perimembranous ventricular septal...	OMIM:608104
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Hypergonadotropic hypogonadism, Polycyst...	OMIM:268020
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Microphthalmia, Hypospadias	ORPHA:494344
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Propionic Acidemia	Hepatomegaly, Cardiomyopathy	ORPHA:35
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Microphthalmia, Hypopla...	ORPHA:2328
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia	ORPHA:99931
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Biliary trac...	ORPHA:3191
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:398124
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Microphthalmia	OMIM:619879
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia	OMIM:300887
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:85284
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus, Ventricular septal defect	ORPHA:2438
Pagod Syndrome	Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital...	ORPHA:991
Fanconi Anemia, Complementation Group S	Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia	OMIM:617883
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Galactosemia I	Decreased liver function, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:230400
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Nanophthalmos 4	Microphthalmia	OMIM:615972
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly...	ORPHA:744
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Microphthalmia, Micropenis	OMIM:243310
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Peutz-Jeghers Syndrome	Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Iron deficiency anemi...	OMIM:175200
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:48431
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect	OMIM:602501
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hydrocele testis, Micropenis, Hypertrophic cardiomyopathy	OMIM:618810
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries	ORPHA:1770
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, ...	OMIM:600901
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,...	OMIM:309801
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Atrial septal defect, Cryptorchidism, Microphthalmia	ORPHA:2728
Kapur-Toriello Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Microp...	OMIM:244300
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,...	OMIM:310600
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Right at...	ORPHA:57777
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Meckel Syndrome	Accessory spleen, Situs inversus totalis, Cryptorchidism, Congenital hepatic fibrosis, True herma...	ORPHA:564
Fryns Syndrome	Tetralogy of Fallot, Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, Bicornua...	ORPHA:2059
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:404440
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Meckel Syndrome, Type 4	Microphthalmia, Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system...	OMIM:120200
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:2547
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Abnormal heart morphology, Cryptorchidism, Hypoplasia of the thymus, Hepato...	OMIM:214110
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Biliary trac...	OMIM:209900
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv...	OMIM:610125
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Microphthalmia	OMIM:616395
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, ...	OMIM:227650
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst	OMIM:613546
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus	OMIM:191830
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Aspartylglucosaminuria	Hepatomegaly, Macroorchidism, Splenomegaly	ORPHA:93
Microsporidiosis	Lymphadenitis, Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Decrea...	ORPHA:2552
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism, Ventricular ...	OMIM:235255
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp...	OMIM:616897
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,...	OMIM:603467
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Abnorm...	ORPHA:93111
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Subvalvular aortic stenosis, A...	OMIM:613001
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy...	ORPHA:261534
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:228390
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Hepatome...	OMIM:615630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Fanconi Anemia	Cryptorchidism, Atrial septal defect, Microphthalmia, Hypospadias, Pyridoxine-responsive siderobl...	ORPHA:84
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Microphthalmia	OMIM:613155
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr...	ORPHA:2237
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:367
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr...	OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventri...	ORPHA:369891
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma	OMIM:212550
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl...	ORPHA:99812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Donnai-Barrow Syndrome	Hypoplasia of the iris, Bicornuate uterus, Ventricular septal defect	OMIM:222448
Histiocytoid Cardiomyopathy	Congenital aphakia, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Microphthalmia, ...	ORPHA:137675
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Microphthalmia	OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Microphthalmia	OMIM:214150
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Marden-Walker Syndrome	Cryptorchidism, Dextrocardia, Microphthalmia, Micropenis, Hypospadias	OMIM:248700
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu...	OMIM:617925
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, H...	ORPHA:280365
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism	OMIM:201100
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Prem...	ORPHA:371428
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Alg9-Cdg	Periportal fibrosis, Right ventricular dilatation, Abnormal heart morphology, Hepatic cysts, Vent...	ORPHA:79328
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Refsum Disease	Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Moebius Syndrome	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia	OMIM:157900
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom...	OMIM:130650
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Amyloidosis, Finnish Type	Cataract, Cardiomyopathy, Optic neuropathy, Cardiac amyloidosis, Lattice corneal dystrophy	OMIM:105120
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias	ORPHA:2505
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly	ORPHA:27
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Patent forame...	OMIM:609053
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Macroorchidism, Neutropenia	OMIM:208400
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Ventricular septal defect, Anemia, Ret...	OMIM:227645
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora	OMIM:614222
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Okamoto Syndrome	Aortic valve stenosis, Abnormally large globe, Abnormal heart morphology, Abnormal left ventricle...	ORPHA:2729
Fryns Syndrome	Ectopic pancreatic tissue, Polysplenia, Bifid scrotum, Cryptorchidism, Ventricular septal defect,...	OMIM:229850
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology	ORPHA:3320
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormal heart morphology, Muscular ventricular septal defect, Endometriosis, Perimembranous vent...	ORPHA:363444
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Valvular pulmonary stenosis, Septate vagina, Patent foramen ovale, Bicuspid...	OMIM:300707
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:614034
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Macular hypoplasia, Labial hypoplasi...	OMIM:147791
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:603909
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Endometriosis	OMIM:613680
Adams-Oliver Syndrome	Ascites, Tetralogy of Fallot, Leukopenia, Portal hypertension, Abnormal pulmonary valve morpholog...	ORPHA:974
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Seckel Syndrome 2	Hypospadias, Microphthalmia	OMIM:606744
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Cowden Syndrome 1	Varicocele, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis	OMIM:158350
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Timothy Syndrome	Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Perineal fistula, Truncus arteriosus, Atrial septal defe...	ORPHA:2538
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Leukemia, Abnormal heart morphology, Pancytopenia,...	OMIM:227646
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Abnormality of the lymphatic system	ORPHA:276280
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Microphthalmia, Cryptorchidism, Ventricular septal defect	OMIM:612530
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma	OMIM:617100
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Mitral atresia, Labial hypoplasia, Abnormal cardiac septum morphology, Bico...	ORPHA:140952
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Ventricular septal defect, Atrial septal defect, Microphthalmia, Hypospadias	OMIM:616449
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst	ORPHA:454840
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Microphth...	OMIM:619148
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni...	OMIM:608013
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova...	ORPHA:90795
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Annular pancreas, Tetralogy of Fallot, Atrioventr...	OMIM:265380
Meckel Syndrome, Type 5	Bile duct proliferation, Microphthalmia	OMIM:611561
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascites, Hepatosplenom...	OMIM:619487
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism	OMIM:618440
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia	ORPHA:3301
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor...	OMIM:612541
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,...	OMIM:616468
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Hyperparathyroidism, Enlarged kidney, Ovarian cyst	OMIM:618188
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis	OMIM:151660
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Anemi...	ORPHA:85450
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Micro Syndrome	Cryptorchidism, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia	ORPHA:2510
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Cowden Syndrome 6	Varicocele, Hydrocele testis, Ovarian cyst, Goiter	OMIM:615109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid...	OMIM:241410
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Aniridia 3	Cataract, Aniridia	OMIM:617142
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Goiter	OMIM:615108
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypoplastic labia minora, Hypoplastic labia majora, Hepatoblastoma, Hypoplastic ni...	OMIM:269150
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
46,Xx Gonadal Dysgenesis	Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal...	ORPHA:243
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Macrophage Activation Syndrome	Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf...	ORPHA:158061
Frontonasal Dysplasia 1	Tetralogy of Fallot, Microphthalmia	OMIM:136760
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula...	OMIM:608836
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hypogonadotropic hy...	OMIM:206900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Martsolf Syndrome 1	Cardiomyopathy, Cryptorchidism, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis	OMIM:212720
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Ambiguous ...	OMIM:249000
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiom...	OMIM:270400
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Alagille Syndrome	Cholestasis, Cryptorchidism, Reduced number of intrahepatic bile ducts, Ventricular septal defect...	ORPHA:52
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyte count, Lym...	OMIM:612783
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Anopht...	OMIM:219000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy...	OMIM:615895
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo...	ORPHA:781
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Bone marrow hypocellularity, Decreased pineal volume	OMIM:301108
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism...	ORPHA:2905
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Mosaic Trisomy 1	Penile hypospadias, Ventricular septal defect, Hepatic agenesis, Microphthalmia, Micropenis	ORPHA:1692
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Patent foramen ovale, Hypoplastic labia majo...	OMIM:263650
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morphology, Microphthalmia, Thyroid ...	ORPHA:2166
Meckel Syndrome, Type 2	Bile duct proliferation, Microphthalmia	OMIM:603194
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala...	ORPHA:308552
Short Syndrome	Rieger anomaly, Ovarian cyst	OMIM:269880
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal...	ORPHA:228308
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ...	ORPHA:2137
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:899
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Left atrial enlargement, Hepatomegaly...	ORPHA:75249
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia	OMIM:614833
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Abnormal...	ORPHA:1667
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Cohen Syndrome	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Neutropenia, Microphthalmia	ORPHA:193
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:2556
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys	ORPHA:958
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asplenia, Hyp...	OMIM:273395
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration, Microphthalmia	OMIM:612379
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Microphthalmia	OMIM:618804
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma	ORPHA:60
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Cryptorchidism, Ventricular septal defect, Hypoplastic...	ORPHA:3138
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly, Pericarditis	OMIM:249100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ...	OMIM:308230
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,...	OMIM:611881
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Lens coloboma, Patent foramen ovale, Microphthalmia	OMIM:618914
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Orofaciodigital Syndrome I	Hepatic fibrosis, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Pancreatic cysts	OMIM:311200
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Atrial septal defect, M...	ORPHA:464738
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Syndromic Diarrhea	Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormality of the liver, Lymph...	ORPHA:84064
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice	OMIM:613095
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa...	ORPHA:263479
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia	ORPHA:250989
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Hypoplastic left heart, Supernumerary nipple, Tetralogy...	OMIM:100300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas...	ORPHA:2250
Lissencephaly 8	Microphthalmia	OMIM:617255
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S...	ORPHA:3464
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Cholestasis, Tetralogy of Fallot, Splenomegaly, Ventricular se...	OMIM:222470
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia	ORPHA:370959
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Abnormal morphology of female internal genitalia, S...	ORPHA:1775
Trisomy 18	Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular septal defect, Atri...	ORPHA:3380
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Microphthalmia, Micropenis	OMIM:614083
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Holoprosencephaly	Tetralogy of Fallot, Abnormality of the spleen, Panhypopituitarism, Abnormal pulmonary valve morp...	ORPHA:2162
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder, Microphthalmia	OMIM:184705
Mosaic Variegated Aneuploidy Syndrome	Ascites, Vaginal neoplasm, Ambiguous genitalia, Subvalvular aortic stenosis, Atrial septal defect...	ORPHA:1052
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Hepatic steatosis, Increased hepatic glycogen content, Pol...	ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy...	OMIM:614643
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H...	OMIM:241080
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism, Microphthalmia	ORPHA:284160
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus, Ventricular septal defect	ORPHA:411709
Microphthalmia, Lenz Type	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:568
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:171
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of the uterus, Tetralogy of Fallot, Abnormal pulmonary valve morpholo...	ORPHA:567
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:230000
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ...	OMIM:612109
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Splenomegaly, Hepatic steatosis, Ova...	OMIM:188400
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Garg-Mishra Progeroid Syndrome	Microphthalmia, Microvesicular hepatic steatosis	OMIM:620601
3Q29 Microdeletion Syndrome	Subvalvular aortic stenosis, Hypospadias, Microphthalmia	ORPHA:65286
Rhombencephalosynapsis	Septo-optic dysplasia, Abnormality of the uterus	ORPHA:59315
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:614230
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ...	OMIM:620371
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo...	ORPHA:2232
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
2Q31.1 Microdeletion Syndrome	Microphthalmia, Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:251014
Joubert Syndrome 22	Microphthalmia	OMIM:615665
3P25.3 Microdeletion Syndrome	Microphthalmia, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	ORPHA:435638
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Neuroendocrine Neoplasm Of Appendix	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, A...	ORPHA:100079
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Hy...	ORPHA:309854
Bardet-Biedl Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of ...	ORPHA:110
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hepatomegaly	OMIM:617088
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Abnormal aortic valve morpholo...	ORPHA:1304
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Cardiomyopathy	OMIM:105210
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Anemia, Cerv...	OMIM:130050
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Ovarian carcinoma, Ovarian fibroma, Microphthalmia	OMIM:109400
Mend Syndrome	Aortic valve stenosis, Cryptorchidism, Abnormal heart morphology, Microphthalmia	ORPHA:401973
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia	ORPHA:2712
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti...	OMIM:245600
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Patent foramen ovale, ...	OMIM:619488
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s...	OMIM:146510
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ...	ORPHA:77261
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Microphthalmia...	OMIM:616975
Cockayne Syndrome B	Hypoplasia of the iris, Splenomegaly, Cryptorchidism, Micropenis, Microphthalmia, Hepatomegaly	OMIM:133540
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Microphtha...	OMIM:613884
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:614324
Microphthalmia, Syndromic 2	Aortic valve stenosis, Septate vagina, Cryptorchidism, Mitral valve prolapse, Ventricular septal ...	OMIM:300166
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Patent foramen ovale, Aplasia of the thymus, Hypoplastic nipples, Atrial septal de...	OMIM:620186
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hyp...	ORPHA:116
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia	OMIM:300952
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepati...	ORPHA:14
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Exocrine pancreatic insufficiency, Tetralogy of Fallot, Atrioventricular canal defect, Ventricula...	ORPHA:508498
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal mitral valve morphology, Abnormal aort...	ORPHA:581
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Biliar...	OMIM:268300
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen...	OMIM:603457
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Abnormal heart morphology, Microphthalmia	OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Microphthalmia...	OMIM:253800
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple	OMIM:200980
Ogden Syndrome	Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo...	OMIM:300855
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia...	OMIM:181450
Pearson Syndrome	Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra...	ORPHA:699
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Cerebrooculofacioskeletal Syndrome 4	Abnormal heart morphology, Bilateral microphthalmos	OMIM:610758
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pe...	OMIM:261740
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Pulmonic stenosis, Developmental cataract, Remnants of the hyaloi...	OMIM:620185
Treacher-Collins Syndrome	Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Rec...	ORPHA:861
Diaphragmatic Hernia 4, With Cardiovascular Defects	Cryptorchidism, Ventricular septal defect, Aortopulmonary window, Hepatomegaly, Optic nerve hypop...	OMIM:620025
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:276700
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Fibrous Dysplasia Of Bone	Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon...	ORPHA:249
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy...	ORPHA:51
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Small pituitary gland, Fetal ascites, Cholestasis, Mitral atresia, Hepato...	OMIM:619503
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Currarino Syndrome	Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fallot, Cryptorchidi...	ORPHA:3472
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Splenomegaly, Pancreatitis, Pancreatic f...	OMIM:232220
Wolf-Hirschhorn Syndrome	Accessory spleen, Precocious puberty, Rieger anomaly, Cryptorchidism, Biliary tract abnormality, ...	OMIM:194190
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Splenomega...	OMIM:256040
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Abnormal cardiac septum morphology, Microphthalmia	ORPHA:1352
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Phace Association	Microphthalmia, Lingual thyroid, Optic nerve hypoplasia, Ventricular septal defect	OMIM:606519
Monosomy 18P	Microphthalmia	ORPHA:1598
Monosomy 9Q22.3	Ovarian fibroma, Cardiac fibroma, Microphthalmia	ORPHA:77301
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect	OMIM:614424
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre...	ORPHA:565612
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Acute myeloid leukemia, Atrial septal defect, Microph...	OMIM:610832
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Hallermann-Streiff Syndrome	Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Tetralogy of Fallot, Abnorm...	ORPHA:857
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Rothmund-Thomson Syndrome, Type 2	Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia	OMIM:268400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Townes-Brocks Syndrome 1	Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe...	OMIM:107480
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Acute lymphoblastic leuk...	OMIM:223370
Temtamy Syndrome	Microphthalmia	OMIM:218340
Fraser Syndrome 2	Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia	OMIM:617666
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp...	OMIM:236670
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Familial Mediterranean Fever	Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:252500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Bifid scrotum, Cryptorchidism, Atrial septal defect, Mic...	OMIM:609945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Microphthalmia	OMIM:617244
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchid...	ORPHA:138
Charge Syndrome	Lymphopenia, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Ventricular septal defect, ...	OMIM:214800
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97278
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse, Ventricular septal defect	OMIM:123700
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Bicornuate uterus, Ventricular septal defect	OMIM:154400
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Cardiomyopathy, Go...	ORPHA:33364
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atri...	ORPHA:672
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Ventricular septal defect	ORPHA:251038
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia	OMIM:260660
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Microphthalmia	OMIM:601675
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Cryptorchidism, Microphthalmia	OMIM:616300
Phace Syndrome	Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum m...	ORPHA:42775
Renpenning Syndrome 1	Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Phimosis, Ventricular sep...	OMIM:309500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Microphthalmia	ORPHA:3186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Bohring-Opitz Syndrome	Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology	ORPHA:97297
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:881
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Treacher Collins Syndrome 1	Abnormal heart morphology, Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morph...	OMIM:154500
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, Microphtha...	ORPHA:90324
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p...	ORPHA:97283
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Ambiguous genitalia, Hypoplasia of...	ORPHA:93271
Norrie Disease	Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Micropht...	ORPHA:649
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Abnormal heart morphology, Cryptorchidism, Bicuspid aortic valve, L...	OMIM:612289
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia	ORPHA:3103
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosi...	OMIM:219700
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Ventricular septal defect, Hypoplastic labia majora, H...	OMIM:261540
Myhre Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphth...	OMIM:139210
Focal Dermal Hypoplasia	Hypoplasia of the iris, Acute hepatic failure, Ventricular septal defect, Abnormal cardiac septum...	ORPHA:2092
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia	OMIM:234100
Peters Plus Syndrome	Hypoplastic left heart, Cryptorchidism, Pulmonic stenosis, Abnormal cardiac septum morphology, Hy...	ORPHA:709
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Macular hypoplasia, Perineal fistula, Endometriosis	OMIM:614075
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala...	ORPHA:365
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Aplasia/hypoplasia of the uterus, Cryptorchidism, Ventricular septal defec...	ORPHA:96121
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, H...	OMIM:308300
Cockayne Syndrome	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cryptorchidism, Microphtha...	ORPHA:191
Absence Of The Pulmonary Artery	Tetralogy of Fallot, Abnormal heart morphology, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microphthalmia	OMIM:156610
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:607323
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Monosomy 9P	Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:261112
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Increased circulating prolactin concentration, Abnormal heart morphology, Cry...	ORPHA:438213
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	ORPHA:50
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos	ORPHA:93325
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:616734
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Rodrigues Blindness	Microphthalmia	OMIM:268320
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Williams Syndrome	Precocious puberty, Aplasia/Hypoplasia of the iris, Cholelithiasis, Hypertrophic cardiomyopathy, ...	ORPHA:904
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Aplasia of the sweat glands	OMIM:612132
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Patent foramen ovale, Blue irides, Remnants of the hyaloid...	OMIM:619539
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Microphthalmia, Ventricular septal defect	OMIM:153400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Ventricular septal defect	OMIM:272950
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	OMIM:304050
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Abnormal heart morphology, Cryptorchidism, Ventricular septa...	OMIM:235730
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Uterine prolapse, Mi...	ORPHA:286
Microphthalmia With Limb Anomalies	True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Proboscis Lateralis	External genital hypoplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve...	ORPHA:141099
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia	ORPHA:468631
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Supernumerary nipple	ORPHA:464
Holoprosencephaly 1	Micropenis, Microphthalmia, Single ventricle	OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Alström Syndrome	Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Oligoz...	ORPHA:64
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Microphthalmia	OMIM:127000
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Azoospermia, Cryptorchidism, Thrombocytopenia, Microphthalmia, Anemia, Bupht...	ORPHA:534
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Aortic valve stenosis, Bifid scrotum, Abnormal heart morphology, Tetralogy of Fallo...	ORPHA:261537
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Bicornuate uterus, Cryptorchidism, Lacrimal gland aplasia	ORPHA:2363
Cornelia De Lange Syndrome	Abnormality of the uterus, Cryptorchidism, Ventricular septal defect, Phthisis bulbi, Hypoplastic...	ORPHA:199
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aplasia of ...	OMIM:135900
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system	ORPHA:637
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect	ORPHA:268249
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia	ORPHA:2526
Aneurysm-Osteoarthritis Syndrome	Abnormal heart morphology, Left ventricular hypertrophy, Uterine prolapse, Pulmonic stenosis	ORPHA:284984
Mowat-Wilson Syndrome	Webbed penis, Aortic valve stenosis, Bifid scrotum, Abnormal heart morphology, Tetralogy of Fallo...	ORPHA:2152
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Acro-Renal-Ocular Syndrome	Tetralogy of Fallot, Optic disc hypoplasia, Microphthalmia	ORPHA:959
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Aortic valve stenosis, Bifid scrotum, Abnormal heart morphology, Tetralogy of Fallo...	ORPHA:261552
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Focal Dermal Hypoplasia	Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla...	OMIM:305600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Branchiooculofacial Syndrome	Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Duplic...	OMIM:113620
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Bilateral microphthalmos, Exocrine pancreatic insufficiency, Abnorma...	ORPHA:508488
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic...	OMIM:276820
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Cervical insufficiency, Uterine prolapse, Mitral valve prolapse	ORPHA:287
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Pancreatic calcification, Cardiomegaly, Hepatic calcification, ...	ORPHA:51608
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Microphthalmia, Syndromic 6	Small scrotum, Cryptorchidism, Anophthalmia, Microphthalmia, Female hypogonadism, Anterior hypopi...	OMIM:607932
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Cystocele, Uterine prolapse, Mitral valve prolapse, Bicuspid aortic valv...	OMIM:613795
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Microphthalmia	OMIM:309000
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Microphallus, Decreased response to growth hormone stimulation tes...	OMIM:613406
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven...	OMIM:612474
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Holoprosencephaly 7	Panhypopituitarism, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Hypertrophic cardiomyopathy, Cryptorc...	OMIM:601803
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tetralogy of Fallot, Microphthalmia	ORPHA:306542
Holoprosencephaly 2	Iris coloboma, Remnants of the hyaloid vascular system, Single ventricle	OMIM:157170
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Microphthalmia, Syndromic 1	Cryptorchidism, Anophthalmia, Bicuspid aortic valve, Microphthalmia, Hypospadias	OMIM:309800
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hemolytic anemia, Microphthalmia	OMIM:175780
Craniofacial Microsomia 1	Tetralogy of Fallot, Microphthalmia, Anophthalmia, Ventricular septal defect	OMIM:164210

Histopathology

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

There is no histopathology data for Gna15

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Gna15.

No publications found that use IMPC mice or data for Gna15.

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MGI Allele	Allele Type	Produced
Gna15^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gna15^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gna15^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Gna15^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gna15 MGI:95770

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

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X-ray

Human diseases caused by Gna15 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data