Gene Summary

Name:
guanine nucleotide binding protein, alpha 15
Synonyms:
Galpha15,  G[a]15

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged spleen Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Gna15em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Gna15em1(IMPC)Mbp HOM Early adult 0.00
enlarged ovary Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged testis Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
small heart Gna15em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged uterus Gna15em1(IMPC)Mbp HOM Late adult 0.00
small heart Gna15em1(IMPC)Mbp HOM Late adult 0.00
microphthalmia Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged liver Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Microphthalmia, Syndromic 12
Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Microphthalm... OMIM:615524
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Ethanolaminosis
Cardiomegaly OMIM:227150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly, Micropenis OMIM:613861
Adenomyosis
Adenomyosis OMIM:600458
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Microphthalmia ORPHA:3434
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Partington Syndrome
Macroorchidism ORPHA:94083
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Abnormality of the gallbladder, Biliary tract neoplas... ORPHA:2869
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism ORPHA:908
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Microphthalmia, Anemia, Ascites, J... ORPHA:858
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatoc... OMIM:235200
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Opitz Gbbb Syndrome
Atrial septal defect, Bicornuate uterus, Bifid scrotum, Hypospadias, Ventricular septal defect, E... ORPHA:2745
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Rabson-Mendenhall Syndrome
Precocious puberty, Atrial septal defect, Long penis, Ventricular septal defect, Enlarged ovaries... ORPHA:769
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy ORPHA:2229
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:608540
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Polyembryoma
Abdominal mass, Abnormality of the peritoneum, Isosexual precocious puberty, Macroorchidism ORPHA:180229
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal salivary gland morphology, Thrombocytopenia, Enlarged ovaries, Polycystic ov... ORPHA:2298
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia ORPHA:3469
Ovarian Fibroma
Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the... ORPHA:314473
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... ORPHA:64739
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Dilated cardiomyopathy, Azo... OMIM:602390
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Bilateral ... OMIM:618652
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Mitral valve prolapse, Unilateral microphthalmos, Macroorchidism OMIM:618874
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Pancreatitis, Ovarian cyst... ORPHA:562
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Leprechaunism
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... ORPHA:508
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Ovarian Fibrothecoma
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... ORPHA:314478
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... OMIM:601186
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... ORPHA:8
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... ORPHA:370
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A... ORPHA:2470
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o... ORPHA:290
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Preeclampsia
Polycystic ovaries, Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thromb... ORPHA:275555
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Cardiomyopathy, Cardio... OMIM:617713
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... ORPHA:91349
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly OMIM:269920
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypogonadism, Pancytopenia, Hepatic steatosis OMIM:617872
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hepatomegaly, Thrombocytopenia, Anemia, Ascites ORPHA:2123
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Micropenis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Pulmonary lymphangie... ORPHA:1655
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... ORPHA:848
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Primary Lipodystrophy
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy ORPHA:90970
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly OMIM:613730
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... ORPHA:457083
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Joubert Syndrome 37
Hepatomegaly, Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism OMIM:619185
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Splenogonadal fusion... OMIM:156810
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... OMIM:608978
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Pelvic mass, Transverse vagin... ORPHA:65681
Ataxia-Telangiectasia
Lymphopenia, Elevated hepatic transaminase, Polycystic ovaries, Aplasia/Hypoplasia of the thymus,... ORPHA:100
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... ORPHA:615
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias, Hypogonadism ORPHA:141333
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos ORPHA:3411
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepati... ORPHA:2348
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Atrial septal defect, Macroorchidism OMIM:309520
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism ORPHA:363741
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Abnormal heart morphology OMIM:263210
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hepatomegaly, Hypertrophic cardiomyopathy, Cirrhosis, Clitoral hyp... ORPHA:528
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... OMIM:606003
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hypertrophic cardiomyopa... ORPHA:79083
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatomegaly ORPHA:79085
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism... ORPHA:465508
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... OMIM:619151
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:615297
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Ascites, Cardiomyopat... OMIM:256550
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Donnai-Barrow Syndrome
Ventricular septal defect, Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular... ORPHA:83469
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomyopathy OMIM:610717
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size ORPHA:3085
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... OMIM:618280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Cholestasis, Hepatocell... ORPHA:264580
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Ambiguous genitalia, female, Bicornuate uterus, Quadricuspid aortic valve OMIM:606408
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:435651
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Cog7-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Jaundice, Abnormal heart morphology ORPHA:79333
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... ORPHA:95699
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619665
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia, Microphthalmia OMIM:600118
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Endocardial fibroelastosis,... ORPHA:99776
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... ORPHA:90674
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Ambiguous genitalia, Microphthalmia ORPHA:93267
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Triploidy
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hepatomegaly, Hypoplasi... ORPHA:3376
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hepatomegaly, Hypospadias, Abnormal aortic valve morphology,... ORPHA:1194
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619203
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Micropenis, Abnormality of the pancreas, Tetralogy of Fallo... ORPHA:1926
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly OMIM:618958
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Bicornuate uterus, Micropenis, Ventricular septal defect... OMIM:264480
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Glycogen Storage Disease Iii
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... OMIM:232400
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... ORPHA:3097
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology, Hepatomegaly ORPHA:435660
Trisomy 20P
Hypospadias, Cryptorchidism, Macroorchidism ORPHA:261318
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Micropenis OMIM:602342
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular ... ORPHA:2970
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Trisomy 13
Atrial septal defect, Anophthalmia, Abnormal morphology of female internal genitalia, Ventricular... ORPHA:3378
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situs inver... OMIM:615415
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Donohue Syndrome
Precocious puberty, Ovarian cyst, Cholestasis, Long penis, Clitoral hypertrophy, Hepatic fibrosis... OMIM:246200
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Ascites, Cardiomegaly, Pericardial constriction OMIM:253250
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia OMIM:602361
Acquired Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy ORPHA:79086
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis ORPHA:2849
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Prostate cancer, Splenomegaly, Hepatic failure, Hemophagocytosis, Hepatosplenomegaly... ORPHA:158057
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Microphthalmia, Crypto... ORPHA:77298
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Elevated... ORPHA:79240
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Clitoral hypertr... OMIM:614866
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Hepatomegaly OMIM:619433
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Cirrhosis, Hepatic steatosis OMIM:604367
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... ORPHA:201
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis, Cardiomyopathy OMIM:606069
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... OMIM:618052
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Atrial septal... OMIM:602782
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Aortic valve stenosis, Splenomegaly, Pancreatic fibrosis, Cir... OMIM:208540
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos
Microphthalmia ORPHA:35612
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Splenomegaly, Buphthalmos, Neoplasm of the thymus, Testicular neo... ORPHA:744
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Decreased liver function, Anemia of inadequate production, He... ORPHA:231222
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatic ... OMIM:201475
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the urethra, Ventricular septal defect, Abnormalit... ORPHA:2438
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Bicornuate uterus, Ventricular septal defect, Shawl scrotum OMIM:145420
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice ORPHA:890
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia OMIM:619053
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice OMIM:618528
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Cryptorchidism, As... OMIM:608104
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Kapur-Toriello Syndrome
Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Hypoplastic ... ORPHA:2328
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Decreased testicular size, Microphthalmia ORPHA:85284
Mogs-Cdg
Hydrocele testis, Hepatomegaly, External genital hypoplasia, Atrial septal defect, Left ventricul... ORPHA:79330
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Biliary trac... ORPHA:3191
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiom... ORPHA:42
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Cryptorchidism, Abnormal heart morphology ORPHA:494344
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatitis, Elevated hepa... OMIM:269700
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Elevated hepatic transaminase OMIM:268020
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transaminase, Labial ... OMIM:608594
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites ORPHA:2414
Pagod Syndrome
Hypoplastic left heart, Agonadism, Abnormality of the spleen, Abnormal morphology of female inter... ORPHA:991
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Meckel Syndrome 14
Single ventricle, Ambiguous genitalia, Hepatic fibrosis, Microphthalmia, Aplasia of the uterus OMIM:619879
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Galactosemia
Hepatomegaly, Hepatic failure, Cirrhosis, Abnormal erythrocyte enzyme level, Elevated hepatic tra... ORPHA:352
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Hy... OMIM:115197
Galactosemia I
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu... OMIM:230400
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Accessory spleen, Anophthalmia... ORPHA:564
Propionic Acidemia
Hepatomegaly, Cardiomyopathy ORPHA:35
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Microphthalmia OMIM:617883
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Atrial septal defect, Small scrotum, Microphthalmia ORPHA:2728
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated hepatic transaminase, Hypogonadism, Cryptorchidism, Hepatic steatosis OMIM:615381
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Leukemia, Microphthalmia OMIM:602501
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice OMIM:618549
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Microphthalmia, Cryptorchidism OMIM:243310
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Ventricular septal defect, Gonadal dysgenesis ORPHA:1770
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicuspid aortic valve, Bicornuate uterus, Clitoral hypertrophy, Rectovaginal f... OMIM:300707
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary ORPHA:2795
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Uterine neoplasm, Ovarian cyst, Biliary tract abnormality, Iron deficie... OMIM:175200
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopen... OMIM:600901
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Kapur-Toriello Syndrome
Atrial septal defect, Micropenis, Ventricular septal defect, Microphthalmia, Cryptorchidism, Hypo... OMIM:244300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia, Atrioventricular canal defect OMIM:619135
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Clitoral hypertrophy, Cr... OMIM:214110
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Microsporidiosis
Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Peritonitis, Abnormality ... ORPHA:2552
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology ORPHA:1227
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Micropenis OMIM:618810
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Fryns Syndrome
Abnormal cardiac septum morphology, Bicornuate uterus, Hypospadias, Tetralogy of Fallot, Micropht... ORPHA:2059
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus OMIM:616589
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopen... OMIM:227650
Meckel Syndrome, Type 4
Bile duct proliferation, Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:611134
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Hypospadias, Ovotestis, Vent... OMIM:309801
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hepatic failure, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, Ventricular ... OMIM:235255
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypoplasia of the i... OMIM:613001
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Bardet-Biedl Syndrome 1
Micropenis, Left ventricular hypertrophy, Biliary tract abnormality, Hepatic fibrosis, Decreased ... OMIM:209900
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Ventricular septal defect, Labial hypertrophy, Cryptorchidism, ... ORPHA:96191
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia, Abdominal adhesions, Microphthalmia, Bilateral cryptorchidism OMIM:616395
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr...