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Gene: Csnk2a2 MGI:88547

Gene Summary

Name:

casein kinase 2, alpha prime polypeptide

Synonyms:

CK2, 1110035J23Rik

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
decreased exploration in new environment	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	7.37×10^-05
enlarged spleen	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	4.94×10^-05
decreased thigmotaxis	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	2.36×10^-07
abnormal behavior	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	2.52×10^-07
small testis	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	1.09×10^-09
abnormal skin morphology	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	7.37×10^-06
male infertility	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased vertical activity	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	1.51×10^-13
decreased circulating glucose level	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-05
abnormal spleen morphology	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean corpuscular volume	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	1.49×10^-06
increased circulating bilirubin level	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	3.48×10^-06
decreased anxiety-related response	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	4.41×10^-06
abnormal testis morphology	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating triglyceride level	Csnk2a2^em1(IMPC)Mbp	HOM	Early adult	1.35×10^-05

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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

123 Images

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X-ray

XRay Images Whole Body Lateral Orientation

57 Images

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Human diseases caused by Csnk2a2 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 Csnk2a2 (0 diseases)
Human diseases predicted to be associated with Csnk2a2 (775 diseases)

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

The table below shows human diseases predicted to be associated to Csnk2a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism	OMIM:620103
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Deleted in azoospermia	Azoospermia	OMIM:400003
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Morbid Obesity And Spermatogenic Failure	Infertility, Oligozoospermia, Azoospermia	OMIM:615703
Young Syndrome	Azoospermia	OMIM:279000
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A...	ORPHA:320391
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp...	ORPHA:52901
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil...	ORPHA:261529
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Malaria	Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia...	ORPHA:673
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea	OMIM:229070
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly, Dementia	ORPHA:2274
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia	ORPHA:2183
Crigler-Najjar Syndrome Type 1	Memory impairment, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal...	ORPHA:79234
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Adrenal Hypoplasia, Congenital	Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:300200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Ataxia, Hypogonadism, Neon...	ORPHA:3363
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropen...	ORPHA:8
Ciliary Dyskinesia, Primary, 12	Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce...	OMIM:612650
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubi...	OMIM:269920
Hypercholanemia, Familial, 2	Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy...	OMIM:619256
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega...	OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Sideroblastic anem...	OMIM:617021
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia	OMIM:612649
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Glucose intolerance, Azoospermia, Hepatocellular carcinoma, Cardiomyopat...	OMIM:235200
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid...	OMIM:614837
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Beta-Thalassemia Intermedia	Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decrea...	ORPHA:231222
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Ciliary Dyskinesia, Primary, 40	Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia	OMIM:618300
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms	OMIM:614874
Hypogonadism-Cataract Syndrome	Infertility, Male hypogonadism, Hypogonadism	OMIM:240950
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi...	ORPHA:231226
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali...	OMIM:228300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity...	ORPHA:811
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Macroorchidism, postpubertal, Infertility, Oligozoospermia, Impoten...	ORPHA:91348
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Rotor Syndrome	Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia	ORPHA:3111
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Reduced bone...	ORPHA:848
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis	OMIM:614897
Classic Galactosemia	Delayed puberty, Reduced bone mineral density, Abnormal erythrocyte enzyme concentration or activ...	ORPHA:79239
48,Xyyy Syndrome	Male hypogonadism, Azoospermia	ORPHA:99329
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor...	ORPHA:2169
Pituitary Dermoid And Epidermoid Cysts	Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism	ORPHA:91351
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Delayed puberty, Increased he...	ORPHA:369
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Increased circulating iron...	OMIM:613313
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short attention span, Osteoporosis, Neonatal hyperbilirubinemia, Hypogonadism, Att...	ORPHA:73272
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo...	ORPHA:261519
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Azoospermia, Decreased transferrin saturation, Reticulocytopenia, Ab...	ORPHA:300298
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis...	OMIM:618849
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Rickets, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular v...	OMIM:611590
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de...	OMIM:617052
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, ...	OMIM:612126
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Lead Poisoning	Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m...	ORPHA:330015
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Difficulty walking, Neonatal insulin-dependent di...	ORPHA:1667
Deafness-Hypogonadism Syndrome	Abnormal spermatogenesis, Hypergonadotropic hypogonadism	ORPHA:90646
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat...	OMIM:607765
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Azoospermia	ORPHA:1445
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Attention deficit hyperactivity disorder, Hypoglycemia, Cryptorchidism, Aggre...	OMIM:619075
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hypoglyce...	OMIM:232700
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatocellula...	ORPHA:465508
Myotonic Dystrophy 2	Oligozoospermia, Hypogonadism	OMIM:602668
Isolated Polycystic Liver Disease	Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease	ORPHA:2924
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia...	OMIM:614300
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Bile duct proliferation, ...	OMIM:210500
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Distal Xq28 Microduplication Syndrome	Tip-toe gait, Depression, Patent foramen ovale, Impulsivity, Hypothyroidism, Stereotypical body r...	ORPHA:293939
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Ascites, Hepatomegaly	ORPHA:890
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Secundum atrial s...	OMIM:612562
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Ventricular septal defect, Thrombocytopenia, Dysphagia, Dilate...	ORPHA:261250
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Reticulocytosis, Gait ...	ORPHA:14
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete...	ORPHA:481
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Osteopetrosis, Autosomal Recessive 5	Irritability, Cranial hyperostosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Osteopet...	OMIM:259720
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Irritability, Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinem...	OMIM:619685
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hy...	OMIM:619046
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Progres...	OMIM:252920
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Cholestas...	ORPHA:79303
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoplasia of penis, Restrictive cardiomyopathy, Cognitive impairment, ...	ORPHA:2022
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Co...	OMIM:212140
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia	ORPHA:280679
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Generalized Glucocorticoid Resistance Syndrome	Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A...	ORPHA:786
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Depression, Pituitary hypothyroidism, Abnormal circu...	ORPHA:90674
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hijazi-Reis Syndrome	Hyperbilirubinemia, Gait disturbance, Motor stereotypy	OMIM:301094
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Hyperbilirubinemia, Elevated circulating long ...	OMIM:614886
Hsd10 Mitochondrial Disease	Agitation, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Restles...	OMIM:300438
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Trimethylaminuria	Depression, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Polycystic liver disease	OMIM:174050
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He...	OMIM:251880
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia, Elevated circulating cr...	OMIM:600649
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cognitive impairment, Thrombocytopenia,...	ORPHA:858
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Liver Failure, Infantile, Transient	Irritability, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic st...	OMIM:613070
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of ...	ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Testicular atrophy, Decreased testicular size, Small scrotum, Cryptorchidism, Microp...	OMIM:308700
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co...	OMIM:619386
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Squalene Synthase Deficiency	Irritability, Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism...	OMIM:618156
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti...	OMIM:232800
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Potocki-Lupski Syndrome	Atrial septal defect, Oral-pharyngeal dysphagia, Hyperactivity, Patent foramen ovale, Hypothyroid...	OMIM:610883
Galactokinase Deficiency	Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in...	ORPHA:79237
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Majeed Syndrome	Delayed puberty, Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:609628
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Jaundice, Increased serum bile acid concentration, Depressio...	ORPHA:69665
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia	OMIM:615010
49,Xyyyy Syndrome	External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si...	ORPHA:99330
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hyperuricemia, Hyperalan...	ORPHA:348
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:619232
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Glycogen Storage Disease Iii	Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creat...	OMIM:232400
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Depression, Acute hepatitis, Fulminant hepatitis, He...	ORPHA:2137
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Abnormal circulat...	ORPHA:95715
Gilbert Syndrome	Jaundice, Unconjugated hyperbilirubinemia	OMIM:143500
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Reduced bone mineral density, Hypocalcemia, Cholestasis, Cognitive impair...	ORPHA:172
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia	ORPHA:713
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopath...	OMIM:619051
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes ins...	OMIM:613404
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Pearson Marrow-Pancreas Syndrome	Anorexia, Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyper...	OMIM:557000
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating thyroglobuli...	ORPHA:95716
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating creatinine ...	OMIM:608836
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Tip-toe gait, Hepatomegaly, Elevated plasma citrulline, Hyper...	ORPHA:3008
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Dela...	ORPHA:95717
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Bile duct proliferation, Hepatosplenomegaly	ORPHA:79302
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, S...	ORPHA:79312
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Diabetes insipidus, Depression, Elevated circulating creatine kinase concentration,...	ORPHA:96180
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to...	OMIM:618528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Cholestasis, Abno...	ORPHA:264580
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokal...	OMIM:227810
Gapo Syndrome	Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism	ORPHA:2067
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Dysphagia, High nonceruloplasmin-bound serum copper, Hepa...	OMIM:277900
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility	OMIM:614935
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:160
Senior-Boichis Syndrome	Polydipsia, Cirrhosis, Agitation, Anemia, Cholestasis, Ascites, Portal hypertension, Increased to...	ORPHA:84081
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Card...	OMIM:614702
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon...	OMIM:619991
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Intrahepatic biliary atresia, Patent f...	OMIM:208085
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia	OMIM:616299
Hypermanganesemia With Dystonia 1	Cirrhosis, Hepatomegaly, Steppage gait, Increased total iron binding capacity, Unconjugated hyper...	OMIM:613280
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hypog...	OMIM:617872
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Loss of ambulation, Dysphagia, Restlessness, Cardiom...	ORPHA:391428
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Increased erythrocyte protoporphyr...	ORPHA:100924
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased plasm...	ORPHA:42
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Oste...	ORPHA:77259
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se...	ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Graft Versus Host Disease	Irritability, Jaundice, Hemophagocytosis, Lymphadenopathy, Acute hepatitis, Hyperbilirubinemia, C...	ORPHA:39812
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Difficulty walking, Ventricular hypertrophy, Waddling gait, Cardiomyopat...	OMIM:300280
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes...	ORPHA:99429
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Progressive neurologic de...	OMIM:231000
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath...	OMIM:256550
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hypog...	OMIM:615160
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T...	OMIM:222300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycem...	ORPHA:79240
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi...	OMIM:608885
Relapsing Fever	Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ...	ORPHA:91547
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly, Hypoalbuminemia,...	OMIM:608776
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Depression, Cardiomyopathy, Compulsive behaviors, Elevat...	OMIM:300842
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl...	OMIM:616943
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Irrita...	OMIM:301068
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul...	OMIM:201475
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligozoospermia, Clitoral hypoplasia	OMIM:614813
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Confusion, Leukopenia, Splenomegaly, Thrombocytopen...	ORPHA:108
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Myopathy With Extrapyramidal Signs	Hepatomegaly, Difficulty walking, Hypervalinemia, Hyperactivity, Ventricular septal defect, Leuko...	OMIM:615673
Aromatase Deficiency	Osteopenia, Male infertility, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hype...	ORPHA:91
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia	OMIM:619064
Lathosterolosis	Bilobate gallbladder, Ambiguous genitalia, male, Anisopoikilocytosis, Intrahepatic cholestasis, H...	OMIM:607330
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Ataxia...	OMIM:266510
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
X-Linked Sideroblastic Anemia	Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k...	OMIM:255120
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Increased circulating very long-chain ...	OMIM:614866
Reni Syndrome	Hypertriglyceridemia, Hypothyroidism, Ataxia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Hypogly...	OMIM:617575
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Hyperbilirubinemia, Prolonged neona...	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating...	OMIM:617049
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:90791
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le...	ORPHA:507
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c...	OMIM:613027
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ...	ORPHA:464321
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Steatorrhea, Hepatomegaly, Premature ovarian insufficiency, Cardiomyopathy, Hypochole...	OMIM:212065
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga...	ORPHA:2585
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia	OMIM:300845
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys...	ORPHA:1414
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Ataxia, Splenomegaly, ...	OMIM:201100
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Hypertyrosinemia, Microvesicular hepatic steatosis, Hyperbilirubinemia, Chol...	OMIM:617156
Glycogen Storage Disease Ixb	Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia	OMIM:261750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Bifid scrotum, Impulsivity, Cognitive impairment, Ataxia, Bicuspi...	OMIM:619475
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr...	OMIM:257200
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Irritab...	OMIM:300855
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreas...	OMIM:269700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Cogniti...	ORPHA:846
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Increased hepatic glycogen content, Depression, Truncal ataxia, Cardiomyopathy, Gait...	OMIM:619259
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopat...	ORPHA:2348
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proli...	ORPHA:30391
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
X-Linked Intellectual Disability, Nascimento Type	Neutropenia, Hypospadias, Patent foramen ovale, Ventricular septal defect, Compulsive behaviors, ...	ORPHA:163956
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Propionic Acidemia	Hyperammonemia, Hypoglycemia, Hepatomegaly, Cardiomyopathy	ORPHA:35
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Difficulty walking, Depression, Acute hepatitis, Hepat...	ORPHA:905
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:95619
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, ...	OMIM:618886
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence	ORPHA:85447
Whipple Disease	Polydipsia, Anorexia, Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dy...	ORPHA:3452
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Ventricular septal defect, Thrombocytopeni...	ORPHA:163979
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Irritability, Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirub...	ORPHA:90038
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia	OMIM:609727
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Hypoglycem...	OMIM:601005
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Choking episodes, Pulmonic stenosis, Leukopenia, Congeni...	OMIM:619488
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Difficulty w...	ORPHA:289157
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Long-Olsen-Distelmaier Syndrome	Hypoglycemia, Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy...	OMIM:620609
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Neonatal hypoglycemia, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Eleva...	OMIM:212138
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
8P11.2 Deletion Syndrome	Azoospermia, Hypoplasia of penis, Hypogonadism, Patent ductus arteriosus, Cryptorchidism, Hypogon...	ORPHA:251066
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Jaundice, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, ...	OMIM:617093
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Bloom Syndrome	Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia	ORPHA:125
Mirizzi Syndrome	Anorexia, Jaundice, Pancreatitis, Cholelithiasis, Hyperbilirubinemia, Cholesterol gallstones, Gal...	ORPHA:521219
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Optic Atrophy 11	Hyperactivity, Athetosis, Gait apraxia, Mildly elevated creatine kinase, Stereotypical body rocki...	OMIM:617302
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly, Osteo...	ORPHA:391
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bo...	OMIM:253250
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in femal...	OMIM:608594
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomyopathy, Elevated circulating crea...	ORPHA:228308
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic...	ORPHA:1772
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Cirrhosis, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia,...	OMIM:613658
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat...	ORPHA:447
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia, Splenomegaly	ORPHA:664
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Alg12-Cdg	Biventricular hypertrophy, Abnormal bone ossification, Muscular ventricular septal defect, Hyposp...	ORPHA:79324
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Ataxia, Conjugated hyperbilirubinemia...	ORPHA:168577
Congenital Erythropoietic Porphyria	Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Osteop...	ORPHA:79277
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos...	ORPHA:324410
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, ...	OMIM:228000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed puberty, Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL chol...	OMIM:616834
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Increased circulating T4 concentration, Jaundice, Hepatomegaly, Increas...	ORPHA:525731
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Confusion, Elevated circulating creatinine concentration	ORPHA:542323
Beck-Fahrner Syndrome	Depression, Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly	OMIM:618798
Familial Glucocorticoid Deficiency	Azoospermia, Cryptorchidism, Precocious puberty, Leydig cell neoplasia, Testicular adrenal rest t...	ORPHA:361
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Radial club hand, Adrenal hypoplasia, Hypergonadotropic hypogo...	OMIM:617053
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper...	OMIM:612714
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic...	OMIM:614887
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Hyperbilirubinemia, Patent foramen ovale, Cholestasis...	OMIM:613610
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Dysphagia, Splenomega...	OMIM:252930
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Periportal fibrosis	OMIM:619484
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Neurooculorenal Syndrome	Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Decreased circulating ACTH concentrati...	OMIM:620305
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Reynolds Syndrome	Steatorrhea, Jaundice, Hepatomegaly, Calcinosis, Hyperbilirubinemia, Cholestasis, Biliary cirrhos...	OMIM:613471
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Central hypothyroidism, A...	OMIM:616113
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Late-Onset Isolated Acth Deficiency	Anorexia, Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Generalized bon...	ORPHA:199299
Fumarase Deficiency	Perimembranous ventricular septal defect, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, ...	OMIM:606812
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Decreased circulating...	OMIM:618839
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Elevated circulating phytanic acid concentration, Ataxia	OMIM:266500
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Oste...	OMIM:219090
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Decrease...	OMIM:618835
Sandhoff Disease	Hepatomegaly, Progressive psychomotor deterioration, Impotence, Ataxia, Hepatosplenomegaly, Cardi...	OMIM:268800
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Elev...	OMIM:614921
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Akinesia, Ascites, Hepatosplenomegaly, Splenomegaly, Progressive neurologic...	OMIM:608013
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Ascites, Hypertrophic cardiomyopathy, Decreased skull ossification, Card...	OMIM:616897
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Hyperactivity, Abnormal mitral valve morphology, Ataxia, Splenomega...	ORPHA:581
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal...	ORPHA:95699
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia, Dysphagia, Self-injurious behavior, Choreoathetosis, Testicu...	OMIM:300322
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Truncal ataxia, Confusion, Cardiomyopathy, Impotence, Ataxia, Dementia, Cardiomegaly	OMIM:105210
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Difficulty walking, Cardiomyopathy, Ele...	OMIM:610717
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye...	ORPHA:457077
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly	OMIM:252900
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac...	OMIM:251110
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypothyroidism,...	OMIM:617713
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome...	OMIM:612840
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr...	OMIM:614736
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology	ORPHA:228123
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Osteopenia, Hepatomegaly, Hyperinsulinemia, Elevated circulating creatine k...	OMIM:613327
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Legionnaires Disease	Anorexia, Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Peri...	ORPHA:549
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Elevated circulating creatine kinase concentration, Dysphagia, R...	ORPHA:268
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Autosomal Dominant Polycystic Kidney Disease	Reduced sperm motility	ORPHA:730
Glycogen Storage Disease Ii	Hepatomegaly, Difficulty walking, Increased circulating NT-proBNP concentration, Elevated circula...	OMIM:232300
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal hea...	ORPHA:77261
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Osteol...	ORPHA:280365
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia o...	ORPHA:3464
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Carney Complex	Testicular neoplasm, Ovarian dermoid cyst, Decreased fertility in males, Oligozoospermia, Ovarian...	ORPHA:1359
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Cantu Syndrome	Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Hypothyr...	ORPHA:79330
Diphallia	Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma...	ORPHA:227
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcifi...	ORPHA:75233
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Bifid scrotum, Splenomegaly, Small scrotum, Septate vag...	OMIM:270400
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Dysphagia, At...	ORPHA:355
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,...	ORPHA:562639
Steinert Myotonic Dystrophy	Impotence, Cognitive impairment, Aggressive behavior, Decreased response to growth hormone stimul...	ORPHA:273
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Vent...	ORPHA:1655
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Glycosuria,...	OMIM:229600
Chylomicron Retention Disease	Steatorrhea, Increased hepatocellular lipid droplets, Hypocholesterolemia, Hepatic steatosis, Aca...	ORPHA:71
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Pearson Syndrome	Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol...	ORPHA:699
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Difficulty walking, Increased total iron binding capacity, Truncal ataxia...	ORPHA:309854
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Delayed puberty, Chro...	ORPHA:79259
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatoc...	OMIM:232220
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inability to walk, Gait disturbance, Inappropriate laughter, Ataxia, Cardiomegaly, ...	OMIM:618143
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Renal Cysts And Diabetes Syndrome	Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Epididymal cyst, Hy...	OMIM:137920
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Cognitive impairment, Ataxi...	ORPHA:167
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Hypo...	OMIM:235255
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Cardiomyopathy, Elevated circ...	ORPHA:565612
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unconjugated hyperb...	OMIM:620186
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Hyperactivity, Short attention span, Acute lymphoblastic leukemia, ...	OMIM:223370
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concent...	OMIM:615688
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis, Lymphadenitis,...	OMIM:615895
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Delayed epiphyseal ossification, Hyperbilirubinemia, Patent f...	OMIM:210710
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Depression, Secondary amenorrhea, Gait ataxia, Hypergonadotropic...	OMIM:157640
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Hyperparathyroidism, Neonatal Severe	Polydipsia, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Pri...	OMIM:239200
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Increased circu...	OMIM:218700
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnorm...	OMIM:227650
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Early ossification of capital femoral epiphyses, Bile duct proliferation, Polycystic li...	OMIM:208500
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Glandular hypospadias, Abnormal c...	OMIM:620306
Tetrasomy 9P	Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Lissencephaly, Cryptorchidism, Micropenis	ORPHA:3310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Testicular atrophy	OMIM:601163
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic...	OMIM:610199
Niemann-Pick Disease, Type C1	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau...	OMIM:257220
Brucellosis	Anorexia, Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valv...	ORPHA:1304
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Tyrosinemia, Type I	Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Hypophosphatemic rickets, Hypertyrosinemia, Hep...	OMIM:276700
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hepatomegaly, Abnormal tricuspid valve morphology, Hyperactivity, Abnor...	ORPHA:580
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Abnormality of iron homeostasis, Hypermethioninem...	OMIM:222470
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Delayed epiphyseal ossification	OMIM:613320
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal heart valve morphology, Osteoporosis, Aortic valve st...	ORPHA:363705
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu...	OMIM:612852
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Hyperkalemia, Abnormal female exter...	ORPHA:90790
Primary Sclerosing Cholangitis	Cholestasis, Ascites, Splenomegaly, Type I diabetes mellitus, Jaundice, Depression, Thyroiditis, ...	ORPHA:171
Cystinosis, Nephropathic	Polydipsia, Rickets, Male infertility, Hepatomegaly, Hypophosphatemic rickets, Delayed puberty, H...	OMIM:219800
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Yellow Fever	Jaundice, Hyperbilirubinemia, Acute pancreatitis, Leukocytosis, Elevated circulating creatine kin...	ORPHA:99829
Q Fever	Anorexia, Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Pe...	ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Difficulty walking, Inability to walk, Elevated circulating creatine kinase concent...	ORPHA:365
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect,...	OMIM:300967
Aicardi-Goutières Syndrome	Irritability, Difficulty walking, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopeni...	ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:308552
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Dysphagia, Cholangitis, Memo...	ORPHA:3260
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Hypocholesterolemia, Atrial septal defect, Ventricular septal defect, Hypop...	OMIM:244450
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Atrial...	OMIM:208540
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Abnormal pancreas morphology, Adrenocortica...	ORPHA:116
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Adrenocortical carcinoma, Cardiomyopathy, H...	OMIM:130650
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditis, ...	OMIM:249100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal bone ossification, Abnormal thymus morphology, Osteopenia	ORPHA:2463
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly	ORPHA:349
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Mucolipidosis Ii Alpha/Beta	Tip-toe gait, Osteopenia, Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hyp...	OMIM:252500
Fucosidosis	Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Mental deterioration	OMIM:230000
Gray Platelet Syndrome	Myelofibrosis, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Splenomegaly	OMIM:139090
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Kikuchi-Fujimoto Disease	Anorexia, Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Ele...	ORPHA:50918
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Camurati-Engelmann Disease	Anorexia, Delayed puberty, Hepatomegaly, Anemia, Hyperostosis, Waddling gait, Hypertrophic cardio...	ORPHA:1328
Aicardi-Goutieres Syndrome 7	Irritability, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, H...	OMIM:615846
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ...	OMIM:245600
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co...	OMIM:300972
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Ataxia, Mitral ...	ORPHA:904
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Cognitive impairment, Spl...	ORPHA:731
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Behçet Disease	Anorexia, Irritability, Pancreatitis, Lymphadenopathy, Memory impairment, Confusion, Gait disturb...	ORPHA:117
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy	ORPHA:1517
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid accumulation, Os...	OMIM:222700
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Neonatal hypoglycemia, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Per...	OMIM:261740
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Ventricular septa...	ORPHA:353281
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentrati...	OMIM:263700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, ...	OMIM:620066
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Inability to walk, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatatio...	OMIM:620371
Multiple Myeloma	Osteopenia, Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circ...	ORPHA:29073
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Abnormal temper tantrums, Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Bro...	ORPHA:2072
African Trypanosomiasis	Abnormality of the endocrine system, Impotence, Abnormal growth hormone level, Pericarditis, Sple...	ORPHA:3385
Cystic Fibrosis	Osteopenia, Absent vas deferens, Cirrhosis, Steatorrhea, Male infertility, Depression, Osteoporos...	ORPHA:586
Cystic Fibrosis	Male infertility	OMIM:219700
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein c...	OMIM:619381
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Neonatal hyperbilirubinemia, Vesicovaginal fistula	OMIM:300896
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Hypocalcemia,...	ORPHA:667
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Digeorge Syndrome	Decreased circulating parathyroid hormone level, Anemia, Cholelithiasis, Hypocalcemia, Truncus ar...	OMIM:188400
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Hypospadias, Abnormality of the Leydig cells, Osteoporosis, Unsteady gait, Cry...	ORPHA:3063
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Patent foramen ov...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Patent foramen ov...	ORPHA:353277
Bohring-Opitz Syndrome	Annular pancreas, Inability to walk, Cholelithiasis, Cardiomegaly, Abnormal cardiac septum morpho...	ORPHA:97297
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ...	OMIM:181000
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hyperlipidemia, Cogn...	ORPHA:64
Generalized Arterial Calcification Of Infancy	Irritability, Hypophosphatemic rickets, Osteomalacia, Ventricular hypertrophy, Abnormal calcifica...	ORPHA:51608
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Absent sternal ossification, Ventricular septal defect, Cardio...	ORPHA:3472
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Noonan Syndrome 1	Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism	OMIM:163950
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Waddling gait, Mitral valve calcific...	OMIM:182250

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 Csnk2a2

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 Csnk2a2.

No publications found that use IMPC mice or data for Csnk2a2.

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MGI Allele	Allele Type	Produced
Csnk2a2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Csnk2a2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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: Csnk2a2 MGI:88547

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Csnk2a2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data