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Gene: Ncoa2 MGI:1276533

Gene Summary

Name:

nuclear receptor coactivator 2

Synonyms:

glucocorticoid receptor-interacting protein 1, bHLHe75, SRC-2, D1Ertd433e, TIF-2, Grip1, TIF2/GRIP-1, TIF2, KAT13C

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal placenta vasculature	Ncoa2^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal body wall morphology	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal kidney morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
decreased thigmotaxis	Ncoa2^em1(IMPC)Mbp	HET	Early adult	2.18×10^-06
enlarged spleen	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Ncoa2^em1(IMPC)Mbp	HET	E18.5	0.00
no spontaneous movement	Ncoa2^em1(IMPC)Mbp	HET	E18.5	0.00
hyperactivity	Ncoa2^em1(IMPC)Mbp	HET	Early adult	7.75×10^-08
no spontaneous movement	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal umbilical cord morphology	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased locomotor activity	Ncoa2^em1(IMPC)Mbp	HET	Early adult	1.26×10^-07
decreased anxiety-related response	Ncoa2^em1(IMPC)Mbp	HET	Early adult	6.01×10^-09
increased circulating insulin level	Ncoa2^em1(IMPC)Mbp	HET	Early adult	2.73×10^-05
preweaning lethality, incomplete penetrance	Ncoa2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Ncoa2^em1(IMPC)Mbp	HET	Early adult	1.16×10^-06
abnormal skin morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal behavior	Ncoa2^em1(IMPC)Mbp	HET	Early adult	2.34×10^-06

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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.

Gross Morphology Embryo E18.5

Images

12 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Ncoa2 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 Ncoa2 (0 diseases)
Human diseases predicted to be associated with Ncoa2 (485 diseases)

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

The table below shows human diseases predicted to be associated to Ncoa2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618341
Spermatogenic Failure 72	Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618153
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella	OMIM:617593
Spermatogenic Failure 65	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619712
Spermatogenic Failure 37	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:617965
Spermatogenic Failure 54	Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone...	OMIM:619379
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:617592
Spermatogenic Failure 49	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619094
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe...	ORPHA:529970
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly...	OMIM:301059
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 56	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619515
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:614822
Spermatogenic Failure 51	Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh...	OMIM:619177
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 42	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal...	OMIM:618745
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli...	OMIM:620084
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 39	Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit...	OMIM:618643
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia	OMIM:619102
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper...	OMIM:619585
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho...	ORPHA:399808
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia	OMIM:620196
Spermatogenic Failure 41	Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia	OMIM:618670
Partial Chromosome Y Deletion	Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma...	ORPHA:1646
Spermatogenic Failure 5	Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility	OMIM:243060
Spermatogenic Failure 24	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce...	OMIM:617959
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619696
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure 16	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617187
Spermatogenic Failure 44	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:619044
Spermatogenic Failure 21	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617644
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc...	OMIM:617960
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Spermatogenic Failure 63	Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility	OMIM:619689
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Spermatogenic Failure 57	Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i...	OMIM:619528
Spermatogenic Failure 50	Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility	OMIM:619145
Isochromosomy Yq	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp...	ORPHA:98798
Spermatogenic Failure 38	Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo...	OMIM:618433
Spermatogenic Failure 77	Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll...	OMIM:620103
Spermatogenic Failure, X-Linked, 2	Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility	OMIM:309120
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ...	OMIM:614840
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia...	ORPHA:52901
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Smal...	ORPHA:1916
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia	ORPHA:2274
Spermatogenic Failure 48	Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility	OMIM:619108
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Hypoglycemia, Leucine-Induced	Hypoglycemia, Ataxia, Irritability, Hyperinsulinemic hypoglycemia	OMIM:240800
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Testicular atrophy	OMIM:613909
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc...	ORPHA:399805
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Hyperinsulinemic Hypoglycemia, Familial, 7	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo...	OMIM:610021
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia	OMIM:612997
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Ring Chromosome Y Syndrome	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m...	ORPHA:261529
Hyperinsulinism Due To Hnf1A Deficiency	Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res...	ORPHA:324575
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ...	ORPHA:488191
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligospermia	OMIM:619828
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,...	ORPHA:276580
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility...	ORPHA:320391
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Splenomegaly, Anemia	ORPHA:294
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hepatom...	ORPHA:276575
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperi...	ORPHA:276608
Testicular Regression Syndrome	Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig...	ORPHA:983
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad...	OMIM:146110
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty	ORPHA:3000
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ...	ORPHA:753
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperi...	ORPHA:35878
Insulinoma	Polyphagia, Pituitary prolactin cell adenoma, Anxiety, Fasting hyperinsulinemia, Recurrent hypogl...	ORPHA:97279
Intellectual Developmental Disorder, Autosomal Recessive 37	Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Aggressive behavior, Hyperactivity	ORPHA:356996
Hartnup Disorder	Emotional lability, Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity di...	OMIM:234500
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Hyperinsulinism Due To Insr Deficiency	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan...	ORPHA:263458
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu...	OMIM:229070
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Hyperglycemia, Aggressive behavior, Hyperinsulinemia	ORPHA:329249
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Hyperinsulinism Due To Ucp2 Deficiency	Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, Hepat...	ORPHA:276556
Glycine Encephalopathy 1	Hyperactivity, Restlessness, Irritability, Impulsivity, Lethargy, Aggressive behavior, Hyperglyci...	OMIM:605899
Obesity Due To Leptin Receptor Gene Deficiency	Emotional lability, Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypo...	ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec...	OMIM:308700
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ...	OMIM:147630
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resis...	ORPHA:79084
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circulating follicle...	OMIM:308750
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency, Anxiety, Attention deficit hyperactivity disorder, Bradykinesia	OMIM:618878
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity	OMIM:619031
Obesity Due To Prohormone Convertase I Deficiency	Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr...	ORPHA:71526
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin...	ORPHA:411593
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,...	OMIM:108420
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Coiled sperm flagella, Male infertility, Short sperm flagella	OMIM:620197
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp...	ORPHA:752
Obesity And Hypopigmentation	Polyphagia, Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi...	OMIM:618086
Androgen Insensitivity, Partial	Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ...	OMIM:312300
Premature Ovarian Failure 10	Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen...	OMIM:612885
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility	ORPHA:48
Leydig Cell Hypoplasia	Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ...	ORPHA:755
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria	OMIM:239500
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Gait ataxia, Hepatic steatosis,...	ORPHA:363400
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de...	OMIM:614837
Hyperinsulinemic Hypoglycemia, Familial, 8	Attention deficit hyperactivity disorder, Hypoglycemic seizures, Hyperinsulinemia, Elevated circu...	OMIM:620211
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Proteinuria, Neonatal hypoglycemia, Glycosuria, Agitation, Renal Fanconi sy...	ORPHA:263455
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat...	OMIM:273250
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Pandas	Enuresis, Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Claustrophobia...	ORPHA:66624
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni...	OMIM:228300
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Smith-Magenis syndrome	Self-mutilation, Hyperactivity	DECIPHER:8
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia...	OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice	OMIM:206400
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Hepatomegaly, Abnormal calcium-phosphate regulating hormone lev...	ORPHA:417
Coproporphyria, Hereditary	Jaundice, Increased urinary porphobilinogen, Anxiety, Hepatomegaly, Elevated urinary delta-aminol...	OMIM:121300
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased ...	ORPHA:66628
Obesity Due To Sim1 Deficiency	Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia	ORPHA:369873
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating hormone concentration...	ORPHA:280356
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Type II diabetes mellitus, Hyperinsulinemia	ORPHA:71529
46,Xx Ovotesticular Difference Of Sex Development	Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic...	ORPHA:2138
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Glut1 Deficiency Syndrome 2	Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis, Irritability, Splenomegaly	OMIM:612126
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Adrenal Hypoplasia, Congenital	Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea...	OMIM:300200
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly	OMIM:615010
Hyperlysinemia, Type I	Anemia, Hyperactivity, Hyperlysinuria	OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease...	OMIM:614897
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Mody	Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc...	ORPHA:552
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia	OMIM:618406
Hemoglobin D Disease	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi...	ORPHA:2585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia	ORPHA:46532
Phenylketonuria	Increased level of hippuric acid in urine, Self-mutilation, Hyperactivity, Anxiety, Attention def...	OMIM:261600
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ...	OMIM:616030
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Hyperinsul...	OMIM:262190
Perlman Syndrome	Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Hypoplasia of penis	ORPHA:2849
Hemoglobin H Disease	HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly	OMIM:613978
Juvenile Huntington Disease	Progressive cerebellar ataxia, Hyperactivity, Ataxia, Irritability, Bradykinesia, Gait ataxia, De...	ORPHA:248111
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion	OMIM:248510
Hemochromatosis, Type 1	Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Aggressive behavior, Hyperactivity, Agitation	OMIM:309548
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Azoospermia, Male infertility	OMIM:277180
Fraxe Intellectual Disability	Hyperactivity, Aggressive behavior, Impulsivity, Agitation	ORPHA:100973
Retinitis Pigmentosa	Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis	ORPHA:791
Galactokinase Deficiency	Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased lev...	ORPHA:79237
Bdv Syndrome	Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Micrope...	OMIM:619326
Landau-Kleffner Syndrome	Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord...	ORPHA:98818
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:615842
Lennox-Gastaut Syndrome	Aggressive behavior, Personality disorder, Hyperactivity, Falls	ORPHA:2382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre...	ORPHA:3077
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati...	ORPHA:251510
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity	OMIM:609425
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa...	OMIM:614470
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Anxiety, Self-injurio...	OMIM:271980
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer...	ORPHA:90797
Lead Poisoning	Abnormal sperm morphology, Delayed puberty, Small for gestational age, Decreased male libido, Dec...	ORPHA:330015
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Hepatic...	OMIM:604367
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia	OMIM:616033
Graves Disease, Susceptibility To, 1	Polyphagia, Goiter, Graves disease, Hyperactivity, Abnormal abdomen morphology, Irritability, Inc...	OMIM:275000
Acquired Idiopathic Sideroblastic Anemia	Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ...	ORPHA:75564
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel...	OMIM:133180
Morm Syndrome	Hyperactivity, Aggressive behavior, Micropenis	ORPHA:75858
Gaucher Disease, Type Iii	Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly	OMIM:231000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly...	OMIM:603552
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab...	ORPHA:2298
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre...	OMIM:603902
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity	OMIM:617113
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat...	ORPHA:79644
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia	OMIM:607685
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior	ORPHA:382
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath...	ORPHA:100024
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hyperbilirubinemia, Shunt, Primary	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ...	OMIM:237800
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria	ORPHA:882
Intellectual Developmental Disorder, Autosomal Dominant 67	Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity, Hypothyroidism	OMIM:619927
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Inability to walk, Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior, ...	OMIM:620023
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Choreoathetosis, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Letha...	ORPHA:79312
Splenoportal Vascular Anomalies	Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegal...	OMIM:271500
Immunodeficiency 69	Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly	OMIM:618963
Bangstad Syndrome	Ataxia, Increased circulating cortisol level, Primary gonadal insufficiency, Abnormality of the p...	ORPHA:1227
Babesiosis	Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Depr...	ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche...	OMIM:615559
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis	OMIM:269600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism	ORPHA:3085
Donohue Syndrome	Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,...	OMIM:246200
Immunodeficiency 16	Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno...	OMIM:617514
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Lymphangiectasis, Proximal tubulopathy, Hy...	OMIM:602579
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
X-Linked Adrenoleukodystrophy	Increased circulating ACTH level, Gait disturbance, Hyperactivity, Neurogenic bladder, Disinhibit...	ORPHA:43
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi...	OMIM:616860
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior	OMIM:619467
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly	OMIM:618852
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Beta-Thalassemia	Anemia, Abnormal hemoglobin, Hepatomegaly, Irritability, Microcytic anemia, Hepatitis, Thrombocyt...	ORPHA:848
Pediatric-Onset Graves Disease	Emotional lability, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Polyphagia, G...	ORPHA:525731
Niemann-Pick Disease, Type A	Inability to walk, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Microcytic ...	OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto...	OMIM:619375
Amyloidosis, Familial Visceral	Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly	OMIM:105200
Mast Cell Sarcoma	Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr...	ORPHA:465508
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Atelis Syndrome 2	Anemia, Anxiety, Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating...	OMIM:620185
Immunodeficiency 76	Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity	ORPHA:101039
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:601859
Multiple Endocrine Neoplasia Type 4	Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin...	ORPHA:276152
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Cardiomegaly, Aggressive behavio...	OMIM:252920
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul...	ORPHA:99886
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia	OMIM:612716
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity	OMIM:615516
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Anxiety, Reduction of neutrophil motility	OMIM:266265
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog...	ORPHA:293964
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Reticulocytosis, Splenomegaly	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ib	Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E...	OMIM:615631
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Aggressive behavior, Hyperactivity, Broad-based gait, Precocious puberty	ORPHA:457260
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly, Lethargy, Hypogonadotropic hypogonadism	OMIM:602390
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hepa...	ORPHA:528
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait	ORPHA:411515
Alpha-Thalassemia	Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel...	ORPHA:846
Wilson Disease	Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, A...	ORPHA:905
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Estrogen Resistance Syndrome	Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se...	ORPHA:785
Alstrom Syndrome	Tubulointerstitial nephritis, Chronic active hepatitis, Multinodular goiter, Renal insufficiency,...	OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Neonatal hypoglycemia, Fasting hyperinsulinemia, Myoglobinuria, Hypoglycemic seizures, Dicarboxyl...	ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splen...	OMIM:612526
Mpi-Cdg	Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hypothyroidism	ORPHA:79319
Hemochromatosis, Type 2B	Hypogonadism, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:613313
X-Linked Sideroblastic Anemia	Glucose intolerance, Splenomegaly, Anemia	ORPHA:75563
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s...	OMIM:615363
X-Linked Acrogigantism	Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ...	ORPHA:300373
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity	ORPHA:500180
Nephronophthisis 19	Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg...	OMIM:616217
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo...	OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly	OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a...	OMIM:618534
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Emotional lability, Ataxia, Hypogonadism, Hepatomegaly, Irritability, Lethargy, Splenomegaly, Dec...	OMIM:201100
Aarskog-Scott Syndrome	Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle...	OMIM:305400
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge...	OMIM:209950
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne...	OMIM:226990
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome...	OMIM:150550
Cln5 Disease	Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Aggressive ...	ORPHA:228360
Deafness-Lymphedema-Leukemia Syndrome	Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto...	ORPHA:3226
Lipodystrophy, Congenital Generalized, Type 1	Polyphagia, Diabetes mellitus, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nep...	OMIM:608594
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy...	ORPHA:766
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hyperinsulinemia, Dysphagia, Hepatic steatosis, Insulin resistance, Splenomegaly	OMIM:613327
Beta-Thalassemia Intermedia	Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Hypothyr...	ORPHA:231222
Intellectual Developmental Disorder, X-Linked 107	Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity	OMIM:301013
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Aminoaciduria	ORPHA:664
Lipodystrophy, Congenital Generalized, Type 2	Polyphagia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nephrolithiasis, Decre...	OMIM:269700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an...	ORPHA:251380
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of...	OMIM:619802
46,Xx Sex Reversal 2	Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v...	OMIM:278850
Harderoporphyria	Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ...	OMIM:618892
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal...	OMIM:619644
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Nephrocalci...	ORPHA:769
Immunodeficiency 42	Hypoplasia of the thymus, Hepatomegaly, Splenomegaly	OMIM:616622
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly	OMIM:224100
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp...	OMIM:620141
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ...	ORPHA:98848
Acquired Generalized Lipodystrophy	Proteinuria, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Hepatic steatosis, In...	ORPHA:79086
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content	OMIM:261750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Ataxia, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bacterici...	OMIM:613470
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn...	ORPHA:521
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut...	OMIM:615387
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism	OMIM:222300
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly, Irritability	OMIM:228000
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis	OMIM:610293
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocytopenia, Lymphaden...	OMIM:308240
Cholestasis-Lymphedema Syndrome	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,...	ORPHA:1414
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Prader-Willi Syndrome	Polyphagia, Delayed puberty, Micropenis, Attention deficit hyperactivity disorder, Decreased resp...	OMIM:176270
Griscelli Syndrome	Jaundice, Leukopenia, Ataxia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomega...	ORPHA:381
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly...	OMIM:612840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo...	OMIM:157640
Dopamine Beta-Hydroxylase Deficiency	Anemia, Hyperinsulinemia, Elevated urinary dopamine, Insulin resistance, Nocturia, Hypoglycemia	ORPHA:230
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Citrullinemia Type Ii	Enuresis, Hepatocellular carcinoma, Abnormal eating behavior, Hyperactivity, Restlessness, Pancre...	ORPHA:247585
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Anxiety, Attention deficit hyperactivity disorder, Hyperthyroid...	ORPHA:449291
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, G...	OMIM:618935
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Renal potassium wasting, Self-biting, P...	OMIM:618314
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ...	OMIM:613673
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati...	OMIM:616689
Spherocytosis, Type 5	Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Griscelli Syndrome Type 2	Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Bicornuate u...	OMIM:137920
Omenn Syndrome	Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Nephrotic syndrome, Eosinophi...	ORPHA:39041
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration,...	ORPHA:453533
Dominant Beta-Thalassemia	Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Hypot...	ORPHA:231226
Autoimmune Hepatitis	Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi...	ORPHA:2137
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-res...	OMIM:608612
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope...	ORPHA:231154
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Hepatomegaly, Splenomegaly	OMIM:617068
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cholesteryl Ester Storage Disease	Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati...	OMIM:278000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity, Decreased ...	ORPHA:85327
Beta-Thalassemia Major	Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroi...	ORPHA:231214
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Elevated hepa...	OMIM:615234
Familial Renal Glucosuria	Enuresis, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance...	ORPHA:69076
Steinert Myotonic Dystrophy	Inability to walk, Diabetes mellitus, Hyperinsulinemia, Cholelithiasis, Male hypogonadism, Decrea...	ORPHA:273
Hepatoportal Sclerosis	Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ...	ORPHA:64743
Primary Myelofibrosis	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype...	ORPHA:824
Immunodeficiency 14B, Autosomal Recessive	Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis	OMIM:619281
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Lymphopenia, Irritability	ORPHA:391307
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a...	OMIM:616278
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Leukopenia, Alcoholism, Diabetes mellitus, Increased circulating procalcitonin conc...	ORPHA:36238
Wolman Disease	Bone-marrow foam cells, Anemia, Adrenal calcification, Hepatomegaly, Adrenal insufficiency, Splen...	ORPHA:75233
Sea-Blue Histiocytosis	Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:158029
Adult Idiopathic Neutropenia	Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Cntnap2-Related Developmental And Epileptic Encephalopathy	Self-mutilation, Hyperactivity, Ataxia, Hepatomegaly, Skin-picking, Low frustration tolerance, Ag...	ORPHA:163681
Mandibuloacral Dysplasia	Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia	ORPHA:2457
Argininemia	Oroticaciduria, Diaminoaciduria, Hyperactivity, Cholestasis, Hepatomegaly, Irritability, Portal f...	OMIM:207800
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:56425
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Hypoglycemi...	OMIM:613027
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo...	OMIM:602450
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Tenorio Syndrome	Enuresis, Emotional lability, Gait disturbance, Anxiety, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia	OMIM:616589
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi...	OMIM:193300
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi...	OMIM:619849
Niemann-Pick Disease, Type C1	Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis...	OMIM:257220
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,...	ORPHA:100026
Sclerosing Cholangitis, Neonatal	Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct...	OMIM:617394
Intellectual Developmental Disorder, Autosomal Dominant 45	Anxiety, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypoglycemia	OMIM:617600
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritab...	OMIM:603553
Leprechaunism	Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi...	ORPHA:508
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritability, Thrombocytope...	OMIM:267700
Sickle Cell Disease	Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ...	OMIM:603903
Chediak-Higashi Syndrome	Giant neutrophil granules, Jaundice, Gait disturbance, Leukopenia, Hemophagocytosis, Anemia, Atax...	OMIM:214500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc...	OMIM:300908
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm...	OMIM:613011
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ...	OMIM:235700
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,...	ORPHA:54251
Mcleod Syndrome	Personality disorder, Anxiety, Hepatomegaly, Acanthocytosis, Depression, Splenomegaly	OMIM:300842
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,...	ORPHA:760
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl...	OMIM:266200
Adult-Onset Still Disease	Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Hepatitis, ...	ORPHA:829
Renal-Hepatic-Pancreatic Dysplasia 1	Polycystic kidney dysplasia, Biliary cirrhosis, Stage 5 chronic kidney disease, Enlarged kidney, ...	OMIM:208540
Overhydrated Hereditary Stomatocytosis	Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular...	ORPHA:3203
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II diabetes mellitus, Hep...	OMIM:151660
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Splenomegaly	OMIM:252900
Omenn Syndrome	Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy...	OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ...	OMIM:263200
Hyperparathyroidism, Neonatal Severe	Anemia, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalciuria, Polydipsia,...	OMIM:239200
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular fil...	OMIM:232220
Neurodegeneration With Brain Iron Accumulation 2B	Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Bradykinesia, Gait ataxia, Dysm...	OMIM:610217
Cholestasis, Progressive Familial Intrahepatic, 3	Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C...	OMIM:602347
Dehydrated Hereditary Stomatocytosis	Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me...	ORPHA:3202
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Anemia, Congenital Dyserythropoietic, Type Ia	Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p...	OMIM:224120
Liver Disease, Severe Congenital	Peritonitis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated hepatic iron concentration, In...	OMIM:619991
Mandibuloacral Dysplasia With Type A Lipodystrophy	Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Insulin-resistant diab...	OMIM:248370
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia...	ORPHA:228123
Woodhouse-Sakati Syndrome	Delayed puberty, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:3464
Spherocytosis, Type 2	Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly	OMIM:616649
Spherocytosis, Type 1	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly	OMIM:182900
Spherocytosis, Type 4	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612653
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn...	ORPHA:99413
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn...	ORPHA:881
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn...	ORPHA:99226
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa...	OMIM:608203
Pitt-Hopkins-Like Syndrome 1	Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Ataxia	OMIM:610042
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia	OMIM:617441
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Diabetes mellitus, H...	OMIM:610199
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia	OMIM:620047
Hereditary Spherocytosis	Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co...	ORPHA:822
Caroli Disease	Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho...	ORPHA:53035
Cryohydrocytosis	Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Relapsing Fever	Jaundice, Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Hematuria, Neu...	ORPHA:91547
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Neoplasm of the liver, Ataxia, Autoimmune thrombocytopenia, Bipolar affective di...	ORPHA:77293
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Ataxia, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochromic mic...	OMIM:616084
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ...	ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatosplenomegaly, Leukocytosis, Leukopenia, Ataxia, Anemia, Agitation, Hashimoto thyroiditis, B...	OMIM:615688
Niemann-Pick Disease, Type C2	Jaundice, Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue his...	OMIM:607625
Overhydrated Hereditary Stomatocytosis	Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased...	OMIM:185000
Solitary Fibrous Tumor	Abnormality of the peritoneum, Urinary retention, Neoplasm of the liver, Recurrent hypoglycemia, ...	ORPHA:2126
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome...	ORPHA:86843
Tuberous Sclerosis Complex	Polycystic kidney dysplasia, Depression, Hepatic cysts, Chronic kidney disease, Renal angiomyolip...	ORPHA:805
Pearson Syndrome	Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroidism, Lacticaciduria, Proteinuria,...	ORPHA:699
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Abnormal natural killer cell count, Thrombocytope...	ORPHA:158048
Von Hippel-Lindau Disease	Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P...	ORPHA:892
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato...	ORPHA:2442
Primary Sclerosing Cholangitis	Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa...	ORPHA:171
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Lymphadenopathy, Elevated ...	OMIM:260920
Hereditary Elliptocytosis	Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho...	ORPHA:288
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Aminoaciduria, Splenomegaly, Orotic acid cryst...	ORPHA:30
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis, Alcoholism	ORPHA:1930
Atypical Werner Syndrome	Neoplasm of the thyroid gland, Delayed puberty, Glycosuria, Hypogonadism, Diabetes mellitus, Abno...	ORPHA:79474
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort...	OMIM:600955
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Niemann-Pick Disease Type C	Hepatosplenomegaly, Jaundice, Gait disturbance, Apathy, Ataxia, Bone-marrow foam cells, Abnormali...	ORPHA:646
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Reduced renal cort...	ORPHA:731
Hardikar Syndrome	Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Intrahepatic bile duct dilat...	OMIM:301068
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