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Gene: Aspm MGI:1334448

Gene Summary

Name:

abnormal spindle microtubule assembly

Synonyms:

D330028K02Rik, MCPH5, Calmbp1, Aspm, Sha1

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
thrombocytopenia	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.53×10^-06
increased circulating HDL cholesterol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.16×10^-06
increased total body fat amount	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.78×10^-05
increased circulating glycerol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.11×10^-05
increased circulating cholesterol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.03×10^-05
decreased lean body mass	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.10×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images

Aspm^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

View all 105 images

Aspm^{tm1a(KOMP)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 15 images

Aspm^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Aspm 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 Aspm (2 diseases)
Human diseases predicted to be associated with Aspm (897 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 5, Primary, Autosomal Recessive		Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar...	OMIM:608716
Autosomal Recessive Primary Microcephaly		Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt...	ORPHA:2512

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
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 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
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 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Microcephaly, Male hypogonadism, Azoospermia	OMIM:241000
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Reduced subcutaneous a...	OMIM:612526
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Intellectual Developmental Disorder, X-Linked 103	Micropenis, Lateral ventricle dilatation, Bilateral cryptorchidism	OMIM:300982
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc...	OMIM:615703
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Microcephaly, Elevated circulating ...	OMIM:614129
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Deleted in azoospermia	Azoospermia	OMIM:400003
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
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
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non...	ORPHA:432
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Cryptorchidism	OMIM:616816
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr...	OMIM:300200
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Partington Syndrome	Macroorchidism	ORPHA:94083
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral cortical atrophy, Cerebral atrophy, Decreased testicular size, Infertility, Corpus callo...	ORPHA:320391
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Mccune-Albright Syndrome	Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu...	ORPHA:562
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo...	ORPHA:8
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c...	OMIM:616828
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypoplasia of the olfactory bulb, Hypogonadism, Decreased testicular s...	OMIM:614897
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Microcephaly, Hypoplasia of the ...	ORPHA:3130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona...	OMIM:614837
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr...	ORPHA:2457
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Lateral ventricle dilatation	OMIM:619420
Young Syndrome	Azoospermia	OMIM:279000
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut...	OMIM:615285
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy...	OMIM:278000
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula...	OMIM:151660
Temple Syndrome	Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Flexion contracture, Overwe...	OMIM:616222
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Leukoencephalopathy With Dystonia And Motor Neuropathy	Leukoencephalopathy, Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Galactokinase Deficiency	Failure to thrive, Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level o...	ORPHA:79237
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes...	OMIM:615812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Polyembryoma	Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio...	ORPHA:180229
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Focal Cortical Dysplasia, Type Ii	Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C...	OMIM:607341
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Agenesis of corpus callosum, Microcephaly, Ambiguous genitalia, Primary gonadal insu...	ORPHA:261519
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Congenital Generalized Lipodystrophy	Failure to thrive, Adipose tissue loss, Lipodystrophy, Hypercholesterolemia, Hypertriglyceridemia...	ORPHA:528
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinas...	OMIM:614727
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Morgagni-Stewart-Morel Syndrome	Obesity, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce...	OMIM:612650
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Lateral ventricle dilatation	OMIM:618330
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia	ORPHA:209902
Ciliary Dyskinesia, Primary, 26	Infertility, Absent outer dynein arms, Reduced sperm motility	OMIM:615500
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Fragile X Syndrome	Macroorchidism	ORPHA:908
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar...	OMIM:608716
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity	ORPHA:96184
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Smith-Magenis Syndrome	Increased body weight, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem...	OMIM:617591
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Immunodeficiency 46	Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Leukoencephalopathy, Progressive, With Ovarian Failure	Premature ovarian insufficiency, Lateral ventricle dilatation	OMIM:615889
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest...	ORPHA:412
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lipodystrophy, Thrombocytopenia, B lym...	OMIM:618048
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l...	ORPHA:507
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome...	OMIM:614857
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Myotonic Dystrophy 2	Hypogonadism, Type II diabetes mellitus, Periventricular white matter hyperintensities, Elevated ...	OMIM:602668
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Agenesis of corpus callosum	OMIM:309520
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract...	OMIM:248370
Bone Marrow Failure Syndrome 5	Testicular atrophy, Microcephaly, Hypogonadism	OMIM:618165
Isolated Agammaglobulinemia	Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormal...	ORPHA:229717
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Secondary microcephaly, Polymicrogyri...	OMIM:618820
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia	ORPHA:27
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Ciliary Dyskinesia, Primary, 22	Infertility, Absent inner and outer dynein arms, Reduced sperm motility	OMIM:615444
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Failure to thrive, Breast hypoplasia, Microcephaly, Oligozoospermia, Macrocephaly, Diabetes melli...	OMIM:614813
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Stuve-Wiedemann Syndrome 2	Camptodactyly, Thrombocytopenia	OMIM:619751
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Increased bo...	ORPHA:264580
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increased circul...	OMIM:603553
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight	OMIM:231000
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia...	OMIM:617475
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum	OMIM:619244
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Elevated circulating creatine kinase concentration, Increased body weight, Hypercho...	ORPHA:79240
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur...	ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Osteopetrosis, Autosomal Recessive 8	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:615085
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Cerebral atrophy, Hypogonadism	OMIM:160900
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thro...	OMIM:169400
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglyc...	OMIM:251110
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Congenital Toxoplasmosis	Anemia, Failure to thrive in infancy, Thrombocytopenia	ORPHA:858
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Decreased HDL ...	ORPHA:470
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia	ORPHA:69663
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Hypercholestero...	OMIM:300972
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias	OMIM:618874
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Propionic Acidemia	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:606054
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Camptodactyly,...	OMIM:608104
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Cach Syndrome	Lateral ventricle dilatation, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insuffici...	ORPHA:135
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia, Knee flexion contracture	OMIM:620454
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Holoprosencephaly 5	Hydrocephalus, Central diabetes insipidus, Lateral ventricle dilatation	OMIM:609637
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Gapo Syndrome	Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea	ORPHA:2067
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con...	ORPHA:90674
Lysosomal Acid Lipase Deficiency	Failure to thrive, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hypona...	ORPHA:275761
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:210136
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Colpocephaly, Hydrocephalus	OMIM:616034
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Lateral ventricle dilatation	OMIM:619278
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto...	OMIM:619644
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Me...	OMIM:251000
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation	OMIM:617751
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Micropenis, Lateral ventricle dilatation, Cryptorchidism	OMIM:619847
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Camptodactyly, Thrombocy...	ORPHA:79325
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An...	OMIM:614520
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:618736
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy...	OMIM:277380
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism	ORPHA:261318
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cerebral calcification	OMIM:613987
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolyt...	OMIM:304790
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Flexion contracture, Art...	ORPHA:85212
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:251100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Preeclampsia	Elevated circulating creatinine concentration, Small for gestational age, Thrombocytopenia	ORPHA:275555
Griscelli Syndrome	Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neu...	OMIM:260400
Bloom Syndrome	Azoospermia, Decreased head circumference, Oligozoospermia, Abdominal obesity, Premature ovarian ...	ORPHA:125
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia	ORPHA:363618
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt...	ORPHA:2512
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:616602
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Hyperlipidemia, Decreas...	ORPHA:1830
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity...	OMIM:176270
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub...	OMIM:606721
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration...	OMIM:614576
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly, Cryptorchidism	ORPHA:261250
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:620156
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes...	ORPHA:186
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Agenesis...	ORPHA:79243
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Cryptorchidism	ORPHA:565624
Bardet-Biedl Syndrome 20	Obesity, Hypercholesterolemia	OMIM:619471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyc...	ORPHA:79259
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Felty Syndrome	Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutrope...	ORPHA:47612
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Overlap Myositis	Abnormal circulating lipid concentration, Abnormality of connective tissue, Leukopenia, Elevated ...	ORPHA:206572
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Glandular hypospadias, Abnormal preputium morphology, Choroid plexus cyst, Lateral ventricle dila...	ORPHA:293725
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Agenesis of corpus callosum, Ovotestis, Colpocephaly, Chordee, Hydrocephalu...	OMIM:309801
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Cog5-Cdg	Micropenis, Lateral ventricle dilatation, Cryptorchidism	ORPHA:263487
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblast...	OMIM:557000
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Conjugated hyperbilirubinemia, Thrombocytopenia, Arthrogryposis multiplex cong...	OMIM:208085
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal...	OMIM:606003
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Colpocephaly, Hypothyroidism, Agenesis of ...	OMIM:609053
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce...	OMIM:615219
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Smith-Kingsmore Syndrome	Large for gestational age, Thrombocytopenia, Umbilical hernia	OMIM:616638
Immunodeficiency 22	Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia,...	OMIM:615758
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Steatorrhea	OMIM:617941
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia, Anemia	ORPHA:905
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryp...	ORPHA:544488
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Microcephaly, Hypoplasia of the ovary, Abdominal obesity, Micropenis, ...	OMIM:619321
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio...	ORPHA:77259
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Arthrogryposis ...	OMIM:301056
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Anemia, Hyperkale...	OMIM:617053
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Small for gestational age, Normochromic anemia, Elevated circulating creatine k...	OMIM:618775
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ...	ORPHA:811
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Prolidase Deficiency	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:170100
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Hydrocephalus	OMIM:619833
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Umbilical hernia, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Slc35A2-Cdg	Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Lateral ventr...	ORPHA:356961
Braddock-Carey Syndrome 1	Camptodactyly, Enamel hypoplasia, Thrombocytopenia	OMIM:619980
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion ...	OMIM:614700
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Failure to thrive, Umbilical hernia, Hyperaldosteronism, Abnormal dent...	ORPHA:534
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Decreased eosinophil count	ORPHA:2686
Lig4 Syndrome	Failure to thrive, Pancytopenia, Thrombocytopenia, Acute lymphoblastic leukemia, Small for gestat...	OMIM:606593
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E...	OMIM:617718
Pseudo-Torch Syndrome 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Umbilical hernia	OMIM:251290
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Inguinal hernia, Er...	OMIM:612541
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Noonan Syndrome 14	Lateral ventricle dilatation, Cryptorchidism	OMIM:619745
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho...	ORPHA:79324
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contrac...	OMIM:617303
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane...	ORPHA:508542
Renal Cysts And Diabetes Syndrome	Cerebral cortical atrophy, Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreati...	OMIM:137920
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto...	ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Lateral ventricle dilatation, Cryptorchidism	OMIM:611209
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Supernumerary nipple, Cryptorchidism, Colpocephaly, Chordee, Hypospadias	ORPHA:477993
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of dental enamel, Hemo...	ORPHA:169090
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia, Sma...	OMIM:242900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Ventriculomegaly, Lateral ventricle dilatation	OMIM:618291
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Supernumerary nipple, Co...	ORPHA:397715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ...	OMIM:251880
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Anemia, Neutropenia, Thrombocytopenia, Elevate...	ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral ventric...	ORPHA:1855
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr...	OMIM:309000
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Penile hypospadias, Colpocephaly, Hypospadias, Cryptorchidism	OMIM:620083
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Colpocephaly, Agenesis o...	OMIM:617260
Hoyeraal-Hreidarsson Syndrome	Anemia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Leukopenia, Hy...	OMIM:222700
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Bardet-Biedl Syndrome	Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas...	ORPHA:110
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac...	OMIM:227645
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Micropenis, Hypospadias	OMIM:619479
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Camptodactyly of finger, Microcytic anemia, Elbow flexion contracture, Loss of...	OMIM:256040
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Weaver Syndrome	Ventriculomegaly, Hydrocele testis, Lateral ventricle dilatation, Cryptorchidism	OMIM:277590
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Alg9-Cdg	Cerebral atrophy, Hypoplastic nipples, Progressive microcephaly, Hypoplasia of the ovary, Bicornu...	ORPHA:79328
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Castleman Disease	Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Dec...	ORPHA:160
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Cryptorchidism	OMIM:617557
Pediatric-Onset Graves Disease	Thrombocytopenia, Failure to thrive, Splenomegaly, Neutropenia in presence of anti-neutropil anti...	ORPHA:525731
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Neuroblastoma	Anemia, Weight loss, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:635
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia...	OMIM:277400
Porphyria, Congenital Erythropoietic	Joint contracture of the hand, Atypical scarring of skin, Elevated circulating uroporphyrin conce...	OMIM:263700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Hypoplastic nipp...	OMIM:614866
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:620113
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Inguinal hernia, Thrombocytopen...	OMIM:620654
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Bainbridge-Ropers Syndrome	Precocious puberty, Lateral ventricle dilatation, Cryptorchidism, Supernumerary nipple	OMIM:615485
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Decre...	ORPHA:2298
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Hemolytic anemia	OMIM:308230
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,...	ORPHA:77293
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Flexion contracture, Thrombocytopenia, Neutropenia	OMIM:616271
Halperin-Birk Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618651
Tetrasomy 9P	Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Macrocephaly, Mi...	ORPHA:3310
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus steno...	ORPHA:464738
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Thrombocytopenia, Anemia, Arthrogryposis...	OMIM:608013
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Mosaic Trisomy 1	Micropenis, Penile hypospadias, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Shigellosis	Microangiopathic hemolytic anemia, Failure to thrive in infancy, Leukocytosis, Hyponatremia, Sple...	ORPHA:810
Takenouchi-Kosaki Syndrome	Camptodactyly, Inguinal hernia, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility	ORPHA:730
Farber Disease	Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Anemia, Flexion contracture	ORPHA:333
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Colpocephaly, Hydrocephalus	OMIM:620371
Aicardi-Goutieres Syndrome 9	Micropenis, Hypothyroidism, Lateral ventricle dilatation	OMIM:619487
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemia, Hypom...	ORPHA:79282
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Anemia, H...	ORPHA:699
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Obesity, Thrombocytopenia	OMIM:620072
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Failure to thrive in infancy, Camptodactyly, Thrombocytopenia	ORPHA:261323
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Bcard Syndrome	Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3rd finger, C...	OMIM:612394
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Supernumerary nipple	ORPHA:457279
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Hernia, Thrombocytopenia, Anemia, Flexion contra...	ORPHA:505248
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:603467
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ...	ORPHA:319213
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Prolonged G2 phase ...	OMIM:227646
Down Syndrome	Polycythemia, Umbilical hernia, Obesity, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrop...	ORPHA:870
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Lathosterolosis	Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Gaucher Disease, Type Ii	Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia	OMIM:230900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Ambiguous genitalia, Lateral ventricle dilatation, Pancreatic fibrosis	OMIM:263520
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	ORPHA:572798
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Colpocephaly, A...	OMIM:270400
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Central hypothyroidism, Annular pancreas, Failure to thrive in infancy...	ORPHA:798
Aicardi Syndrome	Precocious puberty, Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, P...	OMIM:304050
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, External gen...	ORPHA:177907
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hemolytic anemia, Hyperbilirubinemia, Splenomeg...	OMIM:277900
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
6Q Terminal Deletion Syndrome	Colpocephaly, Hypospadias, Phimosis	ORPHA:75857
Proteus Syndrome	Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o...	ORPHA:744
Genitopatellar Syndrome	Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Agenesis of corpus ca...	OMIM:606170
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology...	ORPHA:228123
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia, Hyperglycinemia, Hypernatremia	OMIM:620423
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia...	OMIM:620376
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Hip contracture, Thrombocytopenia	ORPHA:464321
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Weight loss, Thrombocyt...	OMIM:615846
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Truncal obesity, Thrombocytopenia, Limb joint contracture, Flexion contracture	OMIM:301072
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c...	ORPHA:2785
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Absence of subcutaneous fat, Thrombocyto...	OMIM:620005
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Q Fever	Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia	ORPHA:781
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia	ORPHA:36426
Brucellosis	Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Weight loss, Th...	ORPHA:1304
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:537
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we...	ORPHA:340
Congenital Syphilis	Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis	ORPHA:499009
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Aspartylglucosaminuria	Macroorchidism	OMIM:208400
Gaucher Disease	Splenic infarction, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Splen...	ORPHA:355
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Throm...	OMIM:122470
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly	OMIM:618460
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Thrombocytopenia, Camptodactyly, Flexion contracture, Increased mean platelet vo...	ORPHA:487796
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Anemia, Lymphocytosis, Weight loss, Neutropenia, Thrombocytopenia, Elev...	ORPHA:50918
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Hydrocep...	OMIM:210710
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Jacobsen Syndrome	Flexion contracture, Failure to thrive, Thrombocytopenia	OMIM:147791
Progressive Multifocal Leukoencephalopathy	Abnormal oligodendroglia morphology	ORPHA:217260
Ogden Syndrome	Polycythemia, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Iron deficiency anemia, Thro...	OMIM:300855
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hy...	OMIM:619991
Kabuki Syndrome 1	Anoperineal fistula, Lateral ventricle dilatation, Congenital hypothyroidism, Cryptorchidism, Pre...	OMIM:147920
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia	ORPHA:544482
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Dyskeratosis Congenita	Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia	ORPHA:1775
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619004
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Failure to thrive, Umbilical hernia, Abnormal dental enamel morpholo...	ORPHA:567
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Alström Syndrome	Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ...	ORPHA:64
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Hardikar Syndrome	Failure to thrive, Umbilical hernia, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splen...	OMIM:301068
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Fanconi Anemia	Umbilical hernia, Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sidero...	ORPHA:84
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hydrocele testis, Hypospadias, Cryptorchidism	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hydrocele testis, Hypospadias, Cryptorchidism	ORPHA:353277
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Microcytic anemia, Splenomegaly, Inguinal hernia, Thrombocytopenia, Anemia	OMIM:619525
Holoprosencephaly 13, X-Linked	Colpocephaly, Agenesis of corpus callosum	OMIM:301043
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Cachexia, Thrombocytop...	ORPHA:2072
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Multiple joint contractures, Chronic ly...	ORPHA:51
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Roberts Syndrome	Wrist flexion contracture, Progressive flexion contractures, Thrombocytopenia, Knee flexion contr...	ORPHA:3103
Jacobsen Syndrome	Inguinal hernia, Thrombocytopenia	ORPHA:2308
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Decreased serum leptin	OMIM:614098
Sarcoidosis	Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Weight loss, Scarring, Thrombocy...	ORPHA:797
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Lateral ventricle dilatation	OMIM:300896
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Inguinal hernia, ...	ORPHA:666
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:99827
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:305000
Digeorge Syndrome	Umbilical hernia, Obesity, Splenomegaly, Hypocalcemia, Inguinal hernia, Hypoplasia of the thymus,...	OMIM:188400
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Congenital hypothyroidism, Cryptorchidism, Agenesis of corpus callo...	OMIM:607872
Systemic Lupus Erythematosus	Leukopenia, Weight loss, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss, Thrombocytopenia	ORPHA:79078
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Lateral ventricle dilatation, Bifid scrotum, Septate vagina, Cryptorchidism, Agenes...	ORPHA:261537
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

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 Aspm

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 Aspm.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Aspm^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Aspm^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Aspm^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Aspm^{tm1a(KOMP)Wtsi}	PMC5827107
Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice.	Development (Cambridge, England) (October 2015)	Aspm^{tm1a(KOMP)Wtsi}	PMC4712878

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MGI Allele	Allele Type	Produced
Aspm^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aspm^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aspm MGI:1334448

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Legacy Phenotype Associated Images

Human diseases caused by Aspm mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data