Gene: Fancc MGI:95480

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Fanconi anemia, complementation group C

Synonyms:

Facc

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fancc 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 Fancc (2 diseases)
Human diseases predicted to be associated with Fancc (736 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Fanconi Anemia, Complementation Group C		Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ...	OMIM:227645
Fanconi Anemia		Hypospadias, Abnormality of chromosome stability, Leukopenia, Azoospermia, Decreased fertility in...	ORPHA:84

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

Disease	Matching phenotypes	Source
Ovarian Dysgenesis 2	Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o...	OMIM:300510
Ring Chromosome Y Syndrome	Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni...	ORPHA:261529
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Perrault Syndrome 6	Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula...	OMIM:617565
Premature Ovarian Failure 5	Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria...	OMIM:611548
Premature Ovarian Failure 10	Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr...	OMIM:612885
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh...	OMIM:614837
Ovarian Dysgenesis 9	Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H...	OMIM:619665
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty	OMIM:618117
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy...	OMIM:614841
Premature Ovarian Failure 18	Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul...	OMIM:619203
Premature Ovarian Failure 6	Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema...	OMIM:612310
Bone Marrow Failure Syndrome 5	Testicular atrophy, Decreased circulating antibody level, Anemia, Pure red cell aplasia, Hypogona...	OMIM:618165
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog...	ORPHA:168563
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Spermatogenic Failure 51	Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla...	OMIM:619177
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Premature Ovarian Failure 7	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop...	OMIM:612964
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ...	OMIM:619585
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Premature Ovarian Failure 19	Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency	OMIM:619245
Spermatogenic Failure 25	Azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Ovarian Dysgenesis 5	Primary amenorrhea, Hypoplasia of the uterus	OMIM:617690
Hypogonadism, Male	Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias	OMIM:241100
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc...	ORPHA:432
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi...	OMIM:618841
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Isolated Follicle Stimulating Hormone Deficiency	Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Perrault Syndrome 4	Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin...	OMIM:615300
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Isochromosomy Yp	Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test...	ORPHA:98797
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia	OMIM:613987
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a...	OMIM:619528
Perrault Syndrome 3	Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:614129
Diethylstilbestrol Syndrome	Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u...	ORPHA:1916
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility	ORPHA:481
Spermatogenic Failure 8	Oligospermia, Azoospermia, Cryptozoospermia	OMIM:613957
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,...	OMIM:194072
46,Xx Gonadal Dysgenesis	Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Streak ovary, Decreased serum estradiol, ...	ORPHA:243
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
Isochromosomy Yq	Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia...	ORPHA:98798
Oocyte Maturation Defect 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:66628
Satoyoshi Syndrome	Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog...	ORPHA:3130
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I	ORPHA:488191
46,Xy Partial Gonadal Dysgenesis	Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog...	ORPHA:251510
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:179494
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size	OMIM:229070
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian...	OMIM:233420
Frasier Syndrome	Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat...	ORPHA:347
Spermatogenic Failure 2	Oligospermia, Azoospermia	OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil...	OMIM:261550
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Estrogen Resistance	Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus	OMIM:615363
Oocyte Maturation Defect 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char...	ORPHA:2235
46,Xy Sex Reversal 3	Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E...	OMIM:612965
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Hypoplasia of the uterus, Azoospermia	OMIM:601076
Spermatogenic Failure 38	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Familial Male-Limited Precocious Puberty	Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty	ORPHA:3000
Leydig Cell Hypoplasia	Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis...	ORPHA:755
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ...	ORPHA:90796
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse...	ORPHA:2232
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
46,Xy Sex Reversal 11	Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas...	OMIM:273250
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
N Syndrome	Leukemia, Abnormality of chromosome stability, Cryptorchidism, Hypospadias	OMIM:310465
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Bardet-Biedl Syndrome	Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary	ORPHA:110
46,Xx Sex Reversal 2	True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope...	OMIM:278850
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Primary...	ORPHA:247768
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Seckel Syndrome 7	Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus	OMIM:614851
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Amed Syndrome, Digenic	Leukopenia, Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of t...	OMIM:619151
Estrogen Resistance Syndrome	Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ...	ORPHA:785
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus	OMIM:277000
Hemochromatosis, Type 1	Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Diabete...	OMIM:235200
Familial Hyperprolactinemia	Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Female hypogonadism	ORPHA:397685
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Ambiguous genitalia	OMIM:209970
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato...	ORPHA:399805
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Partial Androgen Insensitivity Syndrome	Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos...	ORPHA:90797
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Testicular Agenesis	Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level...	ORPHA:325124
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st...	OMIM:308700
Morbid Obesity And Spermatogenic Failure	Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia	OMIM:615703
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia	ORPHA:2578
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency	OMIM:300511
Wolfram Syndrome 1	Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell...	OMIM:222300
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor...	OMIM:308750
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni...	ORPHA:1772
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Woodhouse-Sakati Syndrome	Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se...	ORPHA:3464
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Complete Androgen Insensitivity Syndrome	Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,...	ORPHA:99429
Premature Ovarian Failure 2B	Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty	OMIM:300604
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf...	OMIM:110100
Spermatogenic Failure 10	Abnormal sperm morphology, Infertility	OMIM:614822
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:609441
Functioning Gonadotropic Adenoma	Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me...	ORPHA:91348
Bloom Syndrome	Chromosome breakage, Type II diabetes mellitus, Abnormality of chromosome stability, Azoospermia,...	OMIM:210900
Symptomatic Form Of Hemochromatosis Type 1	Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,...	ORPHA:465508
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian neoplasm, Anemia	OMIM:617883
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin...	OMIM:202010
Kennerknecht Syndrome	Agonadism, Hypoplasia of the uterus	OMIM:600908
Xq27.3Q28 Duplication Syndrome	Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency	ORPHA:261483
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c...	ORPHA:90793
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Premature ovarian insufficiency	ORPHA:75325
Adrenal Hypoplasia, Congenital	Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo...	OMIM:300200
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev...	ORPHA:399808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:157640
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu...	ORPHA:572333
Fragile X Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28	ORPHA:908
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa...	OMIM:241080
46,Xx Ovotesticular Disorder Of Sex Development	Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali...	ORPHA:2138
Hydatidiform Mole	Enlarged uterus, Spontaneous abortion, Anemia, Menometrorrhagia, Hyperthyroidism	ORPHA:99927
Gray Platelet Syndrome	Thrombocytopenia, Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly	ORPHA:721
Premature Ovarian Failure 1	Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level	OMIM:311360
Fanconi Anemia, Complementation Group A	Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ...	OMIM:227650
Bleeding Disorder, Platelet-Type, 24	Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I...	OMIM:619271
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp...	OMIM:615234
Lig4 Syndrome	Amenorrhea, Micropenis, Hypothyroidism, Pancytopenia, Thrombocytopenia, Cryptorchidism	OMIM:606593
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:614897
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Fanconi Anemia, Complementation Group E	Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ...	OMIM:600901
Premature Ovarian Failure 9	Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level	OMIM:615724
Ataxia-Telangiectasia	Type II diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, Abnormal test...	ORPHA:100
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e...	OMIM:158330
Leopard Syndrome 1	Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m...	OMIM:151100
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A...	ORPHA:3411
Aarskog-Scott Syndrome	Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi...	OMIM:305400
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia, Micropenis, Cryptorchidism	OMIM:615597
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility	ORPHA:1643
Immunodeficiency 54	Chromosome breakage, Adrenal insufficiency, Splenomegaly, Reduced natural killer cell count, Adre...	OMIM:609981
Fanconi Anemia, Complementation Group L	Chromosome breakage, Micropenis, Anemia, Abnormality of chromosome stability	OMIM:614083
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Premature ovarian insufficiency	ORPHA:2278
Hydatidiform Mole, Recurrent, 4	Recurrent spontaneous abortion, Female infertility	OMIM:618432
Oocyte Maturation Defect 10	Female infertility, Spontaneous abortion	OMIM:619176
47,Xyy Syndrome	Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre...	ORPHA:8
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff...	OMIM:228300
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia, Decreased testicular size	OMIM:601815
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia, Menorrhagia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia, Menorrhagia	OMIM:613554
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Female infertility, Premature ovarian insufficiency	OMIM:619518
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male...	ORPHA:206484
Genitourinary And/Or Brain Malformation Syndrome	Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro...	OMIM:618820
Popliteal Pterygium Syndrome	Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ...	OMIM:119500
46,Xy Complete Gonadal Dysgenesis	Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism	ORPHA:242
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ...	ORPHA:199310
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Fanconi Anemia, Complementation Group C	Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ...	OMIM:227645
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Amenorrhea, Premature ovarian insufficiency	OMIM:619425
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia	OMIM:124900
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit...	ORPHA:2795
Premature Ovarian Failure 8	Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona...	OMIM:615723
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Ovarian Fibrothecoma	Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met...	ORPHA:314478
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Abnormal vagina morphology, Anemia, Patent ductus arteriosus	ORPHA:2123
Wt Limb-Blood Syndrome	Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism	OMIM:194350
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Myotonic Dystrophy 2	Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel...	OMIM:602668
Aromatase Deficiency	Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe...	ORPHA:91
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Anemia, Premature ovarian insufficiency, Splenomegaly	ORPHA:100025
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Premature Ovarian Failure 16	Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati...	OMIM:618723
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism	OMIM:314300
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus	OMIM:309801
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Menorrhagia, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Thrombocyt...	OMIM:155100
Microphthalmia, Syndromic 9	Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u...	OMIM:601186
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcy...	ORPHA:848
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Pituitary Dermoid And Epidermoid Cysts	Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor...	ORPHA:91351
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Thrombocytopenia 7	Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla...	OMIM:619130
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f...	OMIM:618086
Rothmund-Thomson Syndrome, Type 1	Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency	OMIM:618625
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Macrothrombocytopenia, Anemia	OMIM:616176
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Menorrhagia, Decreased platelet glycoprotein IIb-IIIa, Neonata...	OMIM:173470
Bernard-Soulier Syndrome	Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation	OMIM:231200
Renal Cysts And Diabetes Syndrome	Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ...	OMIM:137920
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Classic Galactosemia	Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-lik...	ORPHA:79239
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o...	ORPHA:67044
Plin1-Related Familial Partial Lipodystrophy	Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ...	ORPHA:280356
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Micropenis, Decreased testicular size, Hypoplasia of the ovary	OMIM:619321
Hemochromatosis, Type 2A	Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly	OMIM:602390
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena...	ORPHA:96181
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis	OMIM:616738
Young Syndrome	Azoospermia	OMIM:279000
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Alg9-Cdg	Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary	ORPHA:79328
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating...	ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating...	ORPHA:168558
Spermatogenic Failure 4	Recurrent spontaneous abortion, Azoospermia	OMIM:270960
Preeclampsia	Thrombocytopenia, Polycystic ovaries, Type I diabetes mellitus	ORPHA:275555
Fanconi Anemia, Complementation Group D2	Neutropenia, Annular pancreas, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal br...	OMIM:227646
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla...	OMIM:615285
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia	OMIM:618300
Fechtner syndrome	Menorrhagia, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Thrombocyt...	OMIM:153640
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia	OMIM:616744
Fanconi Anemia, Complementation Group G	Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia	OMIM:614082
Fanconi Anemia, Complementation Group F	Leukopenia, Decreased response to growth hormone stimulation test, Anemia, Chromosomal breakage i...	OMIM:603467
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Premature Ovarian Failure 17	Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D...	OMIM:619146
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Menorrhagia, Impaired platelet aggregation	OMIM:617443
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro...	OMIM:605724
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Hy...	ORPHA:90794
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Premature ovarian insufficiency	ORPHA:126
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormality of the clitoris	ORPHA:101028
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Stt3B-Cdg	Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism	ORPHA:370924
Generalized Glucocorticoid Resistance Syndrome	Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Increase...	ORPHA:786
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari...	ORPHA:98826
Lig4 Syndrome	Leukocytosis, Type II diabetes mellitus, Abnormality of chromosome stability, Acute leukemia, Hyp...	ORPHA:99812
Amegakaryocytic Thrombocytopenia, Congenital	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia, Abnormality of chromosome stability	OMIM:600546
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Patent ductus arteriosus, Hypothyroidism, Thrombocytopenia, Cryptorchidism	OMIM:608104
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ...	ORPHA:543
Mirage Syndrome	Hypospadias, Adrenal insufficiency, Leukopenia, Anemia, Patent ductus arteriosus, Lymphopenia, Hy...	OMIM:617053
Cernunnos-Xlf Deficiency	B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T...	ORPHA:169079
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen...	OMIM:249270
Vaginal Atresia	Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres...	ORPHA:65681
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Non-Functioning Pituitary Adenoma	Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De...	ORPHA:91349
Quebec Platelet Disorder	Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Lead Poisoning	Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol...	ORPHA:330015
Bleeding Disorder, Platelet-Type, 16	Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired...	OMIM:187800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ...	OMIM:146255
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia	OMIM:615715
Galactosemia	Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary ameno...	ORPHA:352
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Th...	OMIM:300514
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability	OMIM:215510
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism	ORPHA:3063
Gray Platelet Syndrome	Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, S...	OMIM:139090
Fanconi Anemia, Complementation Group T	Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity	OMIM:616435
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Anemia, Hypogonadism, Abnormal testis morphology, Hepatosplenomegaly, Primary testi...	ORPHA:85450
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Cryptorchidism, Ambiguous genitalia	ORPHA:1237
Schinzel-Giedion Syndrome	Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Micropenis, Myeloid leukemia	ORPHA:798
Steinert Myotonic Dystrophy	Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath...	ORPHA:273
Platelet Signal Processing Defect	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele...	OMIM:173590
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula...	OMIM:609053
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Leukemia, Abnormality of the thymus, Abnormality of chromosome stability, Chromosome breakage	OMIM:208910
Von Willebrand Disease, Type 3	Thrombocytopenia, Menorrhagia, Impaired platelet aggregation	OMIM:277480
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Anemia, Thrombocytopenia, Cryptorchidism, Neutropenia	OMIM:614857
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism	OMIM:230400
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Ovarian fibroma	ORPHA:314473
Myh9-Related Disease	Menorrhagia, Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congen...	ORPHA:182050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Thrombocytopenia, Cryptorchidism, Anemia	OMIM:611209
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
46,Xx Sex Reversal 1	Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon...	OMIM:400045
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis	Partial vaginal septum, Uterus didelphys, Hematocolpos	OMIM:192050
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia	OMIM:133180
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Gapo Syndrome	Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea	ORPHA:2067
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal...	ORPHA:90791
Meningioma	Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr...	ORPHA:2495
Prolactinoma	Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ...	ORPHA:2965
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Abnormality of the endocrine system, Giant platelets	OMIM:608404
Sea-Blue Histiocyte Disease	Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Bone marrow hypocellularity, Urethral stricture, Pancytopenia, Thrombocytopenia, Apla...	OMIM:613989
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly	OMIM:610539
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega...	OMIM:613101
Prune Belly Syndrome	Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor...	ORPHA:2970
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m...	ORPHA:95699
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent ductus arteriosus,...	OMIM:612541
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:603552
Macrothrombocytopenia and progressive sensorineural deafness	Thrombocytopenia, Macrothrombocytopenia, Giant platelets	OMIM:600208
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease...	OMIM:308240
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism	OMIM:616638
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Adrenal insufficiency, Anisopoikilocytosis, Azoospermia, Anemia, Abnormality of the hypothalamus-...	ORPHA:300298
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Thrombocytopenia, Sideroblastic anemia, Patent ductus arteriosus	OMIM:617021
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cryptorchidism, Aplastic...	OMIM:613990
Transaldolase Deficiency	Anemia, Patent ductus arteriosus, Splenomegaly, Clitoral hypertrophy, Hepatosplenomegaly, Pancyto...	OMIM:606003
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Noonan Syndrome 12	Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia	OMIM:618624
Hermansky-Pudlak Syndrome 5	Thrombocytopenia, Menorrhagia	OMIM:614074
Wolfram Syndrome, Mitochondrial Form	Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, T...	OMIM:598500
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste...	ORPHA:90795
Mccune-Albright Syndrome	Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c...	ORPHA:562
Primary Ciliary Dyskinesia	Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia	ORPHA:244
Mayer-Rokitansky-Küster-Hauser Syndrome	Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Carney Complex	Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge...	ORPHA:1359
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia	OMIM:616576
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome	Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl...	ORPHA:94095
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Sebastian syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Aplastic anemia	OMIM:610832
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Limb-Mammary Syndrome	Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr...	ORPHA:69085
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Hypomelia With Mullerian Duct Anomalies	Longitudinal vaginal septum, Uterus didelphys	OMIM:146160
Isovaleric Acidemia	Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia	OMIM:243500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Wilson Disease	Thrombocytopenia, Abnormality of the menstrual cycle, Anemia, Splenomegaly	ORPHA:905
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Ciliary Dyskinesia, Primary, 14	Polysplenia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Leukopenia, Anemia, Metrorrhagia, Pancytopenia, Thrombocytopenia	ORPHA:520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre...	ORPHA:2237
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus	ORPHA:3320
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Nijmegen Breakage Syndrome	B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym...	OMIM:251260
Bloom Syndrome	Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper...	ORPHA:125
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Porokeratosis 1, Multiple Types	Abnormality of chromosome stability	OMIM:175800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia	ORPHA:83601
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Aicardi-Goutieres Syndrome 4	Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Peters Plus Syndrome	Hypospadias, Congenital hypothyroidism, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchi...	ORPHA:709
Cardiac-Urogenital Syndrome	Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous genitalia, Cryptorc...	OMIM:618280
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus	OMIM:614813
Peters-Plus Syndrome	Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h...	OMIM:261540
Congenital Rubella Syndrome	Anemia, Patent ductus arteriosus, Splenomegaly, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Congenital Factor Vii Deficiency	Menorrhagia, Ovarian cyst	ORPHA:327
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa...	OMIM:616050
Leishmaniasis	Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ...	ORPHA:507
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Asplenia, Cho...	OMIM:240300
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid...	OMIM:209900
Babesiosis	Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly	ORPHA:108
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:54057
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Increased circulating antibody level, Splenomegaly	OMIM:615846
Donnai-Barrow Syndrome	Abnormality of the uterus, Bicornuate uterus	ORPHA:2143
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina	OMIM:271520
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Maternal Uniparental Disomy Of Chromosome 2	Hypospadias, Chordee, Spontaneous abortion, Bilateral cryptorchidism, Premature ovarian insuffici...	ORPHA:96179
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia, Increased circulating antibody level	OMIM:618048
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Omenn Syndrome	B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro...	OMIM:603554
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Hand-Foot-Genital Syndrome	Hypospadias, Spontaneous abortion, Abnormality of the uterus, Bicornuate uterus, Abnormality of t...	ORPHA:2438
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia	OMIM:254900
Lymphoproliferative Syndrome 1	Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno...	OMIM:613011
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus	ORPHA:49827
Fanconi Anemia	Hypospadias, Abnormality of chromosome stability, Leukopenia, Azoospermia, Decreased fertility in...	ORPHA:84
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ...	ORPHA:2470
Isolated Agammaglobulinemia	Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils	ORPHA:229717
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level, Spontaneous abortion	ORPHA:448237
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu...	ORPHA:824
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Spermatogenic Failure 15	Non-obstructive azoospermia	OMIM:616950
Pontocerebellar Hypoplasia Type 7	Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio...	ORPHA:284339
Specific Granule Deficiency 2	Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules	OMIM:617475
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:231000
Mogs-Cdg	Inappropriate antidiuretic hormone secretion, Decreased circulating IgA level, Decreased circulat...	ORPHA:79330
Chromosome 17Q12 Deletion Syndrome	Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi...	OMIM:614527
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon...	OMIM:601399
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus...	ORPHA:2298
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat...	OMIM:242900
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun...	OMIM:304790
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Metrorrhagia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomeg...	ORPHA:464329
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:231095
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Leukopenia, Micropenis, Thrombocytopenia, Cryptorchidism	OMIM:301056
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Lumbar Syndrome	Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital...	ORPHA:83628
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity	ORPHA:210136
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep...	ORPHA:98850
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Griscelli Syndrome	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Splenomegaly, Thro...	ORPHA:381
Noonan Syndrome 4	Thrombocytopenia, Cryptorchidism	OMIM:610733
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease...	ORPHA:331206
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ...	ORPHA:101096
Tularemia	Leukocytosis, Increased circulating antibody level, Anemia, Thrombocytopenia	ORPHA:3392
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De...	OMIM:614700
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia	ORPHA:27
Pelger-Huet Anomaly	Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit...	OMIM:169400
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Stevens-Johnson Syndrome	Anemia, Dyspareunia, Abnormality of the urethra, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia	OMIM:611490
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Patent ductus arteriosus, Thrombocytopenia, Cryptorc...	OMIM:616737
7Q11.23 Microduplication Syndrome	Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Cryptorc...	ORPHA:96121
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Thrombocytopenia, Spontaneous abortion, Microangiopathic hemoly...	ORPHA:464343
Refractory Anemia With Excess Blasts	Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem...	ORPHA:86839
Avian Influenza	Thrombocytopenia, Spontaneous abortion, Lymphopenia, Leukopenia	ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Patent ductus ar...	OMIM:614576
16Q24.3 Microdeletion Syndrome	Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume	ORPHA:261250
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopen...	OMIM:274000
Pediatric-Onset Graves Disease	Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil antibodies, Pub...	ORPHA:525731
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume, Patent ductus arteriosus	OMIM:300048
Tsh-Secreting Pituitary Adenoma	Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary...	ORPHA:91347
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Ulnar-Mammary Syndrome	Hypoplastic nipples, Abnormality of the uterus, Breast aplasia, Cryptorchidism, Hypoplasia of pen...	ORPHA:3138
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Bernard-Soulier Syndrome	Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg...	ORPHA:274
Felty Syndrome	Neutropenia, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Splenomegaly, T...	ORPHA:47612
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Abnormality of...	ORPHA:906
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:619644
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia	ORPHA:398124
Ivic Syndrome	Rectovaginal fistula, Leukocytosis, Thrombocytopenia	ORPHA:2307
Immunodeficiency With Hyper-Igm, Type 1	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:308230
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