banner
Genes Phenotypes Help, News, Blog

Gene: Kit MGI:96677

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
KIT proto-oncogene receptor tyrosine kinase
Synonyms:
CD117,  c-KIT,  Tr-kit,  Steel Factor Receptor,  Gsfsco5,  SCO1,  SOW3,  Gsfsow3,  Gsfsco1,  SCO5,  Dominant white spotting,  belly-spot

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 Kit 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... OMIM:300700
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... ORPHA:998
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... OMIM:300751
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Deafness, Congenital, With Total Albinism
Albinism, Hearing impairment OMIM:220900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Polycystic ovaries, Ambiguous genitalia, Decreased testicular size ORPHA:393
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
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 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
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
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Pallor ORPHA:46532
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Abnormality of skin pigmentation OMIM:300719
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... OMIM:617294
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
46,Xy Sex Reversal 11
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
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
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Increased RB... OMIM:314050
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Immunodeficiency 7
Hypereosinophilia, Diarrhea, Autoimmune hemolytic anemia, Lymphadenopathy, Patchy alopecia, Hepat... OMIM:615387
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp... OMIM:273800
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Thin nail, Nail pits, Circumungual hyperkeratosis, Ridge... ORPHA:79153
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Purpura, Epistaxis, Thrombocytopenia, Gingiv... OMIM:231200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... OMIM:300946
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... ORPHA:44890
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia OMIM:273150
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Plethora, Increased hemoglobin, Splenomegaly OMIM:133100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Androgen Insensitivity Syndrome
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... OMIM:300068
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Gastric Cancer
Stomach cancer OMIM:613659
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Peutz-Jeghers Syndrome
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... ORPHA:2869
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Premature graying of body hair, Hyperpigmentation in sun-exposed areas, Multiple lentig... OMIM:270750
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibromas, Intestinal obstruction, Dysphagia OMIM:606764
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Macrocytic anemia, H... OMIM:615438
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Burkitt Lymphoma
Nausea and vomiting, Abdominal pain, Abnormality of the ovary, Neoplasm of the oral cavity, Intes... ORPHA:543
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Small nail, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytos... OMIM:615631
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired ADP-induced platelet aggregation, Impaired epinephrine... OMIM:155100
Tempi Syndrome
Facial erythema, Telangiectasia, Increased hematocrit, Polycythemia, Hemangioma, Ascites ORPHA:284227
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... ORPHA:3202
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Paraganglioma, Dysphagia, Gastrointestinal s... ORPHA:97286
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Polycythemia OMIM:600501
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Thrombocytope... OMIM:617443
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... OMIM:300835
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis OMIM:237800
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Alpha-Heavy Chain Disease
Lymphoma, Alopecia, Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestin... ORPHA:100025
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Classic Mycosis Fungoides
Lymphoma, Alopecia, Skin ulcer, Neoplasm of the skin, Abnormality of the nail, Lymphadenopathy, D... ORPHA:2584
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Mild postnatal growth retardation, Erythroid hyperpl... OMIM:224120
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618187
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:300511
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Abdominal pain, Sy... ORPHA:897
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Insulin-resistant diabetes mell... ORPHA:90301
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Gastric diverticulum, Colorectal polyposis, Bladder ... ORPHA:157798
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Short stature, Hyperbilirubinemia, Elevated hepati... ORPHA:98870
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... ORPHA:3000
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Miscarriage OMIM:136580
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Plethora, Hemangioma, Increased hemoglobin OMIM:263400
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Sensorineural hearing impairment, Megaloblastic anemia, Optic atrophy, Abnorm... OMIM:598500
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente... OMIM:193510
Acute Myelomonocytic Leukemia
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Cafe-au-lait spot, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpus... OMIM:615234
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor ORPHA:228312
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Pyknoachondrogenesis
Stillbirth OMIM:265880
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Micropenis, Macrocytic anemia, Cryptorchidism, Thick eyebrow, Hearing impairment OMIM:620071
Myh9-Related Disease
Sensorineural hearing impairment, Menorrhagia, Giant platelets, Congenital thrombocytopenia, Neut... ORPHA:182050
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic ha... OMIM:146110
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Mastocytosis, Cutaneous
Hypermelanotic macule, Cutaneous mastocytosis OMIM:154800
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment OMIM:300650
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure to thrive, ... OMIM:609628
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia OMIM:185050
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... OMIM:300367
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... OMIM:614480
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... ORPHA:79397
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... OMIM:613944
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Atransferrinemia
Hypochromic anemia OMIM:209300
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Lelis Syndrome
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Perioral hyperpigmentation, Abnorma... ORPHA:140936
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Neutropenia OMIM:610798
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Megaloblastic anemia, Optic... OMIM:222300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia OMIM:250940
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Proteinuria, Micros... OMIM:161900
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Cutaneous photosensitivity, Abnormal lymphocyte morphology ORPHA:33314
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention ORPHA:103909
Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Folate Malabsorption, Hereditary
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Hirschsprung Disease
Diarrhea, Nausea and vomiting, Functional abnormality of the gastrointestinal tract, Aganglionic ... ORPHA:388
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... ORPHA:754
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Beta-Thalassemia
Anemia, Skin ulcer, Pallor, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abno... ORPHA:848
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Abnorma... ORPHA:3440
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
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
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Paragangliomas 4
Glomus jugular tumor, Renal cell carcinoma, Gastrointestinal stroma tumor, Chemodectoma, Paragang... OMIM:115310
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Growth delay, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... OMIM:300048
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Methylmalonic acidemia, Normocytic anemia, Hyperhomocystinemia, Hypomethion... OMIM:236270
Jejunal Atresia
Jejunal atresia OMIM:243600
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Rosaï-Dorfman Disea