Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kit ligand
Synonyms:
SF,  stem cell factor,  Steel factor,  SLF,  Mgf,  Sl,  Gb,  grizzle-belly,  Steel,  SCF,  Kitlg,  blz

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Kitl 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 associated to Kitl by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Se... ORPHA:895
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Prostate Cancer
Prostate cancer OMIM:176807
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Prostate Cancer, Hereditary, 1
Neoplasm, Prostate cancer OMIM:601518
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Book Syndrome
Premature graying of hair OMIM:112300
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
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
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Deafness, Congenital, With Total Albinism
Hypogonadism, Albinism OMIM:220900
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Gonadoblastoma
Gonadoblastoma OMIM:424500
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
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
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment, Rod-cone dystrophy OMIM:300719
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hearing impairment, Multiple cafe-au-lait spots, Hypopigmente... ORPHA:241
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Cafe-au-lait spot, Anemia, Splenomeg... OMIM:615234
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Nk-Cell Enteropathy
Gastric ulcer, Lymphoproliferative disorder, Increased T cell count, Hematochezia, Abdominal pain... ORPHA:263665
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Malnutrition, Gastrointestinal hemorrhage... ORPHA:2494
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Melanocytic nevus, Abnormal hemoglobin, Anemia ORPHA:3319
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Sparse eyelashes, Microtia, Macrocytic anemia OMIM:300946
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Male infertility, Precocious ... ORPHA:3000
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, White eyelashes, Bilateral sensorineural hearing i... OMIM:103500
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Bronchiectasis, Reduced natura... OMIM:618108
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Iris transillu... OMIM:619165
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Hearing impairment, Anemia of in... OMIM:617780
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive... ORPHA:2575
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia OMIM:612528
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Severe sensorineural hearing impairme... OMIM:601706
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia, B-cell lymphoma, Splenomegaly, ... ORPHA:52416
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613265
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
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
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema ORPHA:90157
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of... OMIM:615631
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Sensorineural hearing ... OMIM:598500
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
X-Linked Sideroblastic Anemia
Pallor, Hyperpigmentation of the skin, Anemia, Splenomegaly ORPHA:75563
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Hearing impairment, White forelock OMIM:172850
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Dry skin OMIM:106750
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abn... ORPHA:1433
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:610282
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Alopecia of scalp, Axillary and groin hyperpigmentation and ... ORPHA:69125
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment, Thick eyebrow, Generalized hirsutism ORPHA:2222
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly OMIM:613673
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, In... OMIM:173470
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Oliver-Mcfarlane Syndrome
Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Retinal degeneration,... OMIM:275400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Myelodysplasia, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Ecz... OMIM:616871
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Aggressive Systemic Mastocytosis
Pruritus, Neutropenia, Weight loss, Anorexia, Pancytopenia, Maculopapular exanthema, Decreased li... ORPHA:98850
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Duodenal ulcer OMIM:618372
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Anemia OMIM:208060
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Sparse axillary hair, Primary amenorrhea, Sparse pubic hair, Hypogon... OMIM:146110
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Posteriorly rotated ears, Granulocytopenia, Sensorineural hearing impairment, Mixed hearing impai... OMIM:606164
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Se... ORPHA:895
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Abnormal toenail ... ORPHA:89838
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Pyknoachondrogenesis
Stillbirth OMIM:265880
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Generalized hypopigmentation OMIM:257790
Immunodeficiency 40
Lymphopenia OMIM:616433
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Generalized Eruptive Histiocytosis
Pruritus, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Infantile Liver Failure Syndrome 1
Sensorineural hearing impairment, Anemia, Macrocytic anemia OMIM:615438
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Erythroderma, Leukemia, Malabsorption, Cutaneous mastocytosis ORPHA:79456
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 11
Macular atrophy, Perifoveal ring of hyperautofluorescence, Macular edema, Bone spicule pigmentati... OMIM:600138
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Eem Syndrome
Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Sparse body hair, Retinop... ORPHA:1897
Wolfram Syndrome
Gastric ulcer, Male hypogonadism, Gastrointestinal hemorrhage, Feeding difficulties in infancy, C... ORPHA:3463
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Weight loss, Chronic myelomonocytic leukemia, Diarrhea, Abnormal mast cell morphology, ... ORPHA:98849
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Primary amenorrhea, Decreased circul... OMIM:614841
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Adult onset sensorineural hearing impairment, Giant melanosomes in melanocytes, Depigmented fundu... OMIM:300650
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Neutropenia OMIM:610798
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Nail dystrophy OMIM:618806
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Atransferrinemia
Hypochromic anemia OMIM:209300
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, Failure to thrive, T-cell acute lymphoblastic leukemias, Bo... OMIM:605724
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, ... ORPHA:809
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Pallor, Splenomegaly ORPHA:228312
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Retinitis Pigmentosa 42
Pallor OMIM:612943
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Anemia, Congenital Dyserythropoietic, Type Iii
Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Multinodular goiter, Pilomatri... ORPHA:276399
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Villous atrophy, Chr... OMIM:304790
Retinitis Pigmentosa 9
Macular atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular edema OMIM:180104
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Sensorineural hearing impairment ORPHA:49827
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Hemangioma, Myelodysplasia, Abdominal pain, Lymphopenia, Leukemia, Periodontitis, Ne... ORPHA:486
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Acute leukemia ORPHA:281090
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Abnormal foveal morpholo... ORPHA:827
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Th... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura... OMIM:618144
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia OMIM:236270
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Hyperpigmentation of the skin, Generalized reticulate brown pigmentation, Spott... ORPHA:158681
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Short stature, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly OMIM:618541
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Idiopathic Localized Lipodystrophy
Scaling skin, Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema ORPHA:90158
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Congestive heart failure, Anemia, Splenomegaly, Pallor, Hydroc... ORPHA:163596
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Weight loss, Diarrhea, Anemia, Leuko... ORPHA:33355
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Reticulocytopenia, Posteri... OMIM:613309
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Decreased mean corpuscular volume, Hypothyroidism, Reticulocytopenia, Anisopoikilocy... ORPHA:300298
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Anemia, Sparse body hair... ORPHA:79402
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty, Female extern... ORPHA:251510
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypo... ORPHA:227990
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Wt Limb-Blood Syndrome