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Gene: Kitl MGI:96974

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:

SLF, blz, Sl, SF, Steel factor, Gb, SCF, Mgf, Kitlg, Steel, stem cell factor, grizzle-belly

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 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.

Human diseases associated with Kitl (4 diseases)
Human diseases predicted to be associated with Kitl (2389 diseases)

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

Disease	Matching phenotypes	Source
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	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	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Diamond-Blackfan Anemia 17	Anemia, Hyperpigmentation of the skin	OMIM:617409
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Book Syndrome	Premature graying of hair	OMIM:112300
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	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
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Prostate Cancer, Hereditary, 1	Prostate cancer	OMIM:601518
Prostate Cancer, Hereditary, X-Linked 1	Prostate cancer	OMIM:300147
Prostate Cancer	Prostate cancer	OMIM:176807
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Deafness, Congenital, With Total Albinism	Hypogonadism, Albinism	OMIM:220900
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
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
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Unilateral cryptorchidism, Persistence of hemoglobin F, Micr...	OMIM:300946
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Hearing impairment	OMIM:300719
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho...	ORPHA:263665
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr...	ORPHA:3000
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism	ORPHA:2786
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
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 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General...	OMIM:103500
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocyto...	OMIM:618108
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Diamond-Blackfan Anemia 5	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Low-set ears	OMIM:612528
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a...	ORPHA:436159
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology...	ORPHA:2575
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, Chorioretinal co...	OMIM:601706
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro...	OMIM:133180
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Drug-Induced Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
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
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Pallor, Hyperpigmentation of the skin	ORPHA:75563
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma...	OMIM:615631
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged ble...	OMIM:231200
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la...	OMIM:614700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thro...	OMIM:616100
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc...	OMIM:615234
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Dry skin	OMIM:106750
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Neutropenia, Thromb...	OMIM:598500
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight...	ORPHA:52416
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Hearing impairment	OMIM:172850
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Abnormal intestine morpholo...	OMIM:619079
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment	ORPHA:2222
Birk-Aharoni Syndrome	Cryptorchidism, Macrocytic anemia, Thick eyebrow, Hearing impairment	OMIM:620071
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia	OMIM:208060
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi...	ORPHA:37042
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Weight loss, Iron deficiency anemia, In...	OMIM:301074
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem...	ORPHA:326
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o...	ORPHA:75564
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Colorectal polyposis, Constipation	ORPHA:160148
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	ORPHA:895
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Myelodysplasia, Leukocytosis, Lymphade...	ORPHA:98849
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural...	ORPHA:2885
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Malabsorption, Hypersplenism,...	ORPHA:98850
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse ha...	OMIM:275400
Infantile Liver Failure Syndrome 1	Sensorineural hearing impairment, Macrocytic anemia, Anemia	OMIM:615438
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret...	OMIM:617879
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Spermatogenic Failure 17	Male infertility	OMIM:617214
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Neutropenia	OMIM:610798
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Sparse eyebrow, Sensorineu...	OMIM:606164
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,...	ORPHA:3261
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Reticular hyperpigmentation, Anemia, Leukopeni...	OMIM:127550
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Vaginal atresia, Hypospadias, External genital hypoplasia	OMIM:605231
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Depigmented fundu...	OMIM:300650
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Gastric ulcer, Constipation, Hypogonadism, Male hypog...	ORPHA:3463
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Atransferrinemia	Hypochromic anemia	OMIM:209300
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism	OMIM:614072
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Follic...	OMIM:614470
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ...	ORPHA:99867
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Sensorineural hearing impairment, Irregular hyperpigmentation, Leuk...	OMIM:194350
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Familial Hypofibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:101041
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Familial Dysfibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98881
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocephalus, Pallor,...	ORPHA:163596
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Myel...	ORPHA:486
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Int...	OMIM:619381
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Ileus, Ch...	OMIM:304790
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino...	ORPHA:1897
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm	OMIM:308100
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sensorineural hearing impairment, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Sple...	ORPHA:809
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
N Syndrome	Cryptorchidism, Leukemia, Neoplasm, Hypospadias	OMIM:310465
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Failur...	OMIM:605724
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Chronic ...	ORPHA:33355
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Idiopathic Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin	ORPHA:90158
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se...	OMIM:618144
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he...	ORPHA:494444
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
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
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl...	OMIM:273800
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh...	ORPHA:99147
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid...	ORPHA:227982
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sensorineural hearing impairment,...	OMIM:249270
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Retinal detachment, Poliosis, Abnormal eyelash mo...	ORPHA:3437
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi...	ORPHA:3002
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
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
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ...	OMIM:616176
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Macular degeneration, Abnormality ...	ORPHA:1573
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometro...	ORPHA:849
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Pruritus	OMIM:607685
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Wolfram Syndrome 2	Gastric ulcer, Oligomenorrhea, Primary amenorrhea	OMIM:604928
Obesity And Hypopigmentation	Red hair	OMIM:620195
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Androgen Insensitivity Syndrome	Absent facial hair, Sparse axillary hair, Sparse pubic hair, Primary amenorrhea, Blind vagina, La...	OMIM:300068
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onych...	ORPHA:2251
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az...	ORPHA:300298
Diamond-Blackfan Anemia 10	Macrocytic anemia, Posteriorly rotated ears, Reticulocytopenia, Microtia, Atresia of the external...	OMIM:613309
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Sensorineural hearing impairment, Macrocytic anemia	OMIM:619046
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re...	OMIM:616108
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency...	OMIM:240300
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenome...	ORPHA:2072
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
17Q11.2 Microduplication Syndrome	Macroorchidism, Sparse eyelashes, Sparse eyebrow	ORPHA:139474
Partington Syndrome	Macroorchidism	ORPHA:94083
Pancreatic Colipase Deficiency	Megaloblastic anemia	ORPHA:309108
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymphadenopathy, T ...	OMIM:608971
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, T lympho...	OMIM:619510
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Classic Mycosis Fungoides	Alopecia, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin, Irregular hyp...	ORPHA:2584
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow...	OMIM:619151
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Retinal degeneration	ORPHA:3363
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro...	ORPHA:243
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, Vomiting	OMIM:618892
Pyomyositis	Testicular teratoma	ORPHA:764
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Cupped e...	OMIM:617052
Heimler Syndrome 1	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Leukonychia, Beau's lines,...	OMIM:234580
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a...	ORPHA:180229
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Erythema migrans, Skin vesicle, Spotty...	ORPHA:158681
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Ileus, Ovar...	ORPHA:83469
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Short stature	ORPHA:2204
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Pigmentary retinopa...	OMIM:222300
Congenital Atransferrinemia	Anemia	ORPHA:1195
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I...	ORPHA:206484
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Weight loss, Aspiration pneumonia, Microglossia, Hamartoma	ORPHA:141152
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Hearing impairment	ORPHA:2169
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Omenn Syndrome	Failure to thrive, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leukocytosis, Chronic diarrhe...	ORPHA:39041
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia	OMIM:300752
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Leukoc...	ORPHA:2070
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides, Dry skin	OMIM:261600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Satoyoshi Syndrome	Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs...	ORPHA:3130
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Lymphadenopat...	ORPHA:3226
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye...	ORPHA:48104
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Gonadoblastoma, Abnormality of the uterus, Nephroblast...	OMIM:194072
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia, Primary amenorrhea	OMIM:191830
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Vexas Syndrome	Macrocytic anemia, Sensorineural hearing impairment, Chondritis of pinna, Thrombocytopenia	OMIM:301054
Sea-Blue Histiocytosis	Hyperpigmentation of the skin, Petechiae, Splenomegaly, Sea-blue histiocytosis, Hypopigmentation ...	ORPHA:158029
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hearing impairment	OMIM:619090
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea...	OMIM:617341
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Primary Erythromelalgia	Pruritus, Leukemia	ORPHA:90026
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Genital ulcers, Colitis, Ileal ulcer, Lymphopenia,...	OMIM:616744
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu...	OMIM:612562
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho...	ORPHA:99429
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr...	ORPHA:47
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Bloom Syndrome	Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, Stomach cancer,...	ORPHA:125
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Synophrys	OMIM:300143
Diprosopus	External ear malformation, Abnormality of retinal pigmentation	ORPHA:1681
Netherton Syndrome	Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Hypereosinophilia, Chronic...	OMIM:256500
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Microcytic anemia	OMIM:618852
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop...	ORPHA:816
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Nodular Lymphocyte Predominant Hodgkin Lymphoma	B-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenopathy	ORPHA:86893
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hirsutism, Generalized hypo...	ORPHA:1816
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity	ORPHA:79254
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Generalized...	OMIM:615846
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Syndromic Diarrhea	Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volume, Splenomega...	ORPHA:84064
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Malabsorption	ORPHA:1954
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Adenomatous colonic...	OMIM:276300
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo...	ORPHA:2796
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy...	OMIM:235700
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Protruding ear, Increased mean corp...	ORPHA:261250
Idiopathic Achalasia	Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia, Dysphagia	ORPHA:930
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,...	OMIM:606593
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Gastrointestinal infar...	ORPHA:1059
Rhabdoid Tumor	Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Anemia, Neoplasm of the live...	ORPHA:69077
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur...	ORPHA:443167
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Pruritus, Abnormality of the spleen, Diarrhea, Lymphadenopathy, Vomi...	ORPHA:79456
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Impotence, Neutropenia, Lymphopenia...	OMIM:604250
Cortisone Reductase Deficiency 1	Alopecia, Infertility, Hirsutism, Oligomenorrhea	OMIM:604931
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Autosomal Dominant Optic Atrophy, Classic Form	Sensorineural hearing impairment, Hypogonadism, Macrocytic anemia	ORPHA:98673
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi...	ORPHA:77297
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia	OMIM:121270
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi...	OMIM:187900
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Peutz-Jeghers Syndrome	Melanonychia, Abnormality of the gastrointestinal tract, Neoplasm of the colon, Gastrointestinal ...	ORPHA:2869
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomega...	ORPHA:169160
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia	ORPHA:100025
Verrucous Hemangioma	Inflammatory abnormality of the skin, Papilloma, Hemangioma	ORPHA:464318
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Oral-pharyngeal dysphagia, Weight ...	ORPHA:100083
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased p...	ORPHA:169154
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Aland Island Eye Disease	Albinism	OMIM:300600
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Fingernail dysplasia, Abnormal helix morphology	ORPHA:1259
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular...	ORPHA:1390
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ...	OMIM:264470
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Infantile Sialic Acid Storage Disease	Splenomegaly, Vacuolated lymphocytes, Fair hair, Hypopigmentation of the skin	OMIM:269920
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism, Leukopenia	OMIM:614171
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism, Premature ovarian insufficiency	ORPHA:91411
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Lymphoprolifer...	ORPHA:33276
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:480
Lig4 Syndrome	Pancytopenia, Hypoplasia of penis, Malabsorption, Cryptorchidism, Leukocytosis, Lymphoma, Acute l...	ORPHA:99812
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Anemia, Chronic constipation, Blood...	ORPHA:209964
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Splenomegaly, Diarrhea, Furrowed tongue, Hamartoma...	ORPHA:2930
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Hypopigment...	ORPHA:1807
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment, Melanocytic nevus	ORPHA:2801
Aplasia Cutis Congenita	Skin ulcer, Spinal dysraphism	ORPHA:1114
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Lymp...	OMIM:603554
Pfapa Syndrome	Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High anterior hairline, Sparse hair, Polycystic ovaries	ORPHA:284180
Abcd Syndrome	White eyelashes, Polycythemia, White eyebrow, Albinism	OMIM:600501
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morphology, Micropenis, Vagina...	ORPHA:1655
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Short stature	ORPHA:166277
Hydatidiform Mole	Anemia, Menometrorrhagia, Miscarriage, Enlarged uterus	ORPHA:99927
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Pruritus	ORPHA:280785
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti...	ORPHA:99818
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Peritonitis...	ORPHA:90038
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Neoplasm, Erythroderma	ORPHA:2897
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D...	OMIM:131100
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se...	OMIM:615300
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Ramon Syndrome	Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairm...	ORPHA:3019
Bardet-Biedl Syndrome 12	Hypogonadism, Hydrometrocolpos, Vaginal atresia	OMIM:615989
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Sézary Syndrome	Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the ski...	ORPHA:3162
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a...	OMIM:618165
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomeg...	OMIM:209950
Acatalasemia	Microcytic anemia, Old-aged sensorineural hearing impairment, Vitiligo	ORPHA:926
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Vomiting, Gastroesophageal reflux, Nausea, Male infertility, Primary test...	ORPHA:85450
Leber Congenital Amaurosis 1	Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Atte...	OMIM:204000
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Sensorineural hearing impairment, Retinal degeneration	OMIM:520000
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Low-set ears	OMIM:616606
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Microcytic anemia, Cryptorchidism, Aplasia/Hypoplasia of the e...	ORPHA:98791
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Premature graying of hair, Hematochezia, Protei...	OMIM:277175
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Pallor, Hyp...	OMIM:600462
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Abnormality of the hairline	OMIM:248450
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Iron deficiency anemia, Infertility, Thrombocytosis	OMIM:212750
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Skin vesicle, ...	ORPHA:218
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni...	OMIM:615512
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a...	ORPHA:1959
Central Precocious Puberty In Male	Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Abnormali...	ORPHA:649929
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo...	ORPHA:99828
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h...	ORPHA:247768
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Reynolds Syndrome	Skin rash, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivi...	ORPHA:779
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Microtia, Low-set ears, Neutropenia, Anemia	OMIM:277380
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Lichen Planus Pemphigoides	Skin vesicle, Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis	ORPHA:525
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abnormal erythrocyte enzyme level, Diarrhea, Constipation, Myel...	ORPHA:100924
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment	ORPHA:65
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Hermansky-Pudlak Syndrome 6	Abnormal platelet granules, Albinism, Ocular albinism, Ecchymosis, Hypopigmentation of the skin	OMIM:614075
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Erythroderma, Lymphadenopathy, Anemia, Colitis,...	ORPHA:540
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly	OMIM:613561
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Dry skin, Hypomelanotic macule, Nail dystrophy, Scaling skin, Fr...	OMIM:618373
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Weight loss, Arthritis, Inflam...	ORPHA:324964
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:3322
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Pulmonary embolism, Abno...	ORPHA:90308
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias, Microcytic anemia	OMIM:618972
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Hemochromatosis, Type 2B	Hyperpigmentation of the skin, Splenomegaly, Secondary amenorrhea, Hypogonadism, Anemia	OMIM:613313
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Mckusick-Kaufman Syndrome	Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ...	OMIM:236700
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Testicu...	OMIM:613987
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout...	OMIM:232800
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Menkes Disease	Alopecia, Brittle hair, Cutis laxa, Sparse hair, Hypopigmentation of the skin	OMIM:309400
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries, Prem...	ORPHA:100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, White hair, Meningocele, ...	ORPHA:894
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Acute leukemia	ORPHA:2770
Cofs Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy	ORPHA:1466
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Splenomegaly, Gastrointestinal hemorrhage, Malabsorption	ORPHA:79301
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Myelodysplasia, Steatorrhea, Per...	OMIM:260400
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab...	ORPHA:1359
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Posteriorly rotated ears, Cryptorchidism, Synophrys, Polysplenia, Low-set ears	OMIM:614294
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr...	ORPHA:276152
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Vitiligo	ORPHA:199299
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Lymphadenopat...	ORPHA:139402
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyos...	ORPHA:647
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Leukoc...	ORPHA:3260
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Srd5A3-Cdg	Abnormal hair morphology, Spotty hyperpigmentation, Hypertrichosis, Microcytic anemia	ORPHA:324737
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Low-set ears, Microcytic anemia	OMIM:618451
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil...	OMIM:214500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Lymphadenopathy, Hematochezi...	OMIM:615895
Immunodeficiency 102	Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Intestinal obstruction, Intesti...	ORPHA:873
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Dry sk...	ORPHA:69087
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol...	ORPHA:324636
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane...	ORPHA:2330
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Wei...	ORPHA:71493
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Pigmentary retinopathy, Hypop...	ORPHA:110
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, In...	OMIM:619795
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Eiken Syndrome	Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo...	ORPHA:79106
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,...	OMIM:135900
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalized hypopigm...	ORPHA:2720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpigmentati...	ORPHA:90790
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro...	OMIM:619693
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Bilateral sensorineural hearing impairment, Profound sensorineural hearin...	ORPHA:90647
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon...	ORPHA:298
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte...	OMIM:266600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c...	OMIM:618986
Classic Hodgkin Lymphoma	Skin rash, Pruritus, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Bone marrow ...	ORPHA:391
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabsorption, Spleno...	ORPHA:33226
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Generalized Pustular Psoriasis	Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosi...	ORPHA:247353
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu...	ORPHA:3097
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Esophageal atresia, Cryp...	OMIM:227646
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Splenomegaly, Secretory diarrhea, En...	OMIM:616050
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow	OMIM:225050
Hemophilia B	Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma	OMIM:306900
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Abnormality of the ovary, Hypogonadism, Vaginal atresia,...	OMIM:209900
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Autosomal Erythropoietic Protoporphyria	Microcytic anemia	ORPHA:79278
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo...	OMIM:600901
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Osteopenia, Short stature, Reduced bone mineral density	OMIM:619489
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Fibroma, Primary h...	ORPHA:143
Fragile X Syndrome	Macroorchidism	ORPHA:908
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Parti...	ORPHA:79430
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Silver-gray...	ORPHA:381
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h...	ORPHA:2221
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Cholelithiasis	OMIM:182900
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Intestinal Dysmotility Syndrome	Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu...	OMIM:620045
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr...	OMIM:603909
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ...	ORPHA:791
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Rothmund-Thomson Syndrome	Skin rash, Aplastic anemia, Myelodysplasia, Small for gestational age, Diarrhea, Squamous cell ca...	ORPHA:2909
Familial Colorectal Cancer Type X	Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Neoplasm of th...	ORPHA:440437
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypogonadism, Abnormal cortical gyration, Abnormality of hair texture, Megaloblastic anemia	ORPHA:79351
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea	ORPHA:2795
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Microcytic anemia, Hepatosplenomegaly, Low-set ears, Hypertrichosis	OMIM:619750
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Tufted Angioma	Petechiae, Thrombocytopenia, Hypertrichosis, Anemia, Purpura	ORPHA:1063
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Ataxia-Telangiectasia	Failure to thrive, Sinusitis, Female hypogonadism, Chronic diarrhea, Lymphoma, Bronchiectasis, Ho...	OMIM:208900
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Myelodysplasia, Cryp...	ORPHA:221008
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Hypertrichosis, Microcytic anemia	OMIM:612379
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231214
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly	ORPHA:56425
Acute Radiation Syndrome	Hyperpigmentation of the skin, Skin ulcer, Granulocytopenia, Scaling skin, Lymphopenia, Hypopigme...	ORPHA:454831
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
Optic Atrophy 1	Pallor	OMIM:165500
Wolman Disease	Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Anemia	ORPHA:75233
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto...	OMIM:610163
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss	ORPHA:2023
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C...	ORPHA:99745
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis...	OMIM:210900
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Anemia, Premature graying of hair, Nail dystrophy, Type I diabetes mellitus, Lymp...	OMIM:620365
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin...	OMIM:308300
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Anal canal squamous carcinoma,...	ORPHA:217390
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega...	ORPHA:1414
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Polycythemia Vera	Gastrointestinal hemorrhage, Myelodysplasia, Pruritus, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Blue Rubber Bleb Nevus	Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Skin ulcer	ORPHA:352723
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Alopecia of scalp, Macroorchidism, Cafe-au-lait spot	OMIM:618874
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Lymphoma, Synovitis, We...	ORPHA:47612
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Increased s...	ORPHA:79277
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Splenomegaly, Anemia of inadequate production	OMIM:612714
Whim Syndrome 1	Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen...	OMIM:193670
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment	ORPHA:141
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h...	ORPHA:52427
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Squamous cell...	OMIM:601675
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Weight loss, Inflammation of the large intestine, Consti...	ORPHA:26790
Hermansky-Pudlak Syndrome 11	Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr...	OMIM:619172
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Incr...	OMIM:616005
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Myocardial infarction, ...	ORPHA:3452
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia, Concave nail	ORPHA:54028
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid...	OMIM:616740
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora	OMIM:207410
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ...	ORPHA:319218
Testicular Germ Cell Tumor	Choriocarcinoma, Azoospermia, Teratoma, Embryonal neoplasm	OMIM:273300
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Small for gestational age, Myelodysplasia, Cryptorchidism, Diarrhea, Lymphoma, C...	ORPHA:221016
Bazex Syndrome	Yellow nails, Nail dystrophy, Scaling skin, Lip hyperpigmentation, Anemia	ORPHA:166113
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Deafness, Congenital, With Vitiligo And Achalasia	Hearing impairment, Vitiligo	OMIM:221350
Atelis Syndrome 1	Dry skin, Anemia, Leukopenia, Microtia, Irregular hyperpigmentation, Cafe-au-lait spot, Thrombocy...	OMIM:620184
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo...	OMIM:227645
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st...	ORPHA:2097
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly,...	ORPHA:64743
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp...	ORPHA:44
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Vaginal atresia	ORPHA:3301
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie...	ORPHA:33110
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis...	OMIM:611926
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma...	ORPHA:142
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:145981
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Bifid scrotum, Freckling, Hypoplastic toenails	ORPHA:1547
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Az...	OMIM:602390
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Pigmentary retinopathy, Low-set ears, Neutropenia, Macrotia, Thrombocytopenia	OMIM:277400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, R...	OMIM:613101
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Diamond-Blackfan Anemia 11	Atresia of the external auditory canal, Anemia of inadequate production, Neutropenia	OMIM:614900
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613266
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Small for gestational age, Nephroblastoma, Hypospadias, Cryptorchidism, Embryonal ...	OMIM:257300
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Fibroma, Primary h...	ORPHA:99880
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye...	OMIM:614162
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79405
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Malignant Peritoneal Mesothelioma	Neoplasm, Peritonitis, Ileus, Weight loss	ORPHA:168811
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los...	OMIM:175500
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Specific Granule Deficiency 2	Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Thrombo...	OMIM:617475
Gaisböck Syndrome	Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes...	ORPHA:90041
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia	OMIM:618805
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Silver-Russell Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Craniopharyngioma, Testicular...	OMIM:180860
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Constipation, Menorrhagia	ORPHA:168816
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	ORPHA:2069
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Congenital Factor Xiii Deficiency	Myeloid leukemia, Menorrhagia, Inflammation of the large intestine	ORPHA:331
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced bone mineral ...	OMIM:620210
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V...	ORPHA:1018
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida, Melanocytic nevus	ORPHA:1327
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment	OMIM:619473
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Vici Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Hypopigment...	ORPHA:1493
Camptobrachydactyly	Hypoplastic toenails, Abnormal fingernail morphology, Septate vagina	ORPHA:1319
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re...	OMIM:193220
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in ...	OMIM:615952
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif...	ORPHA:144
Al Amyloidosis	Abnormality of the gastrointestinal tract, Abnormal EKG, Postural hypotension with compensatory t...	ORPHA:85443
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh...	OMIM:615607
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:858
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Short stature, Recurrent fractures	ORPHA:1486
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Leukocytosis, Gastrointestinal dysmotility, ...	ORPHA:67
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Normochromic anemia, Neutropenia, Thrombocytopenia	OMIM:614857
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Neoplasm of the skin, Weight loss	ORPHA:317
Peeling Skin Syndrome 1	Pruritus, Eosinophilia, Erythroderma	OMIM:270300
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Decreased testicular size, Pancytopenia, Oropharyngeal squamous cell carc...	OMIM:305000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma, Punctate keratitis, Erythroderma	OMIM:602540
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Reticular hyperpigmentation, Decreased circulating antibody level, Premature grayin...	OMIM:619767
Down Syndrome	Aganglionic megacolon, Protruding tongue, Decreased fertility, Narrow palate, Obesity, Acute mega...	ORPHA:870
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Familial Melanoma	Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast	ORPHA:618
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Transient ischemi...	ORPHA:774
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow...	OMIM:608747
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy, Weight loss	ORPHA:545
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Infertility	OMIM:240950
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Hypogonadotropic hypogonadism, Highly arched eyebrow, ...	ORPHA:293967
Ollier Disease	Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H...	ORPHA:296
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79406
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Hypospadias, Eczema, Abnormality of neutrophils, Malabsorption...	ORPHA:235
Pemphigus Foliaceus	Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Crusting erythematous dermati...	ORPHA:79481
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Weight loss, Neoplasm of ...	ORPHA:1332
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g...	ORPHA:91139
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Pruritus, Precocious puberty, Spinal cord...	ORPHA:370348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Diarrhea, Hepat...	OMIM:618278
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Brea...	ORPHA:1333
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy, Protruding ear	ORPHA:2518
Netherton Syndrome	Malabsorption, Skin rash, Eczema, Erythroderma	ORPHA:634
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:610198
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Neoplasm, Nephroblastoma	ORPHA:654
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Orthostatic Hypotension 2	Anemia	OMIM:618182
Wilson Disease	Abnormality of the menstrual cycle, Pruritus, Splenomegaly, Hepatitis, Increased body weight, Wei...	ORPHA:905
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss	OMIM:191390
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Ethylene Glycol Poisoning	Gastritis, Vomiting, Nausea	ORPHA:31826
Congenital Ichthyosiform Erythroderma	Keratitis, Failure to thrive, Erythroderma, Pruritus	ORPHA:79394
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Thick hair, Congestive heart failure, ...	ORPHA:363705
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen...	ORPHA:100026
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia	OMIM:616278
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,...	ORPHA:79319
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Esophageal varix, Aplastic/hypoplasti...	ORPHA:974
Leigh Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Hypertrichosis	OMIM:256000
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy, Anonychia,...	ORPHA:79411
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Porphyria Variegata	Hyperpigmentation of the skin, Skin vesicle, Hypopigmentation of the skin, Anemia, Hypertrichosis	ORPHA:79473
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Liver Disease, Severe Congenital	Chronic gastritis, Hypospadias, Eczema, Pneumonia, Biliary hyperplasia, Thrombocytopenia, Splenom...	OMIM:619991
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Petechiae, Hyperpigmented/hypopigmented macules, Dry skin, Premature graying of hai...	OMIM:620331
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Gastrointestinal infarctions, Inflammato...	ORPHA:3287
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Diarrhea, Weight loss, Abnormal lymph node morphology...	ORPHA:54251
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Hearing impairment, Mottled pigmentation of photoexposed areas	OMIM:560000
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien...	ORPHA:3464
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Low posterior hairline, Normochromic anemia, Nonspherocytic hemo...	OMIM:611881
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia	ORPHA:90033
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina	ORPHA:2237
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Rectal prolaps...	ORPHA:79076
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:3085
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Overfolded helix, Cupped ear, Low-set ears	OMIM:617101
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence,...	OMIM:235200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Diarrhea, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Severe short stature, Anemia	ORPHA:3344
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:613011
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Ichthyosis With Confetti	Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma	OMIM:609165
Abetalipoproteinemia	Reticulocytosis, Acanthocytosis, Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorr...	ORPHA:14
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Chronic diarrhea,...	ORPHA:90362
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph...	OMIM:609033
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair	OMIM:614613
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Recurrent p...	OMIM:614868
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Microcytic anemia	OMIM:619013
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom...	ORPHA:79409
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,...	OMIM:258360
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Ocular albinism, Giant melanosomes in melanocytes, Freckling, Abnormal m...	ORPHA:54
Tuberculosis	Weight loss	ORPHA:3389
Solitary Fibrous Tumor	Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop...	ORPHA:2126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Recurrent pneumonia, Bronchiect...	OMIM:243700
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold, Protruding ear	OMIM:108145
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Myelodysplasia, Cryptorchidism, Micropenis, Leukemia	OMIM:619951
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Hearing impairment	ORPHA:329336
Glucagonoma	Acanthocytosis, Constipation, Adrenocortical adenoma, Subcutaneous lipoma, Elevated circulating g...	ORPHA:97280
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy, Hirsutism	ORPHA:228346
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Myelodysplasia, Shawl scrotum, Cryptorchidism, Esoph...	OMIM:617053
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Anal atresia, Erythroderma	OMIM:617425
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Splenomega...	OMIM:618935
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Trisomy 20P	Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster...	ORPHA:261318
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Spina bifida, Myelomeningocele, Blue irides, Pr...	OMIM:193500
Fountain Syndrome	Erythema, Spina bifida occulta, Spina bifida	ORPHA:3219
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Stevens-Johnson Syndrome	Acute hepatic failure, Dyspareunia, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality...	ORPHA:36426
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Lymphopenia, Reticulocytosis, Pericarditis, Maculopapu...	ORPHA:99826
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated circulating aspartate aminotransf...	OMIM:278000
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Low anterior hairline, White...	ORPHA:742
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Secretor...	OMIM:619377
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm, Obesity	ORPHA:404443
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Multiple lipomas	OMIM:600740
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticul...	ORPHA:79396
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Apert Syndrome	Cryptorchidism, Vaginal atresia	OMIM:101200
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation, Skin ulcer, Purpura	ORPHA:743
Fraser Syndrome 1	Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Extension of hair growth on temple...	OMIM:219000
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito...	ORPHA:343
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchidism, Bicornuat...	ORPHA:2052
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Cleft palate, Uveitis, Leiomyosarcoma, Melanom...	ORPHA:790
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Small for gestational age, Decreased response ...	ORPHA:699
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Joubert Syndrome 3	Low-set ears, Pigmentary retinopathy, Retinal dystrophy, Highly arched eyebrow	OMIM:608629
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian...	ORPHA:2959
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Cryptorchidism	OMIM:613224
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme level, Hirsutism, Scaling skin, Hypopigmentation of the skin, Hyperpi...	ORPHA:101330
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Diencephalic Syndrome	Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Failure to thrive, Small for gestational age...	OMIM:557000
Phakomatosis Pigmentokeratotica	Spina bifida, Raynaud phenomenon, Cryptorchidism, Melanocytic nevus, Arrhythmia	ORPHA:2874
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor	ORPHA:99931
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Vasculitis, Gastrointestinal infarctio...	ORPHA:91138
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis...	ORPHA:2137
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:241530
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Failure to thrive, Projectile vomiting	OMIM:179010
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut...	ORPHA:443811
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym...	ORPHA:1052
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recur...	ORPHA:275
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Hemochromatosis, Type 4	Hyperpigmentation of the skin, Cardiomyopathy, Impotence, Arrhythmia, Anemia	OMIM:606069
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio...	OMIM:608233
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Cafe-au-lait spot, Pallor, Neutropenia	OMIM:609053
Dermotrichic Syndrome	Anemia, Macrotia, Nail dystrophy, Hyperconvex toenail	ORPHA:99688
Retinoblastoma	Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Squalene Synthase Deficiency	Posteriorly rotated ears, Abnormality of hair pigmentation, Dry skin, Low-set ears, Macrotia	OMIM:618156
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Atopic dermatitis, We...	ORPHA:2902
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce...	OMIM:301078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Chronic diarrhea, Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis...	ORPHA:65682
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt...	OMIM:268315
Niemann-Pick Disease, Type A	Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia	OMIM:257200
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Fair hair	OMIM:302060
Neurofibromatosis Type 1	Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, ...	ORPHA:636
Microscopic Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abdominal pain, Conges...	ORPHA:727
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
H Syndrome	Abnormal eyebrow morphology, Alopecia, Histiocytosis, Diabetes mellitus, Microcytic anemia, Hyper...	ORPHA:168569
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Retinitis Pigmentosa 74	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Dubowitz Syndrome	Aplastic anemia, Eczema, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cle...	OMIM:223370
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Sensorineural hearing impairment, Low-set ears	OMIM:607906
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Chronic Granulomatous Disease	Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pylori...	ORPHA:379
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal, Hyperpigmentation of the skin, Adrenocorticotropic hormone excess	OMIM:613743
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patchy alopecia, N...	OMIM:615387
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hemolytic anemia, Thrombocytopenia, Splenomegaly, Loss of eyelashes, Hy...	OMIM:263700
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Abnormal erythrocyte enzyme l...	ORPHA:447
Hypophosphatemic Rickets, X-Linked Recessive	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300554
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Tricuspid regurgitation, Poor appetite, Anorexia, Bowel urgency, Right ventr...	ORPHA:100075
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Prolactinoma	Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma...	ORPHA:2965
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke...	ORPHA:289157
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Coarse hair...	ORPHA:585
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pigmentary retinopathy, Low-set ears, Neutropenia, Thrombocytopenia	ORPHA:79282
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Weight loss,...	OMIM:617321
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol...	OMIM:616433
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Hypospadias, Anemia	OMIM:620135
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility	OMIM:619518
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:290
Neuroblastoma, Susceptibility To, 1	Ganglioneuroblastoma, Diarrhea, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuroma, An...	OMIM:256700
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Erythroderma Desquamativum	Diarrhea, Failure to thrive, Seborrheic dermatitis	ORPHA:314
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, White hair, Anemia, Fine hair	ORPHA:935
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Holocarboxylase Synthetase Deficiency	Eczema, Weight loss, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema	ORPHA:79242
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Vomiting, Infectious encephalitis, Nausea, Leukoc...	ORPHA:1304
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Abnormal esoph...	OMIM:226600
Xeroderma Pigmentosum, Complementation Group B	Freckling, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr...	ORPHA:63259
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth...	ORPHA:79239
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Anonychi...	OMIM:106260
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
American Trypanosomiasis	Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Familial Benign Copper Deficiency	Early balding, Anemia	ORPHA:1551
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Pericarditis, Angina pectoris, Telang...	ORPHA:93672
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan...	ORPHA:167
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesi...	ORPHA:247691
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Spina bifida	ORPHA:1120
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Vaginal atresia, Nail dysplasia	OMIM:617088
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter	OMIM:617577
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Wide anterior fontanel, Growth delay, Decreased body weight, Abnormal cortical bon...	OMIM:614886
Vipoma	Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce...	ORPHA:97282
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Metrorrhagia, Petechiae, Anorexia, Abdominal pain, Diffuse alveo...	ORPHA:520
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97283
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis...	ORPHA:398079
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Fixed Drug Eruption	Vaginal mucosal ulceration, Hyperpigmentation of the skin	ORPHA:293812
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia...	ORPHA:456328
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial...	ORPHA:276
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neo...	ORPHA:723
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co...	ORPHA:2510
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Ecze...	OMIM:615816
Hamamy Syndrome	Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Sensorineural hearing impair...	OMIM:611174
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Bloody diar...	OMIM:175200
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Pallor, Thick hair, Hearing impairment	OMIM:617675
Gardner Syndrome	Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F...	ORPHA:160
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Neurofibromatosis, Type I	Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Hyperte...	OMIM:162200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Congestive heart failure, Gastroesophageal reflux, Decreased liver func...	ORPHA:70472
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Intestinal obstruc...	ORPHA:183
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss	ORPHA:103910
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Lymphadenopathy, Neoplasm of the skin	OMIM:254400
Pleural Mesothelioma	Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali...	OMIM:614077
Agammaglobulinemia, X-Linked	Epididymitis, Agammaglobulinemia, T lymphocytopenia, Lymph node hypoplasia, Decreased circulating...	OMIM:300755
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia	ORPHA:89937
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia, Sensorineural hearing impairment, Hearing impairment	OMIM:612073
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,...	ORPHA:679
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr...	ORPHA:83617
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Spina bifida, Cryptorchidism, Hydrocephalus, Hypopigm...	ORPHA:84
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ...	OMIM:615468
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis	ORPHA:664
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Hirsutism	OMIM:619318
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, High, narrow palate, Cryptorchidism, Increased mean ...	ORPHA:33364
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:264700
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Multiple myeloma, Pancreatitis	ORPHA:188
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Adenohypophysitis	Decreased female libido, Sensorineural hearing impairment, Normochromic anemia, Impotence, Decrea...	ORPHA:95512
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:277440
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hydrometrocolpo...	OMIM:150230
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Hypereosinophilia, Weight loss	ORPHA:449400
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Hermansky-Pudlak Syndrome 4	Menorrhagia, Ocular albinism, Albinism	OMIM:614073
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpigmentation, Abnor...	ORPHA:3063
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Bowel urgency, Anorexia, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Bowel urgency, Anorexia, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100082
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, ...	ORPHA:1546
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Diarrhea, Iron deficiency anemia, Abnormal intestine morph...	OMIM:226300
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ...	ORPHA:90051
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephaliti...	ORPHA:391487
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub...	OMIM:308750
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology, Squamous c...	ORPHA:542592
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric...	ORPHA:89842
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di...	ORPHA:39812
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea, Conjunctivit...	OMIM:253260
Refsum Disease	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Retinopathy, Nail dysplasia	ORPHA:773
Malt Lymphoma	B-cell lymphoma, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Constipation, Posteri...	ORPHA:52417
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Abn...	ORPHA:330015
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Dy...	ORPHA:537
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Abnormal hair whorl, Premature graying of...	ORPHA:902
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility	OMIM:617952
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo...	ORPHA:3240
Brittle Cornea Syndrome 1	Red hair, Palmoplantar cutis laxa	OMIM:229200
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:612840
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Poems Syndrome	Lymphoproliferative disorder, Abnormality of skin physiology, Weight loss, Lymphadenopathy, Hypog...	ORPHA:2905
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Low-set ears	OMIM:617102
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Low-set ears, Neutropenia	OMIM:617941
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Noonan Syndrome 2	Cryptorchidism, Leukemia, High palate	OMIM:605275
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Melanoma, Gastroesophageal reflux, Oral leukoplakia, Squamous cell carcinom...	OMIM:620040
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia	ORPHA:3099
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia	OMIM:273395
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hypogonadotropic hypogonadism, Splenomegaly, Weight loss, Arthritis, Infertil...	ORPHA:465508
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Classic Homocystinuria	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Sparse scalp hair, Anorexia, Pu...	ORPHA:394
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocyto...	OMIM:153670
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Iron deficiency anemia, Alopecia	OMIM:269200
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost...	ORPHA:90291
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Congenital Disorder Of Glycosylation, Type Iit	Conductive hearing impairment, Iron deficiency anemia, Posteriorly rotated ears, Low-set ears	OMIM:618885
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Failure to thrive, Conjunctivitis, Erythroderma	OMIM:242150
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Sensorineural hearing impairment, HbH hemoglobin, Low-set ears	ORPHA:423479
Mevalonic Aciduria	Normocytic hypoplastic anemia, Posteriorly rotated ears, Fluctuating splenomegaly, Thrombocytopen...	OMIM:610377
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Erythroderma	OMIM:609180
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Bronchogenic Cyst	Abnormal esophagus morphology, Pneumonia, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Renpenning Syndrome	Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia	ORPHA:3242
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder	ORPHA:70591
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicocele, Weight loss, Infertility, Nausea, An...	ORPHA:71273
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ...	ORPHA:2298
Juvenile Xanthogranuloma	Iritis, Blepharitis, Myeloproliferative disorder, Uveitis	ORPHA:158000
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation, Precocious puberty	ORPHA:457260
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Anemia, Hypochromi...	OMIM:619147
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hypospadia...	ORPHA:66634
Hermansky-Pudlak Syndrome 7	Menorrhagia, Ocular albinism, Albinism	OMIM:614076
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Recon Progeroid Syndrome	Attached earlobe, Thrombocytopenia, Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, M...	OMIM:620370
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Failure to thrive, Skin rash, Follicular hyperplasia, Pustule, Malar rash, Paratracheal...	OMIM:615934
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocy...	ORPHA:508542
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Splenomegaly, Paralytic ileus, Melena, Prolon...	OMIM:276700
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Pruritus, Sple...	ORPHA:50918
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit...	ORPHA:133
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Nephroblastoma, Failure to thrive i...	ORPHA:798
Pagod Syndrome	Encephalocele, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meningocele, Arrhyt...	ORPHA:991
Attrv30M Amyloidosis	Diarrhea, Constipation, Impotence, Weight loss	ORPHA:85447
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Neoplasm of the central nervous system, Abnormalit...	ORPHA:744
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
Dent Disease 1	Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300009
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Constipation, Adrenocortica...	ORPHA:97261
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony cortex	OMIM:230600
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Acrodermatitis Enteropathica	Glossitis, Malabsorption, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Weight loss, Con...	ORPHA:37
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Lymphoproliferative disorder, Erythema nodosum, Splenomegaly, Le...	OMIM:615688
Degcags Syndrome	Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le...	OMIM:619488
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ...	ORPHA:2484
Chand Syndrome	Curly hair, Imperforate hymen, Nail dysplasia	ORPHA:1401
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala...	ORPHA:793
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98793
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Hermansky-Pudlak Syndrome 5	Metrorrhagia, Albinism, Ocular albinism, Iris transillumination defect, Menorrhagia	OMIM:614074
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Decreased liver function, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Decreased liver function, Anemia	OMIM:618839
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na...	ORPHA:678
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Albinism, Decreased circulating IgG2 l...	OMIM:242840
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c...	OMIM:617100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177904
Hallermann-Streiff Syndrome	Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Dry ...	OMIM:234100
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97278
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr...	ORPHA:91347
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Abnormality of the uterus, ...	ORPHA:567
Hepatoerythropoietic Porphyria	Hemolytic anemia, Scarring alopecia of scalp, Erythroid hyperplasia, Loss of eyelashes, Splenomeg...	ORPHA:95159
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ...	OMIM:617718
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177901
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Cachex...	ORPHA:109
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Caroli Disease	Cholangiocarcinoma, Liver abscess, Cholangitis, Pruritus, Splenomegaly, Leukocytosis, Esophageal ...	ORPHA:53035
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Short Stature With Microcephaly And Distinctive Facies	Sparse scalp hair, Sparse eyebrow, Spotty hypopigmentation, Anisopoikilocytosis, Spotty hyperpigm...	OMIM:615789
Focal Dermal Hypoplasia	Telangiectasia of the skin, Spina bifida, Erythema, Abnormality of skin pigmentation, Umbilical h...	ORPHA:2092
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Frontal upswe...	OMIM:612582
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Menkes Disease	Nausea and vomiting, Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Feedin...	ORPHA:565
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Mitral stenosis, Tethered cord, Aortic valve stenosis, Spinal dysraphism	OMIM:617660
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Squamous Cell Carcinoma Of The Anal Canal	Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi...	ORPHA:424019
Rubinstein-Taybi Syndrome 1	Accessory spleen, Small for gestational age, Hypospadias, Premature thelarche, Bilateral cryptorc...	OMIM:180849
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Spl...	ORPHA:163746
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Bowel urgency, Anorexia, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100080
Riboflavin Transporter Deficiency	Hypogonadism, Cachexia, Dysphagia	ORPHA:97229
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Gaucher Disease, Type I	Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia	OMIM:230800
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat...	ORPHA:781
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Dravet Syndrome	Pallor	ORPHA:33069
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc...	ORPHA:573278
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
X-Linked Dominant Chondrodysplasia Punctata	High palate, Erythroderma	ORPHA:35173
Chronic Mucocutaneous Candidiasis	Dyspareunia, Abnormal fingernail morphology, Broad nail, Abnormal toenail morphology, Abnormal va...	ORPHA:1334
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Myeloproliferative dis...	OMIM:190685
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, Retinal pigme...	OMIM:251260
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis,...	OMIM:274000
Harlequin Ichthyosis	Erythroderma	ORPHA:457
Trisomy 18	Abnormality of retinal pigmentation, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly	ORPHA:3380
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym...	ORPHA:83471
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eyebrow, Multiple cafe-au-lait s...	ORPHA:2637
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Gastrointestinal at...	ORPHA:436252
Liposarcoma	Weight loss, Sarcoma	ORPHA:69078
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Arthrit...	OMIM:617591
Combined Oxidative Phosphorylation Deficiency 53	Hypochromic microcytic anemia	OMIM:619423
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Abnormal vagina morphology, Ab...	ORPHA:2315
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, Lymphaden...	OMIM:607944
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepato...	ORPHA:264580
Sympathetic Ophthalmia	Papilledema, Alopecia, Retinal detachment, Hearing impairment, Poliosis, Vitreous floaters, Vitri...	ORPHA:79098
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorior...	ORPHA:2526
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra...	ORPHA:249
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Neu-Laxova Syndrome	Hypogonadism, Lack of skin elasticity, Spina bifida	ORPHA:2671
Fanconi Anemia, Complementation Group P	Pancytopenia, Vitiligo, Cafe-au-lait spot, Anemia, Hearing impairment	OMIM:613951
Chronic Hiccup	Weight loss	ORPHA:396
Granulomatosis With Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrha...	ORPHA:900
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cachexia, Hypersplenism, Pruritus, Diarrhea, Vacuolated lymphocytes, Esop...	ORPHA:275761
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope...	OMIM:603467
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or...	ORPHA:556
Leukocyte Adhesion Deficiency Type Ii	Broad eyebrow, Neutrophilia, Microcytic anemia, Leukocytosis, Low anterior hairline, Microtia, Lo...	ORPHA:99843
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida	ORPHA:1393
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Thrombocytopenia, Fine hair, Premature graying of hair, Intestinal bleedi...	OMIM:612199
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Icf Syndrome	Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia	ORPHA:2268
Digeorge Syndrome	Acne, Parathyroid agenesis, Seborrheic dermatitis, Splenomegaly, High, narrow palate, Recurrent p...	OMIM:188400
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, ...	ORPHA:309031
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Weight loss	ORPHA:767
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b...	OMIM:301000
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Prot...	ORPHA:50
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph...	ORPHA:464
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Vomiting, C...	ORPHA:171876
Ellis Van Creveld Syndrome	Hypospadias, Cryptorchidism, Epispadias, Abnormal morphology of female internal genitalia, Acute ...	ORPHA:289
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Hepatosplenomegaly, Syno...	ORPHA:85408
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
Huntington Disease	Decreased body mass index, Weight loss, Abnormal libido, Oral-pharyngeal dysphagia	ORPHA:399
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Precocious puberty, High anterior hairline, Low anterior hairline, Long eyelashes, Ho...	OMIM:619950
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Hepatosplenomegaly, Weight loss, ...	OMIM:619487
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Generalized hypopigmentation, Iris transillumination defect	OMIM:617306
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Intraventricular hemorrhage, Du...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Intraventricular hemorrhage, Du...	ORPHA:363958
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Chronic diarrhea, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sp...	OMIM:158310
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Spina bifida	ORPHA:99776
Acute Adrenal Insufficiency	Normocytic anemia, Decreased female libido, Sparse axillary hair, Hyperpigmentation of the skin, ...	ORPHA:95409
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Fine hair...	OMIM:222470
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Ambiguous genitali...	OMIM:202010
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Hearing impairment, Hypertrichosis	OMIM:309900
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Var...	ORPHA:49041
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo...	OMIM:612541
Leopard Syndrome 1	Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Multiple lentigines, Aplasia of...	OMIM:151100
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Retinal pigment epithelial mottling, Sensorineural hearing impairment, ...	OMIM:618733
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph...	ORPHA:847
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Isaacs Syndrome	Weight loss	ORPHA:84142
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding	OMIM:160900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis	OMIM:259100
Immunoglobulin A Vasculitis	Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Orchitis, Vasculitis,...	ORPHA:761
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Abnormal helix morphology	OMIM:214110
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis	OMIM:609536
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal a...	ORPHA:2538
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy...	OMIM:600145
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Optic disc pallor, Thick hair, Hearing impairment	ORPHA:502423
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Schwannoma, Weight loss, Neoplasm	ORPHA:221098
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Anemia	ORPHA:440713
Familial Hypocalciuric Hypercalcemia	Lipoma, Peptic ulcer, Pancreatitis	ORPHA:405
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Weight loss, Neoplasm of the nervo...	ORPHA:100086
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Hypoplasia of the ovary, Generalized hypopigmentation, Micropenis, Decrea...	OMIM:619321
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc...	ORPHA:398069
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, High, narrow palate, Obesity, Mac...	ORPHA:369950
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Abnormality of skin pigmenta...	ORPHA:75496
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ...	ORPHA:192
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu...	ORPHA:32960
Behçet Disease	Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Malab...	ORPHA:117
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Prominent antihelix, Poikilocytosis, Macrotia	OMIM:618947
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Neu-Laxova Syndrome 2	Spina bifida	OMIM:616038
Beta-Ketothiolase Deficiency	Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology	ORPHA:2123
Aicardi-Goutières Syndrome	Enchondroma, Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukem...	ORPHA:51
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Ecchymosis, Intern...	ORPHA:99827
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Diarrhea, Weight loss, Neoplasm of the lung, Neoplasm of t...	ORPHA:100085
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Splenomegaly, Pallor, Anemia, Hearing impairment	ORPHA:667
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Reduced alpha/beta sy...	OMIM:301040
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f...	ORPHA:3206
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Erythroderma	OMIM:302960
Familial Tumoral Calcinosis	Splenomegaly, Erythema, Hypopigmented skin patches	ORPHA:53715
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m...	ORPHA:2369
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Nail-Patella Syndrome	Spina bifida, Lester's sign	OMIM:161200
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism, Hepatosplenomegaly, Failure to th...	OMIM:613563
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Thrombocytopenia	OMIM:301072
Fibular Hemimelia	Thrombocytopenia, Spina bifida	ORPHA:93323
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Small for gestational age, Short stature, T...	OMIM:127000
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Gm1 Gangliosidosis	Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Gastroesophageal reflux, Abnormality...	ORPHA:354
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormal eyelash...	ORPHA:2556
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Small nail, M...	OMIM:140000
Kindler Epidermolysis Bullosa	Recurrent skin infections, Phimosis, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Sq...	ORPHA:2908
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Cafe-au-...	ORPHA:813
Localized Scleroderma	Abnormal skin adnexa morphology, Erythema, Hypopigmented skin patches, Patchy alopecia, Hyperpigm...	ORPHA:90289
Usher Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Vestibular areflexia, Tinn...	ORPHA:886
Nodular Non-Suppurative Panniculitis	Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Weight loss	ORPHA:33577
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia	OMIM:616457
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, High palate, Cryptorchidism	OMIM:609942
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Denys-Drash Syndrome	True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro...	OMIM:194080
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples...	OMIM:103285
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Weight loss	ORPHA:178029
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Aceruloplasminemia	Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration	ORPHA:48818
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Alopecia, Progressive sensorineural hearing impa...	OMIM:203800
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystade...	ORPHA:276280
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Huntington Disease-Like 2	Weight loss	OMIM:606438
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Pruritus, Splenomeg...	ORPHA:171
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Hypoplasia of the thymus, N...	ORPHA:1896
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Mulibrey Nanism	Cachexia	ORPHA:2576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Tethered cord, Spinal dysraphism	OMIM:612918
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fumarase Deficiency	Intrahepatic cholestasis, Pallor, Hepatic failure, Mitochondrial swelling, Polycythemia	OMIM:606812
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Camptobrachydactyly	Septate vagina	OMIM:114150
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches	ORPHA:96061
Nelson Syndrome	Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, An...	ORPHA:199244
Tay-Sachs Disease	Pallor	OMIM:272800
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Ulnar-Mammary Syndrome	Small scrotum, Sparse axillary hair, Breast hypoplasia, Bicornuate uterus, Hypoplastic nipples, A...	OMIM:181450
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Sensorineural hearing impairment, Leukopenia, ...	OMIM:300972
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Hearing impairment, Hypertrichosis	OMIM:266270
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Bilateral sensorineural hearing impairment	ORPHA:436271
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus...	OMIM:618820
Hemorrhagic Fever-Renal Syndrome	Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdominal pain, Leuko...	ORPHA:340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ...	OMIM:129900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Anal fissure, Gastrointestinal inflammation, Squam...	ORPHA:79408
Cystic Echinococcosis	Eosinophilia, Abnormality of the testis size, Abscess, Weight loss, Membranous nephropathy, Ovari...	ORPHA:400
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Transketolase Deficiency	Secondary amenorrhea, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Diarrhea, Enthesitis, Weight loss, Arthritis, Inflammation ...	ORPHA:29207
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ...	OMIM:604292
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Rhizomelia, Short stature, Generalized joint laxity, Decreased calvaria...	OMIM:613848
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Tropical Pancreatitis	Pancreatic adenocarcinoma, Weight loss, Pancreatic calcification, Chronic calcifying pancreatitis...	ORPHA:103918
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Vomiting, Seborrheic dermatitis	OMIM:210210
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy, Diarrhea, Bronchiectasis, Weight loss	ORPHA:411703
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Cleft palate, Acute lymphoblastic leukemia, Hydrocele testis, Hypoplas...	OMIM:280000
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Low-set ears, Protruding ear	OMIM:614230
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Short stature, Small for gestational age, Rickets, Reduce...	OMIM:613658
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Aredyld Syndrome	Splenomegaly, Refractory anemia with ringed sideroblasts, Cachexia	ORPHA:1133
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Iron deficiency anemia, Early balding, Low posterior hairline	ORPHA:261584
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Pancreatic cysts, Weight loss, Abnormal spleen morpholo...	ORPHA:284
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Pruritus, Myocarditis, Gastrointestinal stroma tumo...	ORPHA:221
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Chime Syndrome	Cleft palate, Acute leukemia	ORPHA:3474
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosplenomegaly, Prol...	ORPHA:247598
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Brushfield spots, Sensorineural hearing impairment, ...	OMIM:214100
Multiple Myeloma	Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Weight loss,...	ORPHA:29073
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Wild Type Attr Amyloidosis	Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia...	ORPHA:330001
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Thick hair, Thickened helices, Retinal degeneration, Abnormality of the...	ORPHA:581
Williams Syndrome	Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Peptic ulcer, Failure to...	ORPHA:904
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Holoprosencephaly	Encephalocele, Cryptorchidism, Hydrocephalus, Abnormality of the spleen, Spinal cord tumor, Spina...	ORPHA:2162
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Loeffler Endocarditis	Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Vomiting, Nausea, Weight loss	ORPHA:90003
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy	OMIM:220110
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, Esophageal stricture, Diarrhea, ...	ORPHA:99921
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:167100
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Jacobsen Syndrome	Thrombocytopenia, Cryptorchidism, Aortic valve stenosis, Spina bifida	ORPHA:2308
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Keratoconjunctivitis...	ORPHA:79128
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Hypospadias	ORPHA:2522
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Cholelithiasis, ...	ORPHA:77293
Monosomy 13Q34	Metrorrhagia, Epistaxis, Hematochezia, Prolonged prothrombin time, Horizontal eyebrow, Pulmonic s...	ORPHA:96168
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Sensorineural hearing impairment, Optic nerve dysplasia, Optic atrophy, Pigment...	OMIM:614866
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Heart block, Spinal dysraphism, Cardiomyopathy, Neutropenia,...	ORPHA:175
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Cockayne Syndrome A	Dry hair, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Retina...	OMIM:216400
Adams-Oliver Syndrome 1	Supernumerary nipple, Alopecia, Imperforate hymen, Small nail	OMIM:100300
Chromosome 17Q12 Deletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's...	OMIM:305400
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Plasminogen Deficiency, Type I	Nephritis, Conjunctivitis, Periodontitis, Duodenal ulcer	OMIM:217090
Erdheim-Chester Disease	Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Weight loss, Anemia	ORPHA:35687
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Melas	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Vitiligo, Hypertrichosis	ORPHA:550
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Optic atrophy, Long eyelashes, Hypertrichosis	ORPHA:505248
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, Protruding ear, Overfolded helix, Dry skin	ORPHA:96169
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Small for gestational age, Allergic rhinitis, Hypospadias, Aller...	OMIM:176690
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Alg9-Cdg	Low posterior hairline, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples, Hypertri...	ORPHA:79328
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong...	ORPHA:90062
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Urinary bladder ...	ORPHA:449395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Spina bifida	ORPHA:508498
Proteasome-Associated Autoinflammatory Syndrome 1	Hyperpigmentation of the skin, Sparse axillary hair, Microcytic anemia, Splenomegaly, Irregular m...	OMIM:256040
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Abnormality of reproductive sys...	ORPHA:1501
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Bronchial Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormone concentrati...	ORPHA:97287
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Osteopetrosis, Anemia	OMIM:612301
Graves Disease, Susceptibility To, 1	Goiter, Weight loss	OMIM:275000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert...	ORPHA:90794
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia	OMIM:616801
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Hypersplenism, Splenomegaly...	ORPHA:731
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, H...	OMIM:609136
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Severe short stature, Cranial hyperostosis, Limitation of joint m...	ORPHA:2658
Hardikar Syndrome	Cholangitis, Cleft soft palate, Intestinal malrotation, Hypersplenism, Splenomegaly, Pruritus, Ce...	OMIM:301068
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Splenomegaly, Sparse hair, Hypopigmentation of the skin	OMIM:252500
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Palmar telangi...	OMIM:613471
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic...	OMIM:608710
Cockayne Syndrome B	Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog...	OMIM:133540
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Posteriorly rotated ears, Underfolded helix, Protruding ear, Iron deficiency anemia, Abnormal ant...	ORPHA:93315
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocytic nevus, Freckli...	ORPHA:910
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde...	ORPHA:512
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Alopecia, Premature ovarian...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Alopecia, Premature ovarian...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Alopecia, Premature ovarian...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Alopecia, Premature ovarian...	ORPHA:881
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b...	OMIM:309583
Pulmonary Arteriovenous Malformation	Iron deficiency anemia	ORPHA:2038
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
Poland Syndrome	Hypospadias, Retinal hamartoma, Cryptorchidism, Acute leukemia, Neoplasm of the breast	ORPHA:2911
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Lymphangioleiomyomatosis	Abnormality of skin pigmentation, Ungual fibroma, Gastrointestinal hemorrhage, Abdominal pain	ORPHA:538
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Hypospadias, Phimosis, Cryptorchidis...	ORPHA:821
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Rift Valley Fever	Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Anemia, Melena, Gingival bleeding, ...	ORPHA:319251
Hereditary Acrokeratotic Poikiloderma	Erythema, Hypopigmented skin patches, Skin ulcer, Nail dystrophy, Irregular hyperpigmentation, Dy...	ORPHA:2907
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Weight loss	ORPHA:99978
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Iridocyclitis, Mediastinal lymphadenopat...	OMIM:181000
Spondyloocular Syndrome	Osteopenia, Short stature, Thin bony cortex, Decreased body weight	OMIM:605822
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum	ORPHA:1974
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Neu-Laxova Syndrome 1	Spina bifida, Cryptorchidism, Stillbirth, Neonatal death, Short umbilical cord, Small placenta, H...	OMIM:256520
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Obesity, Weight loss, High palate	ORPHA:251071
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Brittle Cornea Syndrome	Conductive hearing impairment, Retinal detachment, Sensorineural hearing impairment, Abnormality ...	ORPHA:90354
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Dry hair, R...	ORPHA:191
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior...	ORPHA:233
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Retinal degeneration, Optic atrophy, Hyperpigmentation of the skin	OMIM:234200
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Maculopapular exanthema, Eosinophili...	ORPHA:797
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Micropenis, High palate, Seborrheic dermatitis	OMIM:300868
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Giant Cell Arteritis	Pericarditis, Mediastinal lymphadenopathy, Weight loss, Arthritis, Gastrointestinal infarctions, ...	ORPHA:397
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin, Hepatosplenomegaly	OMIM:301066
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid ...	ORPHA:79078
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Tangier Disease	Hepatosplenomegaly, Anemia, Nail dystrophy, Dry skin, Thrombocytopenia	ORPHA:31150
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm...	OMIM:219800
Weill-Marchesani Syndrome 1	Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness	OMIM:277600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture	OMIM:225400
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive...	ORPHA:544482
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy, Furrowed tongue, Macroglossia	ORPHA:2483
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Right ventricular failure, Celiac...	ORPHA:90363
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hypersplenism, Hemate...	ORPHA:480520
Aicardi Syndrome	Spina bifida	OMIM:304050
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity, Hypogonadism, High palate, Decreased testicular size	ORPHA:85293
Perry Syndrome	Weight loss	ORPHA:178509
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Osteogenesis Imperfecta	Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Small for gestational age, Fractures ...	ORPHA:666
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive	ORPHA:217346
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Aganglionic megacolon, Hypospadias, Keratitis, Cryptorchidism,...	OMIM:308205
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Weight loss	OMIM:188580
Exstrophy-Epispadias Complex	Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction	ORPHA:322
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Otosclerosis, Abnormal foveal morphology, Senso...	ORPHA:580
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Cachexia	ORPHA:42
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Trichiasis, Highly arched eyebrow, Sensorineural hearing impairment	OMIM:618460
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Weight loss	OMIM:613239
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy	OMIM:300707
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly, Ocular albinism, Albinism	OMIM:617050
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Highly arched eyebrow, Feeding difficulties in infancy, Nasogastric ...	ORPHA:508488
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Hypoplastic toenails, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imper...	OMIM:619522
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Skin ulcer, Anemia, Nail dystrophy, Neutropenia, Anonychia, Hypopigmentation of the s...	ORPHA:95455
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:466768
Yellow Fever	Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Abdominal pain, Excessive bl...	ORPHA:99829
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure	OMIM:613812
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Constipation, Cachexia	ORPHA:371364
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Thrombocytopenia, Splenomegaly, Low-set ears, Anemia	OMIM:619525
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Growth delay, Camptodactyly, Cortical irregularity	OMIM:249420
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time	OMIM:214950
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea	OMIM:229600
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Otosclerosis, Abnormal foveal morphology, Senso...	ORPHA:217085
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Uterus didelphys, Septate vagina, Low posterior hairline	OMIM:617925
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Recurrent skin infections, Congenital pyloric atresia, Intestinal a...	ORPHA:79403
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Otosclerosis, Abnormal foveal morphology, Senso...	ORPHA:217093
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormal hair pattern, Absent eyelashes...	ORPHA:920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Glucose-Galactose Malabsorption	Diarrhea, Failure to thrive, Vomiting, Weight loss	ORPHA:35710
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Sensorineural hearing impairment	OMIM:607459
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia	OMIM:304120
Mckusick-Kaufman Syndrome	Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly	ORPHA:2473
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment	OMIM:272460
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Osteosarcoma	Weight loss	ORPHA:668
Ogden Syndrome	Sparse eyebrow, Cryptorchidism, Protruding ear, Fine hair, Iron deficiency anemia, Hydrocele test...	OMIM:300855
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W...	ORPHA:91500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o...	OMIM:619475
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus	OMIM:192350
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Joint stiffness, Elbow flexion contracture, Flexion c...	OMIM:608328
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Thrombocytopenia, Skin ulcer, Fine hair, Generalized hypopigmentation, Anemia	ORPHA:534
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Aspartylglucosaminuria	Macroorchidism	OMIM:208400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Cryptorchidism, Large placenta, Hepatosplenomegaly, Spinal dysraphism, Cutis...	ORPHA:96334
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic atrophy, Optic disc pallor	ORPHA:404454
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, Ot...	ORPHA:420741
Meacham Syndrome	Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina	OMIM:608978
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Cervical neoplasm, Pallor	ORPHA:653
Esophageal Atresia	Abnormal external genitalia, Pallor	ORPHA:1199
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
African Trypanosomiasis	Pericarditis, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Myocarditis, Pruritus,...	ORPHA:3385
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Hypertension	OMIM:263200
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hearing impairment	OMIM:309801
Johanson-Blizzard Syndrome	Sparse scalp hair, Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Cafe-au-l...	OMIM:243800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Dysphagia	ORPHA:411602
Currarino Syndrome	Bicornuate uterus, Rectovaginal fistula, Septate vagina	OMIM:176450
Adenocarcinoma Of The Anal Canal	Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t...	ORPHA:424016
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Thyroid hyperplasia, Weight loss	ORPHA:99819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Pallor	OMIM:253280
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Short stature, Thin bony cortex	OMIM:619727
20Q13.33 Microdeletion Syndrome	Hematochezia, Highly arched eyebrow	ORPHA:261311
Perry Syndrome	Weight loss	OMIM:168605
Alagille Syndrome 1	Pigmentary retinopathy, Macrotia, Chorioretinal atrophy, Low-set ears	OMIM:118450
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Pigmentary retinopathy, Low-set ears, Sparse hair, Tinnitus	OMIM:606721
Ring Chromosome 13 Syndrome	Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Abnormality of skin pigmenta...	ORPHA:96176
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormality of female external genitalia, Vaginal fistula, Anonychia, Persistent cloaca	ORPHA:1112
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Slender build, Anemia	ORPHA:1328
Pancreatoblastoma	Diarrhea, Abnormal lymph node morphology, Weight loss, Vomiting, Pancreatic calcification	ORPHA:677
Short Syndrome	Weight loss	ORPHA:3163
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi...	OMIM:270400
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Otitis media, Hepatosplenomegaly	ORPHA:576
Alkaptonuria	Abnormality of skin pigmentation, Irregular hyperpigmentation, Prostatitis, Abnormality of the nail	ORPHA:56
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic...	ORPHA:99646
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Schwartz-Jampel Syndrome	Cachexia, Cleft palate, Odontogenic neoplasm, High palate, Decreased body weight, Testicular tors...	ORPHA:800
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy	OMIM:618183
Pulmonary Alveolar Microlithiasis	Decreased fertility, Bronchiectasis, Weight loss, Gonadal calcification, Testicular microlithiasis	ORPHA:60025
Neurofibroma	Multiple intestinal neurofibromatosis, Intestinal bleeding, Melanocytic nevus	ORPHA:252183
Congenital Fiber-Type Disproportion Myopathy	Weight loss, High palate, Aspiration pneumonia, Dysphagia, Failure to thrive	ORPHA:2020
Goodpasture Syndrome	Pallor, Anemia, Pulmonary hemorrhage	OMIM:233450
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Optic disc hypoplasia, Posteriorly rotated ears, Synophrys, Optic atrophy, Pig...	ORPHA:3455
Choreoacanthocytosis	Protruding tongue, Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis, Weight loss, ...	ORPHA:2388
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res...	ORPHA:273
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Cystic Fibrosis	Male infertility, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Hepatosplenomegaly, Steatorrh...	OMIM:219700
Pallister-Hall Syndrome	Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla...	ORPHA:672
Plague	Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En...	ORPHA:707
Gitelman Syndrome	Iron deficiency anemia, Tinnitus	ORPHA:358
Microphthalmia, Syndromic 2	Hypospadias, Septate vagina, Cryptorchidism, Laterally curved eyebrow, Thick eyebrow	OMIM:300166
Xfe Progeroid Syndrome	Failure to thrive, Premature ovarian insufficiency, Cachexia	OMIM:610965
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus	ORPHA:201
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Dysphagia	OMIM:164310
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, Cryptorc...	ORPHA:818
Mend Syndrome	Redundant neck skin, Spotty hypopigmentation	OMIM:300960
Ring Chromosome 7 Syndrome	Hypospadias, Highly arched eyebrow, Low anterior hairline, Abnormality of skin pigmentation, Hydr...	ORPHA:1449
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Stickler Syndrome	Slender build, Cachexia, Osteoarthritis, Uveitis, Cleft palate, Glossoptosis, Macroglossia, Gastr...	ORPHA:828
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Weight loss	ORPHA:79102
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Osteoarthritis, Weight loss, High palate, Hypoplastic male external genitali...	ORPHA:740
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Chronic constipation, Feeding difficulties	OMIM:619575
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Weight loss	ORPHA:99885
Marfan Syndrome	Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build	ORPHA:558
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi...	ORPHA:857
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Horizontal...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hypospadias, Septate vagina, Highly arched eyebrow, Cryptorchidism, Hydrocele test...	ORPHA:261552
Norrie Disease	Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Neoplasm of the eye, Failure to ...	ORPHA:649
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labi...	OMIM:261540
Seckel Syndrome	Cachexia	ORPHA:808
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Bifid uterus	OMIM:236680
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia, Cachexia	ORPHA:75565
Deafness, Autosomal Dominant 69	Sensorineural hearing impairment	OMIM:616697

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kitl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kitl.

No publications found that use IMPC mice or data for Kitl.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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