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Gene: Kit MGI:96677

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kit mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
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
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... ORPHA:998
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Albinism-Deafness Syndrome
Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini... OMIM:300700
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Deafness, Congenital, With Total Albinism
Albinism, Hearing impairment OMIM:220900
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
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 3
Female infertility OMIM:617712
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
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails ORPHA:700
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Abnormality of skin pigmentation OMIM:300719
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Immunodeficiency 7
Diarrhea, Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia... OMIM:615387
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha granules, Retic... OMIM:314050
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas... OMIM:619846
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Piebaldism
Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr... ORPHA:2884
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Macro... OMIM:620501
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ... OMIM:270750
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Gastrointestinal Stromal Tumor
Neurofibroma, Gastrointestinal stroma tumor, Dysphagia, Intestinal obstruction OMIM:606764
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the ovary, Abnormality o... ORPHA:543
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production... OMIM:615631
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Gastric Cancer
Stomach cancer OMIM:613659
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine... OMIM:155100
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Hemangioma, Facial erythema ORPHA:284227
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Abcd Syndrome
Albinism, Polycythemia, White eyebrow, White eyelashes OMIM:600501
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides OMIM:103500
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat... OMIM:617443
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
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
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Thrombocytopenia OMIM:137560
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Alpha-Heavy Chain Disease
Alopecia, Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lym... ORPHA:100025
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Mild postnatal gr... OMIM:224120
Alopecia Universalis
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... ORPHA:701
Classic Mycosis Fungoides
Erythema, Alopecia, Neoplasm of the skin, Skin ulcer, Lymphoma, Dry skin, Abnormal lymphocyte mor... ORPHA:2584
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen... ORPHA:494444
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Birk-Aharoni Syndrome
Hearing impairment, Thick eyebrow, Cryptorchidism, Macrocytic anemia, Micropenis OMIM:620071
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H... OMIM:615234
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Ovarian Dysgenesis 1
Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233300
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Plethora, Increased circulating hemoglobin c... OMIM:263400
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Deleted in azoospermia
Azoospermia OMIM:400003
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Miscarriage OMIM:136580
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment OMIM:300650
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Hypermelanotic macule OMIM:154800
Myh9-Related Disease
Giant platelets, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutrophil inclus... ORPHA:182050
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Pyknoachondrogenesis
Stillbirth OMIM:265880
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Abno... OMIM:598500
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothromb... OMIM:620486
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... OMIM:146110
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... OMIM:614480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Splenomegaly,... OMIM:153670
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
Atransferrinemia
Hypochromic anemia OMIM:209300
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Neutropenia OMIM:610798
Majeed Syndrome
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... OMIM:609628
Barrett Esophagus
Barrett esophagus, Esophageal carcinoma, Gastroesophageal reflux, Esophageal ulceration OMIM:614266
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Cerebral atrophy, Sideroblastic anemia... OMIM:222300
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:79084
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri... OMIM:161900
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr... OMIM:620367
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemi... OMIM:236270
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Hypogon... ORPHA:848
Hirschsprung Disease
Diarrhea, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, In... ORPHA:388
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Postnatal growth retardation, Lymphopenia, Splenome... OMIM:620603
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal fingernail m... ORPHA:75564
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... OMIM:617021
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Bone marrow hypocellularity, Increased circulating co... ORPHA:562
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Jejunal Atresia
Jejunal atresia OMIM:243600
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Hypopigmented skin patches, Premature gray... ORPHA:3440
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Gastroesophageal Reflux
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm OMIM:109350
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:224100
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Vitiligo, Abnormal B cell count, Autoimmune hemo... OMIM:620430
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Rosaï-Dorfman Disease
Anemia, Erythema, Lymphadenopathy ORPHA:158014
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic ane... OMIM:612561
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Infantile Myofibromatosis
Neoplasm of the skin, Irregular hyperpigmentation, Abnormal hair morphology, Benign neoplasm of t... ORPHA:2591
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s... OMIM:619046
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... OMIM:601775
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Slc35A1-Cdg
Giant platelets, Subcutaneous hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Podocyte foot ... OMIM:617006
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Bruising susceptibility, Leukocytosis,... ORPHA:729
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Anemia, Abdominal pain, Sa... ORPHA:83469
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail, Death in childhood OMIM:302000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Vitiligo, Splenomegaly, Au... OMIM:614700
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Hyperbilirubinemia, Reticulo... ORPHA:71275
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Se... OMIM:249270
Ovarian Fibrothecoma
Abdominal distention, Abnormality of the ovary, Gonadal calcification, Fibrosarcoma, Metrorrhagia... ORPHA:314478
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Cronkhite-Canada Syndrome
Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fingernail m... ORPHA:2930
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Aplastic anemia, Hearing impairment, Fine hair, Premature graying of hair, Pancytopenia... OMIM:613990
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... ORPHA:895
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,... ORPHA:2575
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Abnormali... ORPHA:873
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Poems Syndrome
Visceromegaly, Polycythemia, Hypertrichosis, Ascites, Leukonychia, Splenomegaly, Plethora, Hemang... ORPHA:2905
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... ORPHA:79414
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Intrauterine ... ORPHA:2169
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Pheochromocy... ORPHA:139411
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of hair, Lymphope... OMIM:127550
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy... OMIM:124900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Pallor, Elliptocytosis OMIM:611804
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Profuse pigmented skin lesions ORPHA:280785
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... ORPHA:100
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Tiger tail banding, Mild intrauterine growth retardation, Slow-growing... OMIM:616943
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Cerebellar atrophy, Hypogonadism, Macrocytic anemia, Sensorineural hearing impairm... ORPHA:98673
X-Linked Sideroblastic Anemia
Anemia, Pallor, Splenomegaly ORPHA:75563
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ... OMIM:300752
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sparse eyebrow, Stenosis of the external auditory canal, Macrocytic anemia, Sensorineural hearing... OMIM:606164
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Neurofibromatosis Type 1
Neoplasm of the skin, Hypopigmented skin patches, Cryptorchidism, Multiple lipomas, Leukemia, Sar... ORPHA:636
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair,... ORPHA:2183
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... OMIM:268020
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension, Thrombocytopenia OMIM:189800
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Common Variable Immunodeficiency
Lymphoma, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Gastrointestinal strom... ORPHA:1572
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia ORPHA:309108
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Hyperpi... OMIM:606069
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Aplastic anemia, Persistence of hemoglobin F, Increased mean corp... OMIM:617052
Livedoid Vasculopathy
Poor wound healing, Polycythemia, Skin ulcer, Macular purpura, Pancytopenia, Cutis marmorata, Leu... ORPHA:542643
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Horizontal eyebrow, Hearing impairment, Long eyelashes, Broad eyebrow, Thr... OMIM:620475
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Transcobalamin Ii Deficiency
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc... OMIM:275350
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hirsutism, Hepatomegaly, Hyper... OMIM:612526
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Congenital Atransferrinemia
Anemia ORPHA:1195
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Malabsorption, Nai... OMIM:601675
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Vitil... ORPHA:2137
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancreatitis... OMIM:618805
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo... ORPHA:202
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Sho... OMIM:250940
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly OMIM:618852
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... ORPHA:91
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Gray Platelet Syndrome
Abnormality of thrombocytes, Bruising susceptibility, Splenomegaly, Thrombocytopenia, Myelodysplasia ORPHA:721
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Small Bowel Atresia
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... ORPHA:1201
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening... OMIM:616740
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Vertigo, Leukocytosis, Splenomegaly, Abnormal platel... ORPHA:3318
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Acatalasemia
Microcytic anemia, Vitiligo ORPHA:926
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Obesity And Hypopigmentation
Red hair OMIM:620195
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria ORPHA:2613
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Re... OMIM:193300
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Primary Erythromelalgia
Leukemia, Erythema, Abnormality of thrombocytes ORPHA:90026
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive OMIM:620357
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Granuloma, Skin ulcer, Squamous cell carcinoma, T... ORPHA:542592
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Polycythemia OMIM:613280
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova... ORPHA:3130
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Thrombocythemia 2
Thrombocytosis OMIM:601977
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... OMIM:131100
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Prematurely aged appearance, ... ORPHA:870
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Acute monocyt... OMIM:601399
Syndromic Diarrhea
Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Dry skin, Thrombocytosis, Villous atrophy, S... ORPHA:84064
Pelger-Huet Anomaly
Giant platelets, Median cleft palate, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Ne... OMIM:169400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Hb Bart'S Hydrops Fetalis
Anemia, Pallor, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Odontogenic kerato... ORPHA:314473
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Alopecia universalis, Alopecia, Pigmentary retinopathy, Diarrhea, Cholelithia... OMIM:240300
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Usher Syndrome Type 1
Iris hypopigmentation, Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing ... ORPHA:231169
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T cells, Vitiligo, Recurrent ... ORPHA:275
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Short stature, Decreased mea... OMIM:611590
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... OMIM:300869
Imerslund-Grasbeck Syndrome 2
Anemia, Megaloblastic anemia OMIM:618882
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Absent pubertal growth spurt, Sparse eyebrow, Fair hair, Fine ... OMIM:250250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... ORPHA:84090
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, ... OMIM:617872
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Hearing impairment, Cryptorchidism, Pro... ORPHA:261250
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Polyembryoma
Increased serum serotonin, Irregular menstruation, Gonadal neoplasm, Neoplasm of head and neck, A... ORPHA:180229
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Hypogonadotropic hypogonadism, Gastrointestinal dysm... ORPHA:298
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Iris hypopigmentation, Sensorineural hearin... ORPHA:231183
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa... OMIM:619013
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, High pala... OMIM:620045
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Takenouchi-Kosaki Syndrome
Low-set ears, Hypospadias, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Sparse e... OMIM:616737
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Mantle Cell Lymphoma
B-cell lymphoma, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Microcytic anemia, Cirrhosis, Cutaneous photosensitivity ORPHA:79278
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro... OMIM:614470
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Increased circulating interleukin 6 concentrat... OMIM:614034
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... OMIM:612714
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Ambiguous genitalia, male, Micropenis, P... OMIM:264600
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap... OMIM:611584
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Spontaneous hematomas, Dec... ORPHA:274
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Lymphopenia, Leukopenia, Cutis marmorata, Nail dystrophy, Follicular hyperplasia, Telan... OMIM:615934
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Hemochromatosis, Type 1
Alopecia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation... OMIM:235200
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis OMIM:604416
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Hypospadias, Conductive hearing impairment, Giant platelets, Cerebral atrophy, Cere... OMIM:611209
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrh... ORPHA:79083
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti... OMIM:615512
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... ORPHA:199299
Glycoprotein Storage Disease
Gout OMIM:232900
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... OMIM:277380
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Thrombocythemia 3
Thrombocytosis OMIM:614521
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Celiac Disease, Susceptibility To, 1
Alopecia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Postnatal g... OMIM:212750
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Dystrophic toenail, Sparse hair OMIM:614928
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... ORPHA:79402
Fumarase Deficiency
Intrahepatic cholestasis, Cutaneous leiomyoma, Polycythemia, Ascites, Pallor, Reduced subcutaneou... OMIM:606812
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Fanconi Anemia, Complementation Group G
Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly... ORPHA:309854
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Trichohepatoenteric Syndrome 1
Sparse hair, Bifid uvula, Hepatic fibrosis, Fine hair, Trichorrhexis nodosa, Cholestasis, Thrombo... OMIM:222470
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:600995
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Nephrotic syndro... OMIM:105200
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation of the sk... OMIM:602390
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity, Colitis OMIM:219095
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Whim Syndrome 1
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormal femal... OMIM:193670
Erythrokeratodermia Variabilis
Erythema, Alopecia, Neoplasm of the skin, Abnormal hair morphology, Dry skin, Generalized hirsuti... ORPHA:317
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Decreased fertility, Generalized hirsut... ORPHA:1816
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Grfoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97261
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anore... ORPHA:100079
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Ppoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97278
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer ORPHA:2069
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Erythema, Scarring alopecia of scalp ORPHA:222
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hemolytic anemia OMIM:177000
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re... OMIM:612562
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Omenn Syndrome
Alopecia, Lymphoma, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom... ORPHA:39041
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephrotic syndrome, Nephritis, Reduced delayed hypersens... OMIM:603909
Revesz Syndrome
Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macrocytic anemia, Neutropenia, Fi... OMIM:268130
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mellitus, Se... ORPHA:2348
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Alopecia, Decreased FOXP3-expressing T cell count, Villous atrophy, Ile... OMIM:304790
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Radiation Proctitis
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... ORPHA:70475
Acquired Ichthyosis
Erythema, Lymphoma, Dry skin, Neoplasm, Sarcoma, Multiple myeloma ORPHA:454
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis... ORPHA:35122
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Leishmaniasis
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Throm... ORPHA:507
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... OMIM:616959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Pallor OMIM:613561
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Bilateral sensorineural hearing impairment, Macroorchidism, Macrotia OMIM:300238
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Vitiligo, Cafe-au-lait spot OMIM:613951
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Partington Syndrome
Macroorchidism ORPHA:94083
Peripheral Cone Dystrophy
Pallor OMIM:609021
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa... OMIM:613309
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Polycystic ovaries ORPHA:275555
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Intrauterine growth r... ORPHA:79284
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Stiff-Person Syndrome
Anemia, Vitiligo OMIM:184850
Osteomesopyknosis
Infertility OMIM:166450
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Abscess, Splenic... ORPHA:400
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Mitochondrial Dna Depletion Syndrome 19
Hearing impairment, Microcytic anemia, Multifocal epileptiform discharges, Hydrocele testis, Hypo... OMIM:618972
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, High palate, Primary gonadal insufficiency, Feeding difficulties ORPHA:99329
Qazi-Markouizos Syndrome
High, narrow palate, Small nail, Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Decreased circulating T... OMIM:608104
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris... ORPHA:2235
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Volvulus, Vomiting, Malnutrition, Villous atrophy, Abnormal sma... ORPHA:95427
Peritoneal Cystic Mesothelioma
Neoplasm, Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Abdominal distention, Abdominal p... ORPHA:168816
Lig4 Syndrome
Erythema, Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Low anterior hairline, Telangiect... ORPHA:99812
48,Xxyy Syndrome
Gastroesophageal reflux, Lymphoma, Decreased testicular size, Azoospermia, Type II diabetes melli... ORPHA:10
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Wolman Disease
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Melanocytic nevus, Cryptorchidism, Oligozoospermia OMIM:314300
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Sézary Syndrome
Neoplasm of the skin, Alopecia, Lymphoma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly,... ORPHA:3162
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Thyroid carcinoma, Duodenal adenocarcinoma, Endometrial carcinoma, Pr... ORPHA:157794
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... OMIM:301310
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Granulomatous Slack Skin
Erythema, Lymphoma, Abnormal lymph node morphology, Redundant skin, Hodgkin lymphoma, Cutis laxa ORPHA:33111
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Evans Syndrome
Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Pallor, Splenomegaly, Increa... OMIM:194380
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate OMIM:600331
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angiomyolipoma,... ORPHA:276152
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Decreased circulating antibody level, Ovarian c... OMIM:158350
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Burkitt lymphoma, Increased proportion of exhausted T cells, Disseminated cutane... OMIM:618307
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... ORPHA:411696
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Spherocytosis, Type 4
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:612653
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Hypopigmentation of the skin, Azoospermia, Low posterior hairline, Ambiguous gen... ORPHA:261519
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Postnatal growth retardation, Hypocholesterolemia, Abnormal erythrocyte m... ORPHA:96180
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Polycythemia, Endolymphatic sac tumor, Pancreatic cysts, Pallor, Ne... ORPHA:892
C1Q Deficiency 2
Anemia, Facial erythema, Vasculitis in the skin OMIM:620321
Paternal Uniparental Disomy Of Chromosome X
Micropenis, Decreased testicular size, Low posterior hairline, Infertility ORPHA:261524
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E... OMIM:611881
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis, Hepatic steatosis ORPHA:79087
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis OMIM:617524
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Urticaria ORPHA:37748
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... ORPHA:97280
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Psoriasis 14, Pustular
Erythema, Furrowed tongue, Leukocytosis, Nail dystrophy, Geographic tongue, Neutrophilia, Cholang... OMIM:614204
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Lymphopenia, Vitiligo, T lymphocytopenia, Lymphadenopathy, Neutropenia, Au... OMIM:607944
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis, Cirrhosis, Fragile skin, Cutaneous photosensitivity... OMIM:176100
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... OMIM:254450
Young Syndrome
Azoospermia OMIM:279000
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruction, Gastrointes... ORPHA:67
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Diarrhea 9
Villous atrophy OMIM:618168
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Polycythemia, Facial tel... OMIM:600376
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Petechiae, Splenomegaly,... OMIM:619463
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... OMIM:614074
Vexas Syndrome
Chondritis of pinna, Thrombocytopenia, Macrocytic anemia, Sensorineural hearing impairment OMIM:301054
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow... ORPHA:163746
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Dermatitis Herpetiformis
Microcytic anemia, Erythema, Skin vesicle, Urticaria ORPHA:1656
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyp... ORPHA:247598
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Aicardi-Goutieres Syndrome 1
Erythema, Splenomegaly, Petechiae, Multiple gastric polyps, Hepatomegaly, Thrombocytopenia, Prolo... OMIM:225750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism OMIM:614171
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Absent peripheral lymph nodes in presence of infection, Nail... ORPHA:98813
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Multiple lipomas OMIM:145981
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema OMIM:212360
X-Linked Agammaglobulinemia
Alopecia, Skin ulcer, Hepatitis, Neoplasm, Abnormality of the lymphatic system, Abnormality of th... ORPHA:47
Malignant Peritoneal Mesothelioma
Ileus, Neoplasm, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168811
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Bone Marrow Failure Syndrome 5
Hypogonadism, Reticular hyperpigmentation, Nail dystrophy, Erythroid hypoplasia, Anemia, Testicul... OMIM:618165
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia, Squamous cell carcinoma, Abnormal esophagus morphology,... OMIM:226600
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Normochromic microcytic anemia, Postnatal growth retardation, Intrauterine gro... OMIM:610198
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Athyreosis
Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Macroglossia, Feeding diffi... ORPHA:95713
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism, Hypertriglyceridemia ORPHA:436182
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Vasculitis, Gastrointe... ORPHA:91139
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Hyperthreoninemia, Increased serum bile acid concentration, Cirrhosis, Elevat... OMIM:605814
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Lead Poisoning
Vomiting, Abdominal distention, Decreased male libido, Imbalanced hemoglobin synthesis, Abnormali... ORPHA:330015
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Highly arched eyebrow, Insulin-resistant diabetes mell... ORPHA:293967
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal... OMIM:226990
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Cold Agglutinin Disease
Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Harderoporphyria
Increased fecal harderoporphyrin, Hemolytic anemia, Splenomegaly, Reticulocytosis, Hepatomegaly, ... OMIM:618892
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair ORPHA:1573
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... OMIM:258360
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Chronic dia... ORPHA:2221
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
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... OMIM:619220
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Paronychia, Hyposegmentation of neutrophil nuclei, Recurrent absc... OMIM:260570
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T... OMIM:616738
Copper Deficiency, Familial Benign
Anemia, Early balding, Curly hair OMIM:121270
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hypopigmented skin patches,... ORPHA:381
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Nausea and vomiting, Met... ORPHA:370348
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... ORPHA:97685
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomeg... OMIM:300853
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:280679
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Sanjad-Sakati Syndrome
Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism, Hypoparathyroidism, Hypopl... ORPHA:2323
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal ... ORPHA:125
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Neoplasm of the liver, Abdominal distention, Abdominal pain, Diabetes mellitus ORPHA:90003
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin... ORPHA:158029
Thrombocytopenia 10
Decreased mean platelet volume, Petechiae, Bruising susceptibility, Thrombocytopenia OMIM:620484
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Intrauterine gr... OMIM:619048
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Vertigo, Abnormal erythrocyte morphology, Thrombocytosis, Autoimmune ... ORPHA:324636
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Immunodeficiency 23
Erythema, Lymphopenia, Abscess, Hodgkin lymphoma, Eosinophilia, Neutropenia, Vasculitis in the sk... OMIM:615816
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
Addison Disease
Adrenal calcification, Hypoparathyroidism, Premature ovarian insufficiency, Thymoma, Androgen ins... ORPHA:85138
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy ORPHA:100024
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph... OMIM:617718
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Uplifted earlobe, Synophrys OMIM:300143
Snakebite Envenomation
Erythema, Neuromuscular dysphagia, Angioedema, Pseudobulbar paralysis, Ecchymosis, Thrombocytopenia ORPHA:449285
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Neoplasm of the heart, A... ORPHA:2241
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Vitiligo, Neutropenia ORPHA:51636
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo, Low anterior hairline ORPHA:480898
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Co... ORPHA:32960
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Igg4-Related Aortitis
Abdominal pain, Hypereosinophilia, Intestinal obstruction ORPHA:449400
Acute Adrenal Insufficiency
Normocytic anemia, Diarrhea, Vitiligo, Nausea and vomiting, Sparse axillary hair, Hyperpigmentati... ORPHA:95409
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Polysplenia, Cryptorchidism, Macrocytic anemia, Posteriorly rotated ears, Synophrys OMIM:614294
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hyperammonemia, Failure to thrive, Hepatomegaly ORPHA:28
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... OMIM:612840
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation of the skin, Neutropeni... OMIM:604250
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Atrial flutter, Paraproteinemia, Hypertrophic cardiomy... ORPHA:439232
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Nephrobl... ORPHA:116
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Low-set, posteriorly rotated ears, Microcytic... ORPHA:98791
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Prolidase Deficiency
Erythema, Skin ulcer, Abnormal fingernail morphology, Dry skin, White forelock, Splenomegaly, Hir... ORPHA:742
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... ORPHA:95619
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Enterocolitis, Decreased proportion of class-switched memory B cells, Ulcerative colitis OMIM:614878
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment ORPHA:3239
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... ORPHA:26792
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia OMIM:273900
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix OMIM:618955
Adult-Onset Still Disease
Erythema, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Gener... ORPHA:829
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia OMIM:246400
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Hepatomegaly, Oligomenorr... ORPHA:79240
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Localized Scleroderma
Gastroesophageal reflux, Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, E... ORPHA:90289
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abnormality of the uterus, Hypertrichosis, Pancreati... ORPHA:1655
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Widow's peak, Neutrophilia OMIM:266265
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias OMIM:605231
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Increased muscle glycogen content, Hyperuricemia ORPHA:371
Familial Mediterranean Fever
Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L... ORPHA:342
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio... OMIM:619858
Dermatomyositis
Alopecia, Abnormal eosinophil morphology, Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestin... ORPHA:221
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Hyposerinemia, Failure to thrive, Intrauterine growth retardation, Megaloblastic ... ORPHA:79351
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Spotty... ORPHA:167
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... ORPHA:3226
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Gastrointestinal carcinoma, Xerostomia, Hematochezia, Nail ... OMIM:175500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Proteinuria, Anemia, Nephrotic syndrome, Hypertension ORPHA:1192
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Cleft palate, Bicornuate uterus OMIM:601076
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Pearson Marrow-Pancreas Syndrome
Erythema, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villous atrophy,... OMIM:557000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Phenylketonuria
Hypopigmentation of the skin ORPHA:716
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Intrauterine ... ORPHA:3322
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region ORPHA:79411
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Dec... ORPHA:226313
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum OMIM:608068
Wolfram Syndrome 2
Peptic ulcer OMIM:604928
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Hypopigmented skin patches, Cryptorchidism, Lactose intolerance, Hemangioma, Protube... ORPHA:457485
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Elevated circulating C-reactive protein co... OMIM:619750
Spherocytosis, Type 1
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:182900
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... ORPHA:101096
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Para... ORPHA:99880
Telangiectasia, Hereditary Hemorrhagic, Type 1
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Telangiectasia, Cirrhosis, Gastroin... OMIM:187300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Sparse eyebrow, Highly arched eyebrow, Cerebellar atrophy, Hearing impairment, Low... ORPHA:487796
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Thrombocytopenia, Hypertriglyceridemia, ... ORPHA:31150
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anem... ORPHA:93552
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating arginine concentration, Abnormal circulating threonine co... ORPHA:79096
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death OMIM:615918
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Nausea and vomiting, Intestin... ORPHA:183
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Melas
Pigmentary retinopathy, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Hypertrichosis, Vitili... ORPHA:550
Spondyloenchondrodysplasia
Granuloma, Hepatitis, Vitiligo, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:1855
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuo... OMIM:269920
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Adenohypophysitis
Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce... ORPHA:95512
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Parathyroid Carcinoma
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinom... ORPHA:143
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dystrophic toenail, Telangiectasia, Dystrophic fingernails, Recurrent loss of toenails ... ORPHA:158673
Peutz-Jeghers Syndrome
Uterine neoplasm, Ovarian cyst, Iron deficiency anemia, Precocious puberty with Sertoli cell tumo... OMIM:175200
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Hydroa Vacciniforme
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme ORPHA:330058
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... OMIM:619767
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Uterine leiomyoma, Stomach cancer, Juvenile gastrointestin... ORPHA:480536
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Fanconi Anemia, Complementation Group A
Hearing impairment, Male infertility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Ne... OMIM:227650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Kikuchi-Fujimoto Disease
Erythema, Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlarge... ORPHA:50918
Panniculitis-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Vasculitis in the skin ORPHA:90159
Dyskeratosis Congenita
White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Sparse hair, Esophageal stenosis,... ORPHA:1775
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Ring Chromosome 21 Syndrome
Azoospermia, Amenorrhea, Multiple cafe-au-lait spots, Infertility, Diabetes insipidus ORPHA:1445
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... OMIM:618419
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... ORPHA:2745
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:618278
Cholesteryl Ester Storage Disease
Splenomegaly, Esophageal varix ORPHA:75234
Schöpf-Schulz-Passarge Syndrome
Alopecia, Facial telangiectasia, Squamous cell carcinoma, Ectodermal dysplasia, Aplasia/Hypoplasi... ORPHA:50944
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Intrauterine growth retardation, Abnormality o... OMIM:618156
Ogden Syndrome
Narrow palate, Sparse eyebrow, Polycythemia, Fine hair, Facial wrinkling, Long eyelashes, Macrove... OMIM:300855
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abnormality of the gastrointestinal tract, Thrombocy... ORPHA:160
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Hypoalbuminemia, Recu... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Macrotia, Hypothyroidism, Thrombocytosis, Premature ovarian insufficiency, Hy... OMIM:212065
Rothmund-Thomson Syndrome Type 2
Erythema, Neoplasm of the skin, Aplastic anemia, Alopecia totalis, Melanoma, Neutropenia, Basal c... ORPHA:221016
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper... ORPHA:508
Fragile X Syndrome
Cerebral cortical atrophy, Otitis media, Protruding ear, Macroorchidism, Chronic otitis media, Ma... ORPHA:908
Meckel Syndrome, Type 8
Ambiguous genitalia, Cleft palate, Abdominal distention OMIM:613885
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail ORPHA:530838
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Congestive heart failure ORPHA:66631
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Splenomegaly, Portal hypertension, Abnormality ... ORPHA:1414
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic s... OMIM:615980
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Orthostatic Hypotension 2
Anemia OMIM:618182
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma ORPHA:86893
Prolidase Deficiency
Skin ulcer, Facial hirsutism, Splenomegaly, Petechiae, Low posterior hairline, Diffuse telangiect... OMIM:170100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, Absence of lymph node germinal center, B lymphocytopenia ORPHA:277
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angioedema, Telan... ORPHA:79455
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid leukemia, Leukemia OMIM:614743
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ... OMIM:618541
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, D... OMIM:606367
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Hirsutism, A... OMIM:617475
H Syndrome
Alopecia, Hearing impairment, Histiocytosis, Hypertrichosis, Hypogonadism, Decreased testicular s... ORPHA:168569
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin... OMIM:257200
Familial Focal Epilepsy With Variable Foci
Pallor, Polymicrogyria ORPHA:98820
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Li-Fraumeni Syndrome
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... ORPHA:524
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypocholesterolemia, Neonatal death, Brittle hair, Hepatomegaly OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Alopecia totalis, Intrauterine growth retardation, Elevated circulating creatine ... OMIM:618775
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Splenomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Nail dystrophy, Thrombocytopenia, Testicular atrophy, Reticulated skin pigmentation OMIM:613987
Atrophoderma Vermiculata
Erythema, Neurofibroma ORPHA:79100
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Jejunoileal ulceration, Intes... ORPHA:436252
Cogan Syndrome
Abnormal vestibular function, Vertigo, Leukocytosis, Sensorineural hearing impairment, Tinnitus, ... ORPHA:1467
Panhypophysitis
Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce... ORPHA:95513
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Splenom... OMIM:235255
Congenital Disorder Of Glycosylation, Type Iq
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrichosis, Micro... OMIM:612379
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev... ORPHA:69126
Hemifacial Atrophy, Progressive
Patchy alopecia, Horner syndrome, Poliosis, Microtia OMIM:141300
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... OMIM:610984
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Dry skin, Alopecia of scalp, Splenomegaly, Hepatomegaly, Perianal erythema, Pa... OMIM:201100
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Decreased proportion of CD8-... OMIM:301000
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Pressure-Induced Localized Lipoatrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Peeling Skin Syndrome 2
Erythema, Abnormality of the nail, Scaling skin OMIM:609796
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flushing ORPHA:79457
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Hyperuricemia OMIM:300322
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Microangiopathic hemolytic anemia, Hypertrichosis, Capillary hemangioma, Le... ORPHA:2330
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, Esophageal stenosis OMIM:616553
48,Xxxy Syndrome
Small scrotum, Gastroesophageal reflux, Hypogonadism, Decreased testicular size, Azoospermia, Typ... ORPHA:96263
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Centrifugal Lipodystrophy
Erythema, Alopecia, Lymphadenitis, Reduced subcutaneous adipose tissue, Lack of facial subcutaneo... ORPHA:90156
Bullous Impetigo
Erythema, Abnormality of the lymphatic system ORPHA:36237
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:608776
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Neutropenia, Autoimmune thrombocytopenia, Alopecia, Malabsorption,... ORPHA:37042
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Nijmegen Breakage Syndrome
Progressive vitiligo, Diarrhea, Retinal pigment epithelial mottling, Recurrent infection of the g... OMIM:251260
Incontinentia Pigmenti
Erythema, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplas... OMIM:308300
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Progressive sensorineural hearing impairment, Insulin-resist... ORPHA:2959
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Dry skin, Nail dyst... ORPHA:2890
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu... OMIM:162000
Mycosis Fungoides
Erythema, Lymphoma, Lymphadenopathy, Neoplasm of the skin OMIM:254400
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Potocki-Lupski Syndrome
Short stature, Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Ulerythema Ophryogenesis
Dry skin, Facial erythema, Sparse lateral eyebrow ORPHA:3406
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Splenomegaly, Ty... OMIM:269700
Erythema Of Acral Regions
Erythema OMIM:227000
Darier Disease
Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H... ORPHA:218
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Nar... ORPHA:207
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Hepatomegaly, Jaundice, Feeding difficulties ORPHA:79238
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Thrombocytopenia 1
Decreased mean platelet volume, Bruising susceptibility, Petechiae, Congenital thrombocytopenia, ... OMIM:313900
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Highly arched eyebrow, Hypoplasia of the cochlea, Profound sensor... OMIM:620469
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm... ORPHA:98907
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism, Macrotia, EEG with generalized slow activity OMIM:300055
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash... OMIM:129500
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Keratolytic Winter Erythema
Erythema OMIM:148370
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop... OMIM:618935
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Primary Effusion Lymphoma
Abdominal pain, B-cell lymphoma, Abdominal distention ORPHA:48686
Immunodeficiency 115 With Autoinflammation
Verrucae, Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anem... OMIM:620632
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Hearing impairment, Goiter OMIM:617577
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:280365
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Spotty hyperpigmentation, Hypertrichosis, Decreased response t... ORPHA:324737
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Porphyria Variegata
Hypopigmentation of the skin, Hypertrichosis, Ileus, Nausea, Hyperpigmentation of the skin, Const... ORPHA:79473
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem... ORPHA:88
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic ane... OMIM:277400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Chronic diarrhea, Intestinal obstruction, Impaired lymp... OMIM:600802
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... OMIM:619172
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Alopecia, Gastroesophageal reflux, Oral leukoplakia, Squamous cell carcinom... OMIM:620040
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Candidiasis, Familial, 1
Alopecia OMIM:114580
49,Xxxxy Syndrome
Small scrotum, Gastroesophageal reflux, Hypogonadism, Decreased testicular size, Azoospermia, Typ... ORPHA:96264
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
L-Ferritin Deficiency
Alopecia OMIM:615604
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Primary Peritoneal Carcinoma
Neoplasm, Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Uterine neoplasm, Vaginal neoplasm, Abnormal gastrointestinal tract morp... ORPHA:1018
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Anemia ORPHA:514
Erythema Nodosum, Familial
Erythema OMIM:132990
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... OMIM:619377
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Pol... OMIM:608594
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Petechiae, Mu... ORPHA:903
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Vipoma
Erythema, Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortic... ORPHA:97282
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Currarino Syndrome
Anal stenosis, Presacral teratoma, Septate vagina, Chronic constipation, Anal fistula, Perianal a... OMIM:176450
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation OMIM:261600
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegal... OMIM:620376
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... ORPHA:2968
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Alopecia, Smooth tongue, Generalized abnormality of skin, Squamous cell carcinoma of th... ORPHA:79396
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Tracheoesophageal fistula, Pancreatitis, Throm... ORPHA:537
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Livedo, Sparse lateral eyebrow, Ridged nail, Facial telangiectasia, Actin... OMIM:614564
Mixed Connective Tissue Disease
Alopecia, Mediastinal lymphadenopathy, Xerostomia, Gastroesophageal reflux, Gastrointestinal hemo... ORPHA:809
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:600901
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Pr... OMIM:603585
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hailey-Hailey Disease
Erythema OMIM:169600
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Erythema Palmare Hereditarium
Erythema OMIM:133000
Annular Erythema
Erythema OMIM:106500
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Spherocyt... ORPHA:251066
Acute Interstitial Pneumonia
Reduced hematocrit, Cyanosis, Lymphadenopathy ORPHA:79126
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Hydatidiform Mole
Anemia, Enlarged uterus, Menometrorrhagia ORPHA:99927
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail, Small for gestational age ORPHA:621
Coproporphyria, Hereditary
Vomiting, Diarrhea, Splenomegaly, Jaundice, Constipation, Hepatomegaly, Abdominal pain OMIM:121300
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation OMIM:225050
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, Axillary freckling, Hypopigmentation of the skin, T-cell lymphoma, Leukemia... OMIM:276300
White-Sutton Syndrome
Gastroesophageal reflux, Vitiligo, Chronic constipation, Feeding difficulties in infancy, Feeding... ORPHA:468678
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Multiple lipomas OMIM:600740
Lujan-Fryns Syndrome
Low-set ears, Macroorchidism, Protruding ear ORPHA:776
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer ORPHA:2337
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Hearing impairment, White hair, Ocular albinism, Gener... ORPHA:2720
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Perioral erythema, Villous atrophy, Duodenitis, Perianal erythema, Onychogryposis OMIM:614328
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema OMIM:617526
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Acute pa... ORPHA:79086
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hepatic steatosis OMIM:613877
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Neutropenia, Focal segmental glomeru... ORPHA:1830
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Nausea, Abnormal erythrocyte enzyme concentration or ... ORPHA:100924
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Mogs-Cdg
Optic atrophy, Alopecia, Fair hair, External genital hypoplasia, Hepatosplenomegaly, Long eyelash... ORPHA:79330
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Hypermelanotic macule OMIM:112200
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Alopecia totalis, Functional abnorma... ORPHA:221008
Myotonic Dystrophy 2
Decreased circulating IgG level, Hypogonadism, Type II diabetes mellitus, Elevated circulating fo... OMIM:602668
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait spots OMIM:609054
Sympathetic Ophthalmia
Alopecia, Vitiligo, Poliosis ORPHA:79098
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Alopecia, Neoplasm of the skin, Skin ulcer, Abnormal fingernail morphology, Melanoma, S... ORPHA:659
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Lympho... OMIM:617575
Sjögren-Larsson Syndrome
Erythema, Dry skin, Urticaria ORPHA:816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... OMIM:602450
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Optic Atrophy 1
Pallor OMIM:165500
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Lymphoma, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, In... ORPHA:397596
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Xeroderma Pigmentosum, Complementation Group F
Erythema, Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, S... OMIM:278760
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Hyperpigmentation of the skin, Lymphadenopathy, ... OMIM:609981
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Sheehan Syndrome
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Spars... ORPHA:91355
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis, Feeding difficulties, Synophrys OMIM:618154
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Failure to elevate ammonia on ischemic exercise, Elevated circulating ... OMIM:232600
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... ORPHA:93126
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Duodenal adenocarcinoma, Duodenal po... OMIM:175100
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Aspergillosis
Increased circulating IgE level, Eosinophilia, Abnormal esophagus morphology, Hematological neopl... ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, White... OMIM:609136
Adams-Oliver Syndrome
Alopecia, Gastrointestinal hemorrhage, Hypoplastic fingernail, Ascites, Leukopenia, Cutis marmora... ORPHA:974
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Dry skin, Portal hypertension, Splenomeg... OMIM:607626
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Type I diabetes mellitus, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepat... OMIM:615688
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Protein... ORPHA:85445
Pituitary Apoplexy
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp... ORPHA:95613
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Hyperpigmentation of the skin, Adrenal hypoplasia, Thrombocyt... OMIM:619151
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Cerebral atrophy, Leukocytosis, Perianal abscess, Hypsar... OMIM:618213
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... OMIM:615122
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Elevated circulati... OMIM:607426
Urachal Cyst
Erythema, Neoplasm, Leukocytosis, Abscess, Peritonitis, Abdominal mass ORPHA:488
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Elevated circulating palmitoleylcarnitine concentration, Failure to thriv... ORPHA:79282
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Erythema, Splenomegaly ORPHA:33577
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyp... ORPHA:210548
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatitis, Lymphopeni... ORPHA:289390
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangi... OMIM:256300
Mal De Meleda
Perioral erythema, Fragile nails OMIM:248300
Pachydermoperiostosis
Neoplasm of the lung, Peptic ulcer, Gastrointestinal hemorrhage, Neoplasm of the skin ORPHA:2796
Sydenham Chorea
Erythema ORPHA:306731
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased... ORPHA:449395
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Arrhythmia, Myoglobinuria, Hemolytic anemia, Elevated creatine kinase after ... ORPHA:57
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neu... ORPHA:36426
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Mastocytosis, Generalized hyperpigmentation, Abnormality of skin pig... ORPHA:2135
Punctate Palmoplantar Keratoderma Type 1
Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophageal neop... ORPHA:79501
Porphyria, Acute Intermittent
Diarrhea, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de... OMIM:176000
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Oslam Syndrome
Anemia OMIM:165660
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Shigellosis
Hepatic failure, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Bloody diarrhea... ORPHA:810
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Hypertrichosis, Splenomegaly, Cutaneous photosensitivity, Loss of eyela... OMIM:263700
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Elevated circulating creati... ORPHA:228302
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Irregular menstruation OMIM:615238
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Villous atrophy, Malabsorption, Hypogona... OMIM:600955
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Angioedema, Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Galactosemia Iii
Hepatomegaly, Jaundice, Vomiting, Splenomegaly OMIM:230350
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Feeding difficulties, Cryptorchidism, Decreased fertility in... ORPHA:79239
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Reduced haptoglobin level, Proteinuria, Neutrope... OMIM:301110
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Premature graying of hair, Pancyt... OMIM:613989
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Lichen Planopilaris
Alopecia, Skin ulcer, Hepatitis, Neoplasm of the oral cavity, Abnormal fingernail morphology, Abn... ORPHA:525
Keratolytic Winter Erythema
Erythema ORPHA:50943
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Ring Chromosome 22 Syndrome
Toenail dysplasia, Neurofibroma, Azoospermia, Thick eyebrow, Protruding tongue ORPHA:1446
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transi... OMIM:242900
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Osteoarthriti... ORPHA:1416
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Urticaria OMIM:611762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... ORPHA:368
Familial Thrombocytosis
Chronic myelogenous leukemia, Vertigo, Splenomegaly, Acute myeloid leukemia, Thrombocytosis ORPHA:71493
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Abnormal toe... ORPHA:2908
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r... ORPHA:440713
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphoma, Lymphocytic infiltration of th... ORPHA:436159
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Bilateral cleft palate, Sparse eyelashes, High ... OMIM:618874
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, ... OMIM:215250
Pituitary Gigantism
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth... ORPHA:99725
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:618347
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Nephrotic syndrome, Postural h... ORPHA:85443
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Alopecia, Sparse hair OMIM:275400
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma OMIM:618398
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemi... OMIM:616084
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Hematuria, Proteinuri... ORPHA:91138
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disi... OMIM:174000
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Thic... OMIM:613489
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Palmar telangiectasia, Sparse body hair, Ascites, Cutis marmorata, Abnormality of the l... ORPHA:69735
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Hermansky-Pudlak Syndrome 4
Albinism, Absent platelet dense granules, Ocular albinism OMIM:614073
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochrom... OMIM:619423
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Iron deficiency anemia, Cirrhosi... OMIM:269200
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... ORPHA:247585
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Odontoonychodermal Dysplasia
Erythema, Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, ... OMIM:257980
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Fanconi Anemia, Complementation Group C
Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Anemia, Reticulocytopenia, Anemic ... OMIM:227645
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617253
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong... OMIM:602032
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro... ORPHA:79312
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, In... ORPHA:90790
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Proteinuria, Schis... OMIM:274150
Gardner Syndrome
Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, Desmoid tumors... ORPHA:79665
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Hepatic steatosis OMIM:615996
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Pulmonary ... OMIM:613845
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Lymphopenia, Nail dystrophy, Thrombocytopenia, Anemia OMIM:620365
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Abnormality of the gastrointestin... ORPHA:2070
Familial Tumoral Calcinosis
Hepatomegaly, Erythema, Splenomegaly, Neoplasm of the skin ORPHA:53715
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nephropathy, Gastrointestinal hemorrhage, Pneumonia, Cardiomyopathy, Punctate ... ORPHA:247691
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix OMIM:616589
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Bruising susceptibility, Splenomegaly, Petechiae, Ec... ORPHA:540
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Mal De Meleda
Erythema ORPHA:87503
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Urticaria OMIM:614979
Shwachman-Diamond Syndrome 2
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... OMIM:617941
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Sensorineural hearing impairment OMIM:619518
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Cutaneous abscess, Dry skin, Eosinophilia, Sterile abscess, High palate OMIM:618282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Polycystic ovaries, Hepatomegaly, Hypothyroidism, Delayed pu... ORPHA:79259
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Hepatic steatosis, Failure to thrive, Decreased liver function ORPHA:70472
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in... OMIM:619418
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Gapo Syndrome
Alopecia, Sparse eyebrow, Hypopigmented skin patches, Umbilical hernia, Hypogonadism, Dysmenorrhe... ORPHA:2067
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia OMIM:612073
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... ORPHA:288
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Hearing impairment, Conductive hearing impairment, P... ORPHA:244
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Hypsarrhythmia, EEG abnormality, Thrombocytosis, Anemia ORPHA:20
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... OMIM:260400
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Generalized hirsutism, Cirrhosis, Hypertriglyceridemia, Hepatomegaly ORPHA:363400
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Acute leukemia, Testicular seminoma ORPHA:281090
Diamond-Blackfan Anemia 11
Short stature, Neutropenia, Anemia of inadequate production OMIM:614900
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Acute pancreatitis, Recurrent urinary tr... OMIM:619487
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Hearing impairment, Cryptorchidism, Abn... ORPHA:90321
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Prostatitis, Granulomat... ORPHA:900
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Increased i... OMIM:255125
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... OMIM:256550
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Fetal Cytomegalovirus Syndrome
Hepatitis, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Congenital Disorder Of Glycosylation, Type Ii
Low-set ears, Sensorineural hearing impairment, Hypothyroidism, Hypsarrhythmia, Iron deficiency a... OMIM:607906
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Autoimmune Polyendocrinopathy Type 2
Hypogonadism, Alopecia, Hypopigmented skin patches ORPHA:3143
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega... ORPHA:549
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Cystic Fibrosis
Diarrhea, Meconium ileus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Steatorrh... OMIM:219700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Meckel diverticulum, Bilateral cryptorchidism, Trichorrhexis nodosa, Lympho... OMIM:616395
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Irregular hyperpigmentation, Anal fissure, Esophageal stricture, Ankylog... ORPHA:89842
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic micr... ORPHA:3240
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating aspartate ... OMIM:212140
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma OMIM:273300
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Splenomegaly OMIM:620010
Incontinentia Pigmenti
Erythema, Alopecia, Ridged fingernail, Verrucae, Dystrophic toenail, Skin ulcer, Supernumerary ni... ORPHA:464
Acrodermatitis Enteropathica
Erythema, Alopecia, Ridged fingernail, Skin ulcer, Generalized abnormality of skin, Abnormal eyeb... ORPHA:37
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ... OMIM:612843
Kearns-Sayre Syndrome
Pigmentary retinopathy, Sideroblastic anemia, Primary adrenal insufficiency, Sensorineural hearin... OMIM:530000
Hypocomplementemic Urticarial Vasculitis
Uveitis, Renal insufficiency, Splenomegaly, Episcleritis, Skin rash, Hematuria, Proteinuria, Glom... ORPHA:36412
Cinca Syndrome
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A... ORPHA:1451
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hearing impairment, Abnormality of skin pigmentation ORPHA:457260
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Bil... ORPHA:79301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Bloom Syndrome
Hypopigmentation of the skin, Lymphoma, Hypertrichosis, Azoospermia, Type II diabetes mellitus, C... OMIM:210900
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule OMIM:618373
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Fraser Syndrome 2
Intestinal malrotation, Low anterior hairline, Hypoplasia of the thymus, Ambiguous genitalia, Rec... OMIM:617666
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibo... OMIM:614576
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Lymphoma, Neoplasm, Splenomegaly, Follicular hyperplasia, Lymphadenopathy,... OMIM:240500
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Leukocytosis, Nausea, An... ORPHA:51890
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Congenital hypothyroidism, Cryptorchidism, Blue irides, Red hair, Hypospadias, Diabete... OMIM:614613
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in infancy, Cachexia, Weight ... ORPHA:275761
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Premature graying of hair, Malabsorption OMIM:277175
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Freckling ORPHA:1547
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, P... OMIM:301074
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal pain ORPHA:42642
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Multiple Endocrine Neoplasia Type 2
Diarrhea, Abnormal tongue morphology, Cervical neoplasm, Neoplasm of the skeletal system, Parathy... ORPHA:653
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Fanconi Anemia
Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Cryptorchidism, High palate, Anal at... ORPHA:84
Acrocephalopolydactyly
Hepatosplenomegaly, Protuberant abdomen ORPHA:221054
Mucopolysaccharidosis, Type Iiib
Diarrhea, Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Synophrys OMIM:252920
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Ileus, Splenomegaly, Hirsutism, Constipation, Dysphagia, Feeding difficulties, ... OMIM:613327
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation ORPHA:52503
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hyperammonemia... ORPHA:42
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Iron deficiency anemia, Growth delay, Hypocalcemia ORPHA:89937
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Trisomy 20P
Highly arched eyebrow, Coarse hair, Low-set, posteriorly rotated ears, Thick eyebrow, Abnormal an... ORPHA:261318
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Rec... OMIM:147060
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Fluctuating splenomeg... OMIM:610377
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Johanson-Blizzard Syndrome
Alopecia, Anteriorly placed anus, Exocrine pancreatic insufficiency, Abnormal hair pattern, Anemi... ORPHA:2315
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, He... OMIM:618495
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Noonan Syndrome 7
Lentigo maligna melanoma, Abnormal esophagus morphology, Dysphagia, Impaired oropharyngeal swallo... OMIM:613706
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge... ORPHA:1867
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:276621
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyruva... OMIM:619147
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Diffus... ORPHA:436271
Nicolaides-Baraitser Syndrome
High, narrow palate, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Excessive ... ORPHA:3051
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Spontaneous Periodic Hypothermia
Hypothermia, Skin rash ORPHA:29822
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Intrauterine growth retardation, Reduced C-peptide level, Small for gest... OMIM:606176
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... ORPHA:300373
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Acute kidney in... ORPHA:447
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Thyroid Hypoplasia
Hypothyroidism, Constipation, Abdominal distention, Macroglossia, Thyroid hypoplasia ORPHA:95720
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr... OMIM:615381
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Barth Syndrome
Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Cyclic neutropenia,... OMIM:302060
Necrotizing Enterocolitis
Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Leukocytosis, Peritonitis, Abd... ORPHA:391673
Hamamy Syndrome
Low-set ears, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Microcytic anemia, Abno... OMIM:611174
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Follicular Lymphoma
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy ORPHA:545
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive ORPHA:300536
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Hematuria, Increased ... ORPHA:48435
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platelet dense gra... OMIM:608233
Sialuria
Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Prot... OMIM:269921
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t... OMIM:615862
Irida Syndrome
Pallor ORPHA:209981
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Sparse eyebrow, Abnormality of the Leydig cells, Cupped ear, Asymmetry of the ears,... ORPHA:3063
Brucellosis
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytosis, Orchitis, Lung ... ORPHA:1304
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:612933
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Pancytopenia, Sparse eyelashes, Hodgkin lymphoma, Acute myeloid leukem... OMIM:305000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Sepsis In Premature Infants
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro... OMIM:614929
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... ORPHA:85410
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... OMIM:614527
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Nasogastric tube feeding in infancy,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Nasogastric tube feeding in infancy,... ORPHA:363958
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, High palate, Ileus, Synophrys OMIM:620156
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair ORPHA:3363
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Irregular hyperpigmentation, Recurrent ... ORPHA:47612
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Cutaneous photosensitivity... ORPHA:398124
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Esophageal stricture OMIM:616029
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Nail dystrophy, Abnormality of skin pigmentation OMIM:613988
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Dry skin, Nail dystrophy, Sparse eyelashes, Dystrophic fingernails, Scarring alop... OMIM:308800
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom... ORPHA:201
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Cleft palate OMIM:620210
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... OMIM:615468
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Anorexia, Episodic abdominal pain, ... ORPHA:100085
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Recurrent infections, Neutropenia OMIM:617056
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Chronic diarrhea, Splenomegaly, Lymphadenopathy OMIM:607271
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangi... OMIM:606003
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Diffuse Alveolar Hemorrhage
Leukocytosis, Pulmonary venous hypertension, Hematuria, Proteinuria, Thrombocytopenia, Anemia ORPHA:90060
Duodenal Atresia
Duodenal atresia OMIM:223400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir... OMIM:300755
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Overfolded helix, Macroorchidism, Macrotia ORPHA:324410
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Gout, R... OMIM:232800
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails OMIM:615821
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Smal... ORPHA:79324
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Leopard Syndrome 1
Low-set ears, Multiple lentigines, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Sensor... OMIM:151100
Glycogen Storage Disease Iv
Hepatosplenomegaly, Esophageal varix OMIM:232500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep... ORPHA:699
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Elevated circ... OMIM:620300
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:290
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Chronic Granulomatous Disease
Mediastinal lymphadenopathy, Skin ulcer, Liver abscess, Splenomegaly, Tracheoesophageal fistula, ... ORPHA:379
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Horizontal eyebrow, Generalized abnormality of skin, Anal fissure, Chronic monilial nai... ORPHA:294023
Cerebral Creatine Deficiency Syndrome 1
Vomiting, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Constipation OMIM:300352
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Abnormality of the autonomic nervous system, Me... OMIM:611376
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Lymphopenia, Intrauterine growth retardation, Decreased CD4:CD8 rat... OMIM:619573
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro... OMIM:611126
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Dysphagia OMIM:613559
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis ORPHA:134
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Mucopolysaccharidosis, Type Iiia
Diarrhea, Coarse hair, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys OMIM:252900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Leukocytosis, Hyp... OMIM:619321
Galactosemia I
Aminoaciduria, Galactosuria, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activi... OMIM:230400
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Anonychia, Abdominal distention, Cleft palate ORPHA:2604
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Polyarteritis Nodosa
Erythema, Cutis marmorata, Abnormality of the gastrointestinal tract, Skin ulcer ORPHA:767
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, D... OMIM:300514
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia ORPHA:79242
Retinitis Pigmentosa 51
Pallor OMIM:613464
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M... ORPHA:99845
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:102700
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:145600
Bone Marrow Failure Syndrome 4
Anemia, Dry skin, Leukopenia, Thrombocytopenia OMIM:618116
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Familial Cold Urticaria
Erythema, Urticaria ORPHA:47045
Hemophagocytic Syndrome Associated With An Infection
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... ORPHA:158048
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma OMIM:230800
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Cystic Fibrosis
Gastroesophageal reflux, Absent vas deferens, Exocrine pancreatic insufficiency, Malabsorption, R... ORPHA:586
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Adrenomyodystrophy
Short stature, Hepatic steatosis, Generalized hyperpigmentation, Failure to thrive ORPHA:977
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Xanthe... ORPHA:412
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Familial Hypocalciuric Hypercalcemia
Lipoma, Peptic ulcer ORPHA:405
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre... OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni... ORPHA:35078
Mucopolysaccharidosis, Type Iiic
Coarse hair, Diarrhea, Hypertrichosis, Splenomegaly, Hirsutism, Hepatomegaly, Dysphagia, Synophrys OMIM:252930
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Inflammation of the large intestine, Cycli... OMIM:232240
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic il... OMIM:620565
Spondylocostal Dysostosis 1, Autosomal Recessive
Protuberant abdomen, Abdominal distention OMIM:277300
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Free Sialic Acid Storage Disease
Iris hypopigmentation, Ascites, Splenomegaly, Abnormality of skin pigmentation, Hepatomegaly ORPHA:834
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Lymphoma... ORPHA:33226
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero... OMIM:618885
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Developmental Delay, Hypotonia, And Impaired Language
Gastroesophageal reflux, Cryptorchidism, Constipation, Neutropenia, Feeding difficulties OMIM:620012
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Coffin-Siris Syndrome 11
Bifid uvula, High palate, Cleft soft palate, Esophageal atresia OMIM:618779
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Hypothalamic hamartoma, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Hermansky-Pudlak Syndrome 10
Ocular albinism, Splenomegaly, Hepatomegaly, Neutropenia, Albinism, Feeding difficulties OMIM:617050
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:119
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration ORPHA:2364
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Pallor, N... OMIM:609053
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hepatomegaly OMIM:615704
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Esophageal atresia, Anteriorly placed anus OMIM:615272
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... ORPHA:465508
Complex Regional Pain Syndrome
Erythema, Slow-growing nails, Abnormality of hair growth, Dry skin ORPHA:83452
Riboflavin Deficiency
Hypothermia OMIM:615026
Idiopathic Congenital Hypothyroidism
Hypothermia, Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure ORPHA:95717
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microphallus, Decreased response to growth hormone stimulation tes... OMIM:603467
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Erythema, Abnormality of the nail, Scaling skin OMIM:607602
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Small nail, Abnormal hair morphology, Thin nail OMIM:242100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Failure to thrive, Decreased liver function, Hepatomegaly, Increased intr... OMIM:220110
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:881
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99413
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus, Abdominal distention, An... OMIM:271520
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:29072
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Adams-Oliver Syndrome 5
Cavernous hemangioma, Hypersplenism, Splenomegaly, Esophageal varix OMIM:616028
Cholestasis-Lymphedema Syndrome
Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Hematuria, Protein... OMIM:192315
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Bruising susceptibility, Ascites, Hepatosplenomegaly, Pancyto... ORPHA:77259
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potential... OMIM:216400
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Chronic Graft Versus Host Disease
Erythema, Alopecia, Gastroesophageal reflux, Poor wound healing, Skin ulcer, Xerostomia, Ascites,... ORPHA:99921
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Fanconi Anemia, Complementation Group D2
Low-set ears, Annular pancreas, Hearing impairment, Leukemia, Pancytopenia, Cryptorchidism, Anemi... OMIM:227646
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A... OMIM:617523
Blau Syndrome
Erythema, Xerostomia, Skin ulcer, Dry skin, Abnormality of the liver, Clear cell renal cell carci... ORPHA:90340
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Pancytopenia, Left ventricular hypertrophy OMIM:618321
Ciliary Dyskinesia, Primary, 14
Polysplenia, Otitis media, Immotile sperm, Reduced sperm motility, Male infertility OMIM:613807
Alstrom Syndrome
Alopecia, Elevated circulating hepatic transaminase concentration, Pigmentary retinopathy, Decrea... OMIM:203800
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... ORPHA:3097
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Failure to thrive, Fair hair, Premature graying of hair, In... OMIM:620331
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom... OMIM:301108
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Hypopigmentation of the skin, Failure to thrive, Hepatic steatosis, Pancreati... OMIM:236200
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Kaposiform Lymphangiomatosis
Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Ecchymosis, Abnormality ... ORPHA:464329
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Progeroid facial appearance, Hypertrichosis, Microcytic anemia, Premature graying of ha... OMIM:256040
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dystrophic toenail, Dystrophic fingernails, Facial erythema, Hyperconvex nail, High palate, Onych... ORPHA:495
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, High palate, Brittle hair ORPHA:50812
Ichthyosis With Erythrokeratoderma
Erythema, Leukonychia, Nail pits, Scaling skin OMIM:620507
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Sparse eyelashes, Palmoplant... OMIM:605676
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Doors Syndrome
Low-set ears, Optic atrophy, Toenail dysplasia, Atresia of the external auditory canal, Abnormal ... ORPHA:79500
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid leukemia, Anemia OMIM:614742
Rhombencephalosynapsis
Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Septo-optic d... ORPHA:59315
Rothmund-Thomson Syndrome
Neoplasm of the skin, Sparse eyebrow, Basal cell carcinoma, Aplastic anemia, Small nail, Alopecia... ORPHA:2909
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy ORPHA:254930
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Renal tubular aci... OMIM:613404
Acute Radiation Syndrome
Hypopigmentation of the skin, Lymphopenia, Hyperpigmentation of the skin, Thrombocytopenia, Granu... ORPHA:454831
Dubowitz Syndrome
Aplastic anemia, Sparse lateral eyebrow, Postnatal growth retardation, Intrauterine growth retard... OMIM:223370
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology ORPHA:494
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Pituitary adenoma, Striae distensae, Ecchymosis, Hir... OMIM:219090
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529808
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Vulvovaginal Gingival Syndrome
Erythema, Ridged nail ORPHA:83453
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Elevated circulating creatine ki... ORPHA:157
Achondrogenesis, Type Ib
Abdominal distention OMIM:600972
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Poor wound healing, Absent hair, Trichorrhexis nodosa,... ORPHA:1010
Hellp Syndrome
Hypotension, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuri... ORPHA:244242
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Immunodeficiency 10
Autoimmune hemolytic anemia, Splenomegaly, Nail dysplasia, Abnormal lymphocyte count, Lymphadenop... OMIM:612783
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Failure to thrive, Postnatal growth retardation, Leukocytosis, Splenomegaly, ... ORPHA:289157
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Scaling skin, Dry skin OMIM:614457
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, Reticular hyperpigm... OMIM:224230
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Fountain Syndrome
Erythema, Cutis marmorata, Thick eyebrow, Synophrys ORPHA:3219
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:613658
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi... ORPHA:2269
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Anorectal anomaly, Sparse hair ORPHA:1839
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Renpenning Syndrome
High, narrow palate, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Anal atresia, Cleft p... ORPHA:3242
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Furrowed tongue, Chronic monilial nail infection, Nail dystrophy, Nail dys... OMIM:158310
Camptobrachydactyly
Septate vagina OMIM:114150
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema ORPHA:100057
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leuk... OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, T... ORPHA:33001
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Microscopic Polyangiitis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Subcutaneous hemorrhage, Gastrointestinal infa... ORPHA:727
Mednik Syndrome
Erythema, Microcolon, Hepatic fibrosis, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Hereditary Acrokeratotic Poikiloderma
Erythema, Xerostomia, Dystrophic toenail, Skin ulcer, Oral leukoplakia, Ankyloglossia, Nail dystr... ORPHA:2907
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Neuroleptic Malignant Syndrome
Thrombocytopenia, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytosis ORPHA:94093
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthrit... ORPHA:85414
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections ORPHA:935
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Breast hypoplasia, Nail dysplasia, Oligozoospermia, Sparse hair, Diabetes mellitus, C... OMIM:614813
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepa... OMIM:617388
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Diarrhea, Portal fibrosis, Portal inflammation, Ascites, Malabsorption,... OMIM:602347
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries ORPHA:137675
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Pallor OMIM:246450
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Syncope, Orthostatic hypotension, Anemia, Tachycar... ORPHA:71273
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Feeding difficulties, Abdominal distention OMIM:620275
Muckle-Wells Syndrome
Anemia, Hepatomegaly, Splenomegaly, Urticaria ORPHA:575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Trichiasis, Hypopigmentation of the skin, Xerostomia, Diarrhea, Oral-p... ORPHA:95455
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc... OMIM:618820
Cirrhosis, Familial
Fulminant hepatitis, Esophageal varix, Abdominal distention OMIM:215600
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr... ORPHA:91500
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Leukopenia, Hepatic steatosis, Neutropenia, Thromboc... OMIM:616271
Retinitis Pigmentosa 75
Pallor OMIM:617023
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Hyperlipidemia, Hepatic steatosis, Generalized hirsutis... ORPHA:254346
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Primary Biliary Cholangitis
Splenomegaly, Increased circulating IgA level, Hyperpigmentation of the skin, Orthostatic hypoten... ORPHA:186
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Ocular albinism... ORPHA:79430
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Macroorchidism, Abnormally folded helix OMIM:309520
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Familial Benign Copper Deficiency
Anemia, Early balding ORPHA:1551
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Increased circulating beta-C-terminal t... OMIM:248250
Listeriosis
Arteritis, Abscess, Pustule, Endocarditis, Acute kidney injury, Osteomyelitis, Peritonitis, Hepat... ORPHA:533
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrhage, Rena... ORPHA:73263
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Elevated circulating... ORPHA:228308
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Male infertility OMIM:612444
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Smith-Lemli-Opitz Syndrome
Small scrotum, Facial capillary hemangioma, Cryptorchidism, Abdominal distention, Hypospadias, Pr... OMIM:270400
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Tachycardia, Epididym... ORPHA:99827
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Glutamine Deficiency, Congenital
Erythema OMIM:610015
Kawasaki Disease
Strawberry tongue, Abnormality of nail color, Hepatitis, Cervical lymphadenopathy, Thrombocytosis... ORPHA:2331
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytosis, Peritonitis, Pan... ORPHA:90038
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Ifap Syndrome 2
Atrichia, Sparse hair, Perioral erythema, Nail dystrophy OMIM:619016
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Hemolytic anemia, Malar rash, Hematuria, Proteinuria, Lupus nephr... ORPHA:536
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ocular albinism, Cryptorchidism, Sensorineural hearing impairment, EEG abn... ORPHA:2719
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Chime Syndrome
Erythema, Acute leukemia, Skin ulcer, Fine hair, Sparse hair, Cleft palate ORPHA:3474
Coach Syndrome 1
Optic disc pallor, Splenomegaly, Esophageal varix OMIM:216360
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hirsutism... OMIM:209900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Persistence of hemoglobin F OMIM:617101
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Nausea and vomiting, Nail dystrophy, Intestinal atresia, Abdominal di... ORPHA:79403
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Garg-Mishra Progeroid Syndrome
Small nail, Postnatal growth retardation, Microvesicular hepatic steatosis, Short stature, Sparse... OMIM:620601
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Cyanosis, Splenomegaly, Hepatomegaly ORPHA:2414
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Protuberant abdomen, Abdominal distention OMIM:619879
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Failure to thrive, Hepatocellular necrosis, Cholestasis,... OMIM:256810
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Abnormal toenail morphology, Bro... ORPHA:1334
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Abdominal distention, Episodic abdominal pain, N... ORPHA:100086
Mirizzi Syndrome
Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Abdominal pain, Abnorm... ORPHA:521219
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Esophageal varix ORPHA:367
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Camptobrachydactyly
Septate vagina ORPHA:1319
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Microcytic anemia, Intrauterine growth retardation, Long eyelashes, Leukocytos... ORPHA:99843
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia ORPHA:1305
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Cholestasis, ... OMIM:615895
Zimmermann-Laband Syndrome
Bifid uvula, Facial hypertrichosis, Hypoplastic fingernail, Long eyelashes, Thick eyebrow, Spleno... ORPHA:3473
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Abdominal di... ORPHA:309031
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp... ORPHA:79145
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Hepatic steatosis, Elevated circulat... OMIM:201450
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Facial hypertrichosis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, ... ORPHA:79277
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Abnormal lymphocyte morphology, Decreased circulating antibody level,... ORPHA:293978
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Infection associated neutropenia, Hepati... ORPHA:445038
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Splenomegaly, Ovarian cyst, Par... OMIM:188400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steat... ORPHA:189427
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Pseudo-Torch Syndrome 1
Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, High palate OMIM:251290
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Bundle branch block... ORPHA:324
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Palmoplantar erythema, Facial erythema, Skin vesicle ORPHA:64745
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Glomerulonephritis, T... ORPHA:470
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney disease, Cerebellar he... OMIM:251000
Juvenile Dermatomyositis
Erythema, Alopecia, Gastrointestinal hemorrhage, Skin ulcer, Dry skin, Telangiectasia of the skin... ORPHA:93672
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Long eyelashes, Thick eyebrow, Cryptorchidism,... ORPHA:193
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Cerebral atrophy, Cryptorchidism, Sensorineural hearing impairment,... OMIM:301040
Macrocephaly/Autism Syndrome
Coarse hair, Lymphopenia, Splenomegaly, Cutis laxa, Hepatomegaly, High palate OMIM:605309
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Alopecia, Reduced subcutaneous adipose t... OMIM:137940
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Cafe-au-lait spot, Du... OMIM:619227
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Intestinal lym... ORPHA:90362
Neuroblastoma
Anemia, Anemic pallor, Thrombocytopenia ORPHA:635
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Dry hair, Cerebral at... OMIM:133540
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Intrauterine growth retardation, Pancyto... OMIM:615846
Focal Dermal Hypoplasia
Erythema, Alopecia, Gastroesophageal reflux, Duodenal atresia, Telangiectasia of the skin, Papill... ORPHA:2092
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Cleft palate OMIM:215100
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Prostate neoplasm ORPHA:99867
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Pemphigus Foliaceus
Erythema, Neoplasm of the skin, Skin vesicle, Hematological neoplasm, Scaling skin ORPHA:79481
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Xeroderma Pigmentosum
Erythema, Alopecia, Dry skin, Neoplasm, Telangiectasia, Conjunctival telangiectasia, Melanoma, Te... ORPHA:910
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Abdominal distention ORPHA:85166
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Episcleritis, Skin rash, Infectious... ORPHA:761
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Cholestasis, Dry skin, Hepatosplenomegaly, Cleft soft palate, Reduced subcutaneous adip... OMIM:619503
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Inclusion body fibromatosis ORPHA:88630
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Dravet Syndrome
Pallor ORPHA:33069
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Leukocytosis, Abdominal distention, Chronic diarrhea OMIM:620233
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutrope... OMIM:613179
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adrenal glands, Hypospa... ORPHA:139466
Bullous Pemphigoid
Erythema, Urticaria ORPHA:703
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Bila... ORPHA:3253
Dubowitz Syndrome
Hearing impairment, Sparse lateral eyebrow, Fine hair, Abnormal female external genitalia morphol... ORPHA:235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Cryptorchidism, Hearing impairment OMIM:193700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaphroditis... ORPHA:847
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Protuberant abdomen OMIM:618272
American Trypanosomiasis
Pallor, Splenomegaly ORPHA:3386
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Renal insu... ORPHA:728
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... OMIM:608836
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Noonan Syndrome
Coarse hair, Low-set, posteriorly rotated ears, Delayed menarche, Aplasia of the semicircular can... ORPHA:648
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Failure to thrive, Hypocholesterolemia, Short stature, Sparse hair OMIM:244450
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Gitelman Syndrome
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Renal potassium was... ORPHA:358
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Alg6-Cdg
Protein-losing enteropathy, Puberty and gonadal disorders, Macroglossia, Increased circulating an... ORPHA:79320
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Septo-optic dysplasia, Cleft palate, Optic nerve h... ORPHA:3157
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora OMIM:207410
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu... ORPHA:90695
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... OMIM:615710
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Albinism, Chronic ... OMIM:242840
Poliomyelitis
Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia ORPHA:2912
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria, Eleva... OMIM:607155
Oculoskeletodental Syndrome
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Low anterior hairline, Low posterior ha... OMIM:618440
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:3453
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Hypertensive crisis, Acute kidney injury, Oliguria,... ORPHA:544482
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Purpura OMIM:235400
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Leukonychia OMIM:617525
Liver Disease, Severe Congenital
Dry hair, Diarrhea, Abdominal distention, Hypospadias, Chronic gastritis, Peritonitis, Anemia, Hy... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatomegaly OMIM:614922
Poikiloderma With Neutropenia
Sparse eyebrow, Sparse lateral eyebrow, Leukopenia, Splenomegaly, Reticular hyperpigmentation, Na... OMIM:604173
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Dysphagia, Esophageal stenosis, Orthostatic hypotension OMIM:615510
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Rapp-Hodgkin Syndrome
Sparse hair, Bifid uvula, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernume... OMIM:129400
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Decreased liver func... ORPHA:79319
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Anteriorly placed anus, Premature graying of hair, Na... OMIM:268400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing... ORPHA:978
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... ORPHA:449427
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi... OMIM:614077
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Adrenomyeloneuropathy
Frontal balding, Male sexual dysfunction, Female sexual dysfunction, Lip hyperpigmentation, Fine ... ORPHA:139399
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Rhizomelic Chondrodysplasia Punctata
Dry skin, Alopecia, Sparse body hair ORPHA:177
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Diarrhea, Vomiting, Hypertrichosis, Villous atrophy, Low po... ORPHA:79328
Alternating Hemiplegia Of Childhood
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Thin eyebrow, Gastrointestin... ORPHA:2131
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Primary amenorrhea, Testicular atrophy, Premature ovarian insuf... OMIM:157640
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Abnormal gastric mucosa morphology, T... ORPHA:904
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
Fanconi-Bickel Syndrome
Hepatic failure, Diabetes mellitus, Abdominal distention, Hepatocellular carcinoma ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Hyperaldosteronism, Elevated stool chloride content, Abdominal distention, Hy... OMIM:214700
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, EEG abnormality ORPHA:206448
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hemophagocytosis, Fine hair, Malnutrition, Leukopenia, Splenomegaly, Hepatome... OMIM:222700
Multiple Osteochondromas
Rib exostoses, Osteochondroma, Intestinal obstruction, Scapular exostoses, Dysphagia, Chondrosarcoma ORPHA:321
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Adams-Oliver Syndrome 2
Cutis marmorata, Alopecia, Small nail, Low anterior hairline OMIM:614219
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Nail dystrophy, Scarring alopecia of scalp, Abdominal diste... ORPHA:158684
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Relapsing Fever
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Prolonged prothrombin time, Neutrophilia,... ORPHA:91547
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Pancreatoblastoma
Vomiting, Diarrhea, Pancreatic calcification, Abdominal distention, Abdominal pain ORPHA:677
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Splenomegaly, Hypoplastic nippl... OMIM:269860
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Degcags Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Cr... OMIM:619488
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys ORPHA:1295
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Freckling OMIM:278720
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619481
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating creatine kinase concentrat... OMIM:609015
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Oculocerebrocutaneous Syndrome
Alopecia, Cleft palate OMIM:164180
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Acute hepatic failure, Splenomegaly, Pancreatic isl... OMIM:276700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pulmonary insuff... OMIM:208500
Proteus Syndrome
Low-set ears, Exostosis of the external auditory canal, Generalized hirsutism, Abnormality of the... ORPHA:744
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, High, narrow palate, High anterior hairline, Gastroesophageal reflux, Horizon... OMIM:619950
Aredyld Syndrome
Sparse body hair, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Refractory anemi... ORPHA:1133
Tangier Disease
Dry skin, Nail dystrophy, Splenomegaly, Nail dysplasia, Left ventricular hypertrophy, Hepatomegaly OMIM:205400
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Hematemesis, Cholangiocarcinoma, Thrombocytopenia, Melen... ORPHA:480520
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Failure to thrive, Increased hepatic ech... OMIM:619525
Angioedema, Hereditary, 1
Erythema, Intestinal edema, Angioedema OMIM:106100
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Abnormal toenail morphology ORPHA:30
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Osteogenesis Imperfecta
Intestinal obstruction, Constipation, Thrombocytopenia, Dysphagia, Visceral angiomatosis ORPHA:666
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Knee os... ORPHA:2035
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:314390
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hyperammonemia, Eleva... OMIM:212138
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Cleft palate OMIM:184250
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Tachycardia, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Heart murmur, Multiple bladder diverticula, Recurrent otitis media ORPHA:2728
Hypomelanosis Of Ito
Alopecia OMIM:300337
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Vascular skin abnormality, Hypoplastic toenails, Sparse eye... ORPHA:544488
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Splenome... OMIM:261515
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive OMIM:210200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Joint contracture OMIM:614498
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Retrograde ejaculation, Hydrocele testis, Impotence ORPHA:49041
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro... OMIM:607823
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Hy... ORPHA:206436
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Bruising susceptibility, Dorsocervical fat pad, Hirsutism, Fragile skin OMIM:615830
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Generalized hyperpigmentation, Malabsorption, Splenomegaly... ORPHA:3452
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Acute Transverse Myelitis
Priapism, Gastroparesis, Abscess, Paralytic ileus, Constipation, Abnormal libido ORPHA:139417
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Premature skin wrinkling, Intrauterine growth retardation, Acanthocytosis, Poi... OMIM:618947
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism ORPHA:3301
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Irregular hyperpigmentation, Lymphoma, Cap... ORPHA:109
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia OMIM:619859
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Splenomegaly, Petechiae, Cardiomegaly, Hepatomegaly, Dysphagia, Thro... OMIM:608013
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Neoplasm of the skin, Abnormal circulating calcium-phosphate regulating horm... ORPHA:534
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... ORPHA:49566
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Frontal upsw... ORPHA:93932
Tay-Sachs Disease
Pallor OMIM:272800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase ... OMIM:616878
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Bowel incontinence, Abdominal distention ORPHA:309271
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Hypertension, ... OMIM:243910
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy, Hyperinsulinemi... OMIM:602579
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, High palate, Redundant skin, Flushing OMIM:259100
Neuroendocrine Tumor Of Stomach
Hepatic failure, Elevated circulating hepatic transaminase concentration, Weight loss, Iron defic... ORPHA:100075
Agel Amyloidosis
Cardiomyopathy, Stage 5 chronic kidney disease, Orthostatic hypotension due to autonomic dysfunct... ORPHA:85448
Spinal Cord Injury
Paralytic ileus ORPHA:90058
Adult Syndrome
Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic... OMIM:103285
Immunodeficiency 31C
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... OMIM:614162
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Oral leukoplakia, Onychogryposis of toenails, Fingernail ... ORPHA:2309
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Abnormality of the spleen, Azoospermia, Hepatosplenomegaly, Pancytopenia, Splenom... ORPHA:2072
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal... ORPHA:2929
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Meningococcal Meningitis
Stiff neck, Hypothermia, Skin rash, Infectious encephalitis ORPHA:33475
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Lack of skin elasticity ORPHA:1366
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Hyperpigmentation of the skin, Lymphadenopathy, Neutrope... ORPHA:293173
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai... ORPHA:678
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In... OMIM:617595
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur... ORPHA:423
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Elevated circulating parathyroid hormone level, Secondary hyperparathyroidi... OMIM:277440
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Postnatal growth retarda... OMIM:619127
Bresek Syndrome
Aganglionic megacolon, Alopecia, Cleft palate ORPHA:85284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia, Abdominal distention OMIM:619351
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Progeroid facial appearance, Decreased adipose tissue around neck, Prominent superficia... OMIM:608612
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Protuberant abdomen OMIM:617102
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Leigh Syndrome
Alopecia, Hypertrichosis, Anemia, Gastrointestinal dysmotility, Neutropenia, Frontal hirsutism, D... ORPHA:506
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Koolen-De Vries Syndrome
High, narrow palate, Cryptorchidism, Feeding difficulties in infancy, Hypothyroidism, Abnormality... ORPHA:96169
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Cryptorchidism, Sparse eyelashes, Abnormality of skin pigmentation, Testicular to... ORPHA:75496
Kindler Syndrome
Anal stenosis, Oral leukoplakia, Spotty hyperpigmentation, Spotty hypopigmentation, Dysphagia, Es... OMIM:173650
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... ORPHA:556
Sunct Syndrome
Facial erythema, Flushing ORPHA:57145
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:348
Biotinidase Deficiency
Hepatomegaly, Alopecia, Splenomegaly OMIM:253260
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy, Scaling skin ORPHA:100976
Timothy Syndrome
Pneumonia, Hypothermia OMIM:601005
Intussusception
Intussusception OMIM:147710
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, B... OMIM:257220
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar... OMIM:603860
Kury-Isidor Syndrome
Alopecia, High palate, Hypertrichosis OMIM:619762
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Ectopic anus, Ambiguous genitalia, Anal atresia, Esophageal atr... ORPHA:93271
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Gm1-Gangliosidosis, Type I
Hypertrichosis, Splenomegaly, Angiokeratoma corporis diffusum, Hepatomegaly, Vacuolated lymphocytes OMIM:230500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly ORPHA:585
Flynn-Aird Syndrome
Alopecia, Skin ulcer ORPHA:2047
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema OMIM:613943
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Splenomegaly, Esophageal varix OMIM:263200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Dysphagia, Alopecia, Pancreatitis, Progeroid facial appearance ORPHA:412057
Xfe Progeroid Syndrome
Proteinuria, Hypertension, Renal insufficiency, Hypoalbuminemia OMIM:610965
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Telangiectasia, Proteinuria, Chordee, Micropenis OMIM:300519
Monosomy 13Q34
Growth delay, Horizontal eyebrow, Obesity, Hepatic steatosis, Hypercalcemia ORPHA:96168
Hyper-Igd Syndrome
Diarrhea, Vomiting, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopath... OMIM:260920
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Splenomegaly OMIM:300842
Monosomy 22
Low-set, posteriorly rotated ears, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcy... ORPHA:96123
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Gaucher Disease, Type Ii
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyelashes, Absent eyebrow, Sparse hair, Cleft palate ORPHA:2316
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Curry-Jones Syndrome
Generalized hirsutism, Hypopigmented skin patches ORPHA:1553
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu... OMIM:300942
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Pulmona... ORPHA:77261
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Mandibulofacial Dysostosis With Alopecia
Alopecia, Glossoptosis, Cleft palate, Sparse eyelashes OMIM:616367
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Monosomy 18P
Low posterior hairline, Alopecia, Cleft palate ORPHA:1598
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Congestive heart failur... ORPHA:90349
Familial Thyroid Dyshormonogenesis
Hypothermia, Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure ORPHA:95716
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Hypertrichosis, Protuberant abdomen, Micropenis, Tube feeding, Hypospadias... OMIM:619479
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased circulating total IgG, Hypertrichosis, Decreased pro... ORPHA:221139
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Vici Syndrome
Hypopigmentation of the skin, Abnormality of retinal pigmentation ORPHA:1493
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Abnorm... ORPHA:93111
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Reduced subcutaneous adipose tissue OMIM:612079
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema OMIM:606545
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614924
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle ORPHA:2841
Ciliary Dyskinesia, Primary, 1
Asplenia, Conductive hearing impairment, Chronic otitis media, Male infertility OMIM:244400
Diaphanospondylodysostosis
Protuberant abdomen, Nephroblastomatosis, Cleft palate, Hypoplastic fingernail OMIM:608022
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Pallor, Primary amenorrhea OMIM:617675
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Vomiting, Bifid scrotum, Supernumerary nipple, Cryptorchidi... OMIM:235730
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Ataxia-Telangiectasia
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor... OMIM:208900
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Pontocerebellar Hypoplasia, Type 7
Hirsutism, Hypopigmentation of the skin, Synophrys OMIM:614969
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria ORPHA:86818
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly, Aplas... OMIM:612132
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Nail dystrophy, Squamous cell carcinoma, Anonychia, Fragile skin, Gastrointestinal infl... ORPHA:79404
Gomez-Lopez-Hernandez Syndrome
Alopecia, High palate OMIM:601853
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Familial Mediterranean Fever
Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease, Episodic a... OMIM:249100
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Atypical Werner Syndrome
Neoplasm of the skin, Subcutaneous calcification, Premature graying of hair, Abnormal hair morpho... ORPHA:79474
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, High palate, Eso... ORPHA:394
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Senior-Loken Syndrome 8
Pallor OMIM:616307
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy OMIM:242300
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Tracheoesophageal fistula, Esophageal atresia, Anemia, Anal atresia,... OMIM:614083
Giant Cell Arteritis
Alopecia, Abnormality of thrombocytes, Skin ulcer, Gastrointestinal infarctions, Glossitis, Media... ORPHA:397
Gapo Syndrome
High, narrow palate, Alopecia, Sparse eyebrow, Breast hypoplasia, Prominent scalp veins, Redundan... OMIM:230740
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski... ORPHA:1806
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis OMIM:619273
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Hypothermia, Hip contracture, Finger... OMIM:618493
Chops Syndrome
Coarse hair, Gastroesophageal reflux, Gastroparesis, Long eyelashes, Thick eyebrow, Splenomegaly,... OMIM:616368
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Spotty hypopigmentation, Cryptorchidism ORPHA:401973
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Male infertility OMIM:614935
Childhood Absence Epilepsy
Pallor ORPHA:64280
Noonan Syndrome 1
Low-set ears, Hearing impairment, Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism,... OMIM:163950
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Erythroid hyperplasia, Splenomegaly, Loss of eyelashes, Scarring alopecia ... ORPHA:95159
Congenital Enterovirus Infection
Hepatitis, Skin rash, Hypothermia, Infectious encephalitis, Myocarditis ORPHA:292
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Abnormal tongue morphology, Hypoplastic ... ORPHA:2457
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Cardiomegaly, Absent ... ORPHA:158687
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:620138
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:206549
Duane Retraction Syndrome
Irregular hyperpigmentation, Hearing impairment, Hypopigmented skin patches, Central heterochromi... ORPHA:233
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Protuberant abdomen OMIM:264700
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail ORPHA:257
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Generalized hypopigmentation OMIM:617306
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Left ventricular hypertrophy, Dry skin OMIM:620510
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimul... OMIM:618183
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Q Fever
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... ORPHA:781
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Splenomegaly, Hirsutism, Protuberant abdomen, Macroglossia OMIM:253220
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Chronic hepatic ... ORPHA:746
Riddle Syndrome
Erythema, Telangiectasia, Conjunctival telangiectasia, Generalized lymphadenopathy, Scaling skin ORPHA:420741
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... OMIM:607625
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Brittle Cornea Syndrome
Conductive hearing impairment, Abnormality of hair pigmentation, Sensorineural hearing impairment ORPHA:90354
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Chordee, Impaired T cell function, Esophageal ulceration OMIM:176690
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly ORPHA:3035
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair ORPHA:1979
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Highly arched eyebrow, Hearing impairment, Low... ORPHA:138
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Progeroid facial appearance, Breast aplasia, Abnormal eyebrow morphology, Lack of skin ... ORPHA:90153
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, High palate, Gastroesophageal reflux OMIM:614653
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Coarse hair, Malabsorption, Splenomegaly, Hirsutism, Generalized hirsutis... ORPHA:581
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Weight loss, Iron defic... ORPHA:100078
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Abdominal distention OMIM:602557
Viss Syndrome
Exostosis of the external auditory canal, Feeding difficulties, Cleft soft palate, Chronic consti... OMIM:619472
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Splen... ORPHA:731
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Superficial Epidermolytic Ichthyosis
Erythema ORPHA:455
Schneckenbecken Dysplasia
Protuberant abdomen, Cleft palate OMIM:269250
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Dilated superficia... ORPHA:171
Atelosteogenesis, Type I
Protuberant abdomen, Cryptorchidism, Cleft palate OMIM:108720
Autosomal Recessive Malignant Osteopetrosis
Anemia, Pallor, Splenomegaly ORPHA:667
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuria, Diffuse me... OMIM:251300
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Liver abscess ORPHA:2038
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Wagro Syndrome
Proteinuria, Hypertension, Nephroblastoma OMIM:612469
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Esophageal varix ORPHA:84081
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Th... ORPHA:2273
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Scaling skin on fingertip, Onychogryposis ORPHA:79395
Angelman Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Fair hair ORPHA:72
Feingold Syndrome 1
Accessory spleen, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Ga... OMIM:164280
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Alopecia, Sparse hair, Fragile nails OMIM:242150
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... ORPHA:101085
Fibrochondrogenesis 1
Hypoplastic toenails, Protuberant abdomen, Cleft palate, Hypoplastic fingernail OMIM:228520
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatosplenomegaly, Abdominal distention ORPHA:93352
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Feeding difficulties OMIM:617239
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Pigmentary retinopathy, Hypotriglyceridemia, Elevated ... ORPHA:404454
Arboleda-Tham Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Bilateral cryptorchidism, Intestinal malrotation,... OMIM:616268
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Fibrodysplasia Ossificans Progressiva
Alopecia, Hamartoma OMIM:135100
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency... OMIM:233450
Ohdo Syndrome
Proteinuria OMIM:249620
Hurler Syndrome
Hepatosplenomegaly, Splenomegaly, Hirsutism, Protuberant abdomen, Macroglossia OMIM:607014
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Alopecia totalis, Trachyonychia, Pyloric stenosis OMIM:615577
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ... OMIM:613471
Achondrogenesis, Type Ii
Protuberant abdomen, Cleft palate OMIM:200610
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Squamous cell carcinom... ORPHA:363618
Ablepharon Macrostomia Syndrome
Hearing impairment, Atresia of the external auditory canal, Fine hair, Abnormal female external g... ORPHA:920
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Death in childhood, Schistocytosis, Anisopoikilocytosis, Anemia OMIM:616457
Hardikar Syndrome
Pigmentary retinopathy, Intestinal malrotation, Hepatosplenomegaly, Cleft soft palate, Hypersplen... OMIM:301068
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Overfolded helix, Hypopigmentation of hair, Posteriorly rotated ears, Wido... ORPHA:1974
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... ORPHA:1234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatic... OMIM:615356
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Juvenile myelomonocytic leukemia, Fine hair, Hepatosplenomegaly, Splenomeg... OMIM:613563
Apert Syndrome
Vaginal atresia, Cryptorchidism OMIM:101200
Colchicine Poisoning
Alopecia, Leukocytosis ORPHA:31824
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperbilirubinemia, H... OMIM:229600
Multicystic Dysplastic Kidney
Cryptorchidism, Abdominal distention ORPHA:1851
Gaucher Disease
Splenic infarction, Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Pancy... ORPHA:355
Ruvalcaba Syndrome
Generalized hirsutism, Hypopigmented skin patches ORPHA:3121
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Alopecia, Small nail OMIM:308050
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... OMIM:618223
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Cleft palate ORPHA:2347
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Exostoses ORPHA:1647
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Episodic abdominal pain, Jaundice, Nausea, Acute panc... OMIM:238600
Lymphatic Malformation 7
Anemia, Abdominal distention OMIM:617300
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Odontogenic neoplasm, Hamartoma of tongue, Dry skin, Pancreatic cysts, Exo... ORPHA:2750
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Anal atresia, Esophageal diverticulum, Cleft palate OMIM:617925
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Hepatomegaly, Cirrhosis, Ach... ORPHA:30391
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Macroorchidism, Neutropenia OMIM:208400
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal ... ORPHA:909
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Hallermann-Streiff Syndrome
High, narrow palate, Alopecia, Sparse eyebrow, Rib exostoses, Abdominal situs inversus, Sparse bo... ORPHA:2108
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Abscess, Neutrophilia, Hepatomegaly, Stomatitis OMIM:612852
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Low posterior hairline, Hepatoblastoma, Iron deficiency anemia, Early balding ORPHA:261584
Hyperparathyroidism, Neonatal Severe
Anemia, Hepatomegaly, Splenomegaly OMIM:239200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ... OMIM:307200
Wolfram Syndrome
Gastrointestinal hemorrhage, Gastric ulcer ORPHA:3463
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Behcet Syndrome
Erythema, Patchy alopecia OMIM:109650
Sarcoidosis
Alopecia, Parotitis, Abnormal lymph node morphology, Leukopenia, Enlargement of parotid gland, Po... ORPHA:797
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Leprosy
Alopecia, Sparse body hair, Penetrating foot ulcers, Abnormality of the spleen, Abnormality of th... ORPHA:548
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal circulating osteocalcin level, Protruding ear, Underfolded helix, Abnormal antitragus mo... ORPHA:93315
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Mixed hypo- and hyperpigmentation of the skin, Myeloproliferative diso... ORPHA:79456
Fryns Syndrome
Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglionic megacolon, Esophageal atres... OMIM:229850
Chikungunya
Erythema, Cervical lymphadenopathy, Petechiae, Skin vesicle, Lymphadenopathy, Cutaneous photosens... ORPHA:324625
Short Syndrome
Alopecia, Sparse hair, Excessive wrinkled skin ORPHA:3163
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... OMIM:122470
Alkaptonuria
Irregular hyperpigmentation, Black pigment gallstones, Hearing abnormality, Methemoglobinemia, Pr... ORPHA:56
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Progeroid facial appearance, Dry skin, Nail dystrophy, Sparse eyelashes... OMIM:614008
Intermediate Uveitis
Vasculitis, Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Neu-Laxova Syndrome 2
High palate, Protuberant abdomen, Cleft palate OMIM:616038
Corneodermatoosseous Syndrome
Abnormal fingernail morphology, Erythema, Absent fingernail ORPHA:3194
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Tetrasomy 9P
Polymicrogyria, Pachygyria, Umbilical hernia, Absent gallbladder, Cryptorchidism, Pilomatrixoma, ... ORPHA:3310
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypopigmentation of the skin, Splenomegaly, Protuberant abdomen, Brittle hair, Ma... OMIM:252500
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma, Astrocytoma, Multiple central nervous system lipomas, Lipoma OMIM:613001
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorchidism, Hirsutism, Thyroid lymph... OMIM:235510
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Mosaic Variegated Aneuploidy Syndrome
Hearing impairment, Low-set, posteriorly rotated ears, Vaginal neoplasm, Hypothyroidism, Ambiguou... ORPHA:1052
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Abnormal rectum morphology, Abnormality of the anus, Abnormal eyelash morphology, Abnor... ORPHA:2556
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, In... ORPHA:17
Microphthalmia, Syndromic 3
Optic nerve aplasia, Hypogonadotropic hypogonadism, Esophageal atresia, Hypothalamic hamartoma, O... OMIM:206900
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Vacterl With Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia ORPHA:3412
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Supraventr... OMIM:181270
Aspartylglucosaminuria
Splenomegaly, Macroorchidism, Chronic otitis media, Microtia ORPHA:93
N-Acetylglutamate Synthase Deficiency
Hypothermia OMIM:237310
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Alopecia, Absent eyebrow, Small nail ORPHA:166035
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Alopecia, Sparse eyebrow, Sparse eyelashes OMIM:610768
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Anal fissure, Cutaneous melanoma, Ankyloglossia, Squamous cell carcinoma... ORPHA:79408
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Keutel Syndrome
Alopecia ORPHA:85202
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Hypothermia ORPHA:26793
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Alopecia, Subungual hyperkeratosis, Atrichia, Dry skin, Nail dystrophy, Absent... OMIM:308205
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Warburg-Cinotti Syndrome
Erythema, Poor wound healing, Cholesteatoma, Sterile abscess, High palate OMIM:618175
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Alopecia, Bruising susceptibility, Prominent veins on trunk, Redundant skin, High ... ORPHA:536532
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Mucolipidosis Type Ii
Dry hair, Fine hair, White hair, Hepatosplenomegaly, Splenomegaly, Gastrostomy tube feeding in in... ORPHA:576
Baller-Gerold Syndrome
Bifid uvula, Erythema, Anomalous splenoportal venous system, Anteriorly placed anus, Perineal fis... OMIM:218600
Multiple Myeloma
Anemia, Functional abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:29073
Van Esch-O'Driscoll Syndrome
Bifid uvula, Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Esophageal atresia OMIM:301030
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Fragile skin,... OMIM:614748
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Atelosteogenesis Type Ii
Facial midline hemangioma, Protuberant abdomen, Cleft palate, Bilateral cleft palate ORPHA:56304
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Reduced subcutaneous adipose tissue, Hepatomegaly, High palate, Sparse scalp hair, Onyc... OMIM:248370
Tarp Syndrome
Extramedullary hematopoiesis, Thick eyebrow, Cryptorchidism, Abnormal hair pattern, Abnormal duod... ORPHA:2886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:614594
Coffin-Siris Syndrome 1
Intestinal malrotation, Hemangioma, High palate, Duodenal ulcer, Gastric ulcer, Cleft palate, Int... OMIM:135900
Cranioectodermal Dysplasia 1
High, narrow palate, Hepatic failure, Short nail, Fine hair, Slow-growing hair, Thin nail, Protub... OMIM:218330
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Bartsocas-Papas Syndrome 1
Alopecia, Anal stenosis, Small nail, Alopecia totalis, Dry skin, Absent eyelashes, Absent eyebrow... OMIM:263650
Trisomy 18
Abnormality of retinal pigmentation, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate ORPHA:3380
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus OMIM:300707
Chand Syndrome
Imperforate hymen ORPHA:1401
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Hypoplasia of the fallopian tube OMIM:273395
3Q29 Microdeletion Syndrome
Low-set ears, Abnormality of skin pigmentation, Hypospadias, Macrotia ORPHA:65286
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Splenomegaly OMIM:612301
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231005
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Somatomammotropinoma
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... ORPHA:314769
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Ring Chromosome 13 Syndrome
Alopecia, Bifid scrotum, Primary hypothyroidism, Posteriorly rotated ears, Ambiguous genitalia, U... ORPHA:96176
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Progeroid facial appearance, Abnormal hair morphology, Nail dystrophy, Prematurely aged... ORPHA:90154
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hurler Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Thick eyebrow, Splenomegaly, Generalized ... ORPHA:93473
Achondrogenesis, Type Ia
Protruding tongue, Protuberant abdomen OMIM:200600
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias OMIM:219000
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,... OMIM:604292
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small nail, External genital hypoplasia, Hepatosplenomegaly, Cryptorchidism, Gastrostomy tube fee... ORPHA:96334
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Tracheoesophag... OMIM:265380
Maternal Phenylketonuria
High palate, Esophageal atresia ORPHA:2209
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Hypopigmentation of the skin, Failure to... OMIM:619475
Adrenoleukodystrophy
Alopecia OMIM:300100
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Hypothermia ORPHA:230
Cockayne Syndrome
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Malar rash, Renal insufficienc... ORPHA:191
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Spondyloocular Syndrome
Duodenal ulcer OMIM:605822
Ring Chromosome 7 Syndrome
Cerebral cortical atrophy, Highly arched eyebrow, Prominent crus of helix, Hypogonadism, Low ante... ORPHA:1449
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati... ORPHA:1896
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Alopecia, Small nail, Premature skin wrinkling, Prominent scalp veins, Dry skin, ... OMIM:264090
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... ORPHA:2637
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... OMIM:129900
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Hepatitis, Osteomalacia, Delayed cranial suture closur... ORPHA:198
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Cryptorchidism, Hydrometrocolpos ORPHA:2473
Scorpion Envenomation
Acute pancreatitis, Erythema, Purpura ORPHA:466677
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... ORPHA:649
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
Prader-Willi Syndrome
Frontal upsweep of hair, Hypogonadotropic hypogonadism, Oligomenorrhea, Generalized hypopigmentat... OMIM:176270
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Hydrometrocolpos OMIM:617088
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Horizontal eyebrow, Ocular albinism, Abnormality of the sple... ORPHA:1606
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Mitral... ORPHA:90348
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Hypothermia, Eczematoid dermatitis, Prominent metopic ridge ORPHA:488632
Acromegaly
Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Wide penis, ... ORPHA:963
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Menkes Disease
Chondrocalcinosis, Osteomyelitis, Hypothermia, Joint hypermobility, Wormian bones, Osteoporosis, ... ORPHA:565
Aicardi Syndrome
Precocious puberty, Optic atrophy, Sparse lateral eyebrow, Optic disc coloboma, Abnormality of re... ORPHA:50
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Delayed proximal femoral epiphyseal ossification ORPHA:90673
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Sparse hair, Hepatic steatosis OMIM:619934
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Ulnar-Mammary Syndrome
Imperforate hymen, Small scrotum, Shawl scrotum, Micropenis, Bicornuate uterus OMIM:181450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Distal Deletion 12Q
High, narrow palate, Microglossia, Pituitary adenoma, Esophageal atresia, Duodenal atresia, Pylor... ORPHA:96149
Holoprosencephaly
Abnormality of the urinary system, Abnormality of the spleen, Proteinuria, Arrhythmia, Hypoplasia... ORPHA:2162
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Steinert Myotonic Dystrophy
Early balding, Cerebral cortical atrophy, Male hypogonadism, Cholelithiasis, Alopecia, Decreased ... ORPHA:273
Orthostatic Hypotension 1
Intermittent hypothermia, Joint hypermobility OMIM:223360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Small nail, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepa... OMIM:300868
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Bruising susceptibility, Lymphopenia, Abnormal lymphocyte ... ORPHA:99826
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Coarse hair, Decreased circulating total IgM, B lymphocytopenia ORPHA:83617
Opsismodysplasia
Protuberant abdomen OMIM:258480
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis OMIM:619471
Ane Syndrome
Alopecia ORPHA:157954
Esophageal Atresia
Pallor, Abnormal external genitalia ORPHA:1199
Alexander Disease
Osteopenia, Hypothermia, Infectious encephalitis ORPHA:58
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... ORPHA:3132
Aymé-Gripp Syndrome
Proteinuria, Pericarditis ORPHA:1272
Weill-Marchesani Syndrome 2
Narrow palate, High palate, Protuberant abdomen OMIM:608328
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Chromomycosis
Hypopigmented skin patches ORPHA:182
Phakomatosis Pigmentokeratotica
Cutaneous melanoma, Pheochromocytoma, Nephroblastoma, Patchy alopecia, Hemangioma, Renal transiti... ORPHA:2874
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Microglossia, Gastroesophageal reflux, Facial capillary hemangioma, Cryptor... ORPHA:818
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Sensorineural hearing impairment, Hy... OMIM:214800
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Congenital Tracheomalacia
Tracheoesophageal fistula, Gastroesophageal reflux, Esophageal atresia ORPHA:95430
Distal Deletion 19P
Alopecia, Thick eyebrow, Cleft palate ORPHA:96129
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Bifid uvula, Frontal balding, Long lower eyelashes, Palmoplantar erythema,... OMIM:612474
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Hydrocele testis, Hypospadias OMIM:619522
Encephalocraniocutaneous Lipomatosis
Alopecia, Capillary hemangioma, Neoplasm of the skeletal system, Multiple lipomas, Abnormal eyela... ORPHA:2396
Sialuria
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Synophrys OMIM:301066
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Protuberant abdomen ORPHA:50945
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Ethylene Glycol Poisoning
Gastritis, Hypothermia ORPHA:31826
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... OMIM:305600
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro... ORPHA:77293
Autosomal Recessive Robinow Syndrome
Alopecia, Fingernail dysplasia, Long eyelashes, Ankyloglossia, Ectopic anus, Bifid tongue ORPHA:1507
Autosomal Dominant Robinow Syndrome
High, narrow palate, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Capillary hemangi... ORPHA:3107
Greenberg Dysplasia
Hepatosplenomegaly, Protuberant abdomen, Pancreatic islet-cell hyperplasia OMIM:215140
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Dry skin, Alopecia, Abnormality of the nail ORPHA:428
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Anoperineal fistula, Abnormal tongue morphology, Nail dystrophy, Fragile sk... ORPHA:158668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Pallor, Pachygyria, Polymicrogyria OMIM:253280
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Pigmentary retinopathy, Failure to thrive, Slender build, Intrau... ORPHA:3455
Linear Nevus Sebaceus Syndrome
Alopecia, Cavernous hemangioma, Adenoma sebaceum ORPHA:2612
Adams-Oliver Syndrome 1
Imperforate hymen OMIM:100300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Splenomegaly, Anterior pituitary hypoplasia, Abdominal distention, Diabe... OMIM:619534
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis, Low a... OMIM:220111
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Protuberant abdomen OMIM:618019
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality... ORPHA:642
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Constipation, Abnormal duodenum morphology... OMIM:601776
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Atresia Of Urethra
Abdominal distention ORPHA:105
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Mosaic Trisomy 20
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
African Trypanosomiasis
Alopecia, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice ORPHA:3385
Gabriele-De Vries Syndrome
High palate, Esophageal atresia, Oral-pharyngeal dysphagia, Neuroblastoma ORPHA:506358
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Periodontitis OMIM:619269
Trichotillomania
Alopecia OMIM:613229
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Vater/Vacterl Association
Anal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:192350
Biotinidase Deficiency
Alopecia ORPHA:79241
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Splenomegaly, Asplenia, Bile duct pro... OMIM:249000
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia OMIM:608643
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Generalized abnormality of skin, Premature skin wrinkling, Alopecia totalis, ... ORPHA:740
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis... ORPHA:79078
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia ORPHA:255210
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure ORPHA:226307
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Alopecia, Thin eyebrow, Submucous cleft hard palate, Loss of eyelashes, Sparse hair,... ORPHA:2636
Lymphangioleiomyomatosis
Ungual fibroma, Optic atrophy, Abnormality of skin pigmentation, Abnormal morphology of female in... ORPHA:538
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Cerebral hemorrhage OMIM:616682
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Dermal translucency, Alopecia, Bruising susceptibility, Gastrointestinal inf... ORPHA:286
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Pmm2-Cdg
Hypoalbuminemia, Aspiration pneumonia, Hypertrophic cardiomyopathy, Reduced thyroxin-binding glob... ORPHA:79318
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias OMIM:136140
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Pallister-Hall Syndrome
Precocious puberty, Small scrotum, Aplasia/Hypoplasia of the vagina, Aplasia/hypoplasia of the ut... ORPHA:672
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Supernumerary nipple ORPHA:2896
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Infectious encephalitis ORPHA:293987
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Aspiration pneumonia, Hypothermia, Joint hypermobility, Osteoporosis ORPHA:438213
Microphthalmia, Syndromic 2
Septate vagina, Hypospadias, Cryptorchidism OMIM:300166
Yellow Fever
Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemesis, Internal h... ORPHA:99829
Pallister-Killian Syndrome
Bifid uvula, Sparse eyebrow, Alopecia, Anal stenosis, Anteriorly placed anus, Supernumerary nippl... OMIM:601803
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Sotos Syndrome
Hypopigmentation of the skin, Small nail, Sparse anterior scalp hair, Decreased fertility, Hyperp... ORPHA:821
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Septate vagina, Cryptorchidism, Micropenis, Rectovaginal fistula, Hypospadi... OMIM:243800
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hydrometrocolpos OMIM:150230
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti... ORPHA:90062
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypopigmented skin patches, Splenomegaly, Thrombocytopenia ORPHA:567
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Hydrocele testi... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Hydrocele testi... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Hydrocele testi... ORPHA:261552
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... OMIM:261540
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Kit

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 Kit.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Kit Ligand and Kit receptor tyrosine kinase sustain synaptic inhibition of Purkinje cells. eLife (March 2024) Kittm1c(EUCOMM)Hmgu Kittm1a(EUCOMM)Hmgu PMC10972566

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kittm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kittm33626(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kittm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kitem1(IMPC)Ccpcz Exon Deletion Mice

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