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Gene: Ahr MGI:105043

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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:
aryl-hydrocarbon receptor
Synonyms:
Ah,  dioxin receptor,  bHLHe76,  Ahre,  In,  Ahh

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ahr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Retinitis Pigmentosa 85
Rod-cone dystrophy OMIM:618345

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Erythema, Lym... ORPHA:2584
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Portal hypertensio... OMIM:607626
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... ORPHA:70578
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent c... ORPHA:47
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur... ORPHA:411536
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Chronic... OMIM:613489
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dystonia, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy... ORPHA:79233
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding di... ORPHA:3260
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... OMIM:614602
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive, Ventricular septal ... OMIM:614576
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransfer... ORPHA:53035
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter... OMIM:193670
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Neutrophilia, Pustule,... OMIM:614204
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failu... OMIM:614480
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, He... OMIM:615895
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Pate... OMIM:301068
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Gout, Hyperuricosuria, Arthr... ORPHA:411543
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Skin ulcer, Lymp... ORPHA:424019
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Vomiting, A... ORPHA:2552
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Ethanolaminosis
Cardiomegaly OMIM:227150
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hype... ORPHA:525
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, Growth del... OMIM:619164
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Scaling sk... ORPHA:39812
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Elevated g... OMIM:278000
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria OMIM:300323
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy OMIM:619175
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema... OMIM:269840
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Neoplasm, P... ORPHA:1775
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ reg... OMIM:606367
Prolidase Deficiency
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Eryth... ORPHA:742
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Lesch-Nyhan Syndrome
Short stature, Nephrolithiasis, Opisthotonus, Nephrocalcinosis, Choreoathetosis, Hyperuricosuria,... OMIM:300322
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Takayasu Arteritis
Myocardial infarction, Anorexia, Subcutaneous nodule, Gastrointestinal infarctions, Vasculitis, S... ORPHA:3287
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Abdominal distenti... ORPHA:369
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Skin ulcer, Weight loss, Leukopen... ORPHA:33355
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... OMIM:170100
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ... ORPHA:84064
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Recurrent ... OMIM:615207
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, L... ORPHA:39041
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Cutaneous Mastocytoma
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Abdominal pai... ORPHA:79455
Alveolar Echinococcosis
Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension, Hepatic cysts, ... ORPHA:284
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Cronkhite-Canada Syndrome
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Neoplasm, Stomach cancer, Dystrophic fin... ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... ORPHA:264580
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Cholestasis, Progressive Familial Intrahepatic, 11
Pruritus, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619874
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... ORPHA:69663
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia, Rod-cone dystrophy OMIM:602097
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Pre... ORPHA:902
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... ORPHA:2221
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Short stature, Elevated cir... OMIM:614921
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Squamous cell carcinoma, Sparse hair, Tiger tail banding, Tric... OMIM:601675
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splen... ORPHA:100025
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome... ORPHA:824
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Dyspareunia, Skin rash, Abnormal fingernail morphology, Feeding ... ORPHA:1334
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Elbow flexion contra... OMIM:604416
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Allergic rhi... ORPHA:90368
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Dilated cardiomyopathy, Chron... OMIM:613989
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoplasia of the musculatu... ORPHA:231226
Transaldolase Deficiency
Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Micronodul... OMIM:606003
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Failure to thrive, Absence of lymph node germinal center, Splenom... OMIM:308230
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Aplasia/Hypoplasia of the ski... ORPHA:2028
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Pedal edema, Increased circulating IgG level, Inflammation of the large intestine, Decreased circ... ORPHA:98813
Cranioectodermal Dysplasia 2
Cholangitis, High palate, Sparse hair, Atrial septal defect, Patent foramen ovale, Hepatomegaly, ... OMIM:613610
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast... ORPHA:91138
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Recu... OMIM:616433
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... OMIM:300400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ... ORPHA:2591
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Tendon thickening, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic ... ORPHA:530838
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Sparse scalp hair, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Pancr... OMIM:266920
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr... ORPHA:169154
Dubowitz Syndrome
Abnormality of neutrophils, Hypoplastic toenails, Rectal prolapse, Low anterior hairline, Neoplas... ORPHA:235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... OMIM:304790
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... OMIM:618955
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Hepatic stea... ORPHA:101330
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Hypertrichosis OMIM:176090
Caspase 8 Deficiency
Failure to thrive, Short stature, Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Lymphadenopa... OMIM:607271
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Giant Cell Arteritis
Glossitis, Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Med... ORPHA:397
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, ... ORPHA:52416
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Skin ulc... ORPHA:90280
Chronic Granulomatous Disease
Macule, Hepatomegaly, Sinusitis, Liver abscess, Hypermelanotic macule, Eczema, Malabsorption, Abn... ORPHA:379
Erythrokeratodermia Variabilis
Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal testis morphology, Short stature, Ab... ORPHA:317
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Myopathy, Di... OMIM:232400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Abdominal pain, Rectal prolapse... OMIM:175200
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Lymphocytoma cutis, Tu... ORPHA:449395
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous a... ORPHA:398063
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Donohue Syndrome
Skeletal muscle atrophy, Hypermelanotic macule, Precocious puberty, Abdominal distention, Postnat... OMIM:246200
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegal... OMIM:235200
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Hypoplasia of the musculatu... ORPHA:231214
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatitis, Ulcerative... OMIM:617638
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... ORPHA:37042
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Urinary incontinence, Macular degeneration, Abnormal vestibulo-ocular reflex, Int... ORPHA:247234
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Short stature, Sensorineural hearing impairment, Urolithiasis, ... OMIM:300661
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Thyro... OMIM:235510
Toxic Epidermal Necrolysis
Acute hepatic failure, Intestinal perforation, Conjunctivitis, Neutropenia, Macule, Sudden cardia... ORPHA:537
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Aa Amyloidosis
Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Abnorma... ORPHA:85445
Acrodermatitis Enteropathica
Ridged nail, Anorexia, Poor appetite, Paronychia, Conjunctivitis, Abnormality of the nail, Alopec... ORPHA:37
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Intractable diarrhea, Intrauterine ... OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:619868
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Hepatocellular carcinoma, Limb-girdle muscle weakness, Inc... ORPHA:79240
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... OMIM:142680
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Sp... OMIM:616589
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Leprechaunism
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Clitoral hypertrophy, Overgrowth of exte... ORPHA:508
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... OMIM:613759
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:620010
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Exercise-induced rha... ORPHA:284426
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Decreased mitochondrial complex III activity in live... OMIM:124000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... OMIM:613812
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains, Port... OMIM:619487
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... OMIM:307200
Mirage Syndrome
Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumonia,... OMIM:617053
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Recurrent pneumonia, Cor pulmona... OMIM:219700
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Bardet-Biedl Syndrome 10
Renal insufficiency, Retinal dystrophy, Obesity, Renal cyst, Hypogonadism, Rod-cone dystrophy OMIM:615987
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Hepatic steatosis, Hepatomegaly, Centrally nucleated skeletal muscle fibers,... OMIM:613327
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Abnormal heart morphology, Cardiomyo... ORPHA:79327
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... ORPHA:2269
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdominal wal... ORPHA:834
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... ORPHA:477
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno... ORPHA:79301
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Redundant skin, Morgagni diaphragmatic her... OMIM:613177
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:64739
Sandhoff Disease
Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metabolism, Cherry red spot of the macula,... ORPHA:796
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund... ORPHA:905
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Incre... ORPHA:37748
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Feeding difficulties in infancy, Abnormal left ventricular function, Leukope... OMIM:301056
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, Conjunct... OMIM:601457
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdomina... OMIM:615688
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis... ORPHA:466794
Verrucous Hemangioma
Inflammatory abnormality of the skin, Epidermal acanthosis, Skin plaque, Papilloma, Hemangioma, H... ORPHA:464318
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Indurated nodule, Skin nodule, ... ORPHA:542592
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Short stature, Diffuse alveolar hemo... OMIM:616050
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin... ORPHA:79076
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... ORPHA:779
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, ... ORPHA:79474
Friedreich Ataxia
Optic atrophy, Dystonia, Intention tremor, Urinary bladder sphincter dysfunction, Impaired visual... ORPHA:95
Mogs-Cdg
Respiratory distress, Hypoventilation, Generalized edema, Pulmonary edema, Apnea, External genita... ORPHA:79330
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... OMIM:615559
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... ORPHA:810
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Scaling skin, Ec... ORPHA:36234
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Lissencephaly Syndrome, Norman-Roberts Type
Feeding difficulties, Dysphagia, Atrial septal defect, Intrauterine growth retardation, Hypoplast... ORPHA:89844
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hepatomega... OMIM:618268
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp... OMIM:613385
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... OMIM:613860
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Postnatal growth retardat... ORPHA:79333
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Microscopic Polyangiitis
Sinusitis, Subcutaneous nodule, Uveitis, Gastrointestinal infarctions, Abdominal pain, Vasculitis... ORPHA:727
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... OMIM:603552
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Recurrent skin infections, Short stature, Postnatal growth retardation... OMIM:620210
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Subcutaneous nod... ORPHA:231
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Gastrointestinal dysmotility, Low... ORPHA:363705
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr... OMIM:615983
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Epidermolysis Bullosa Acquisita
Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large in... ORPHA:46487
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso... ORPHA:436159
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... OMIM:618394
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, High, narrow palate, Di... ORPHA:79322
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Diastasis recti, Highly arched eyebrow, Short statur... OMIM:618419
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Abnormal... ORPHA:93473
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Subc... ORPHA:767
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Intention tremor ORPHA:504476
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro... OMIM:619802
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... OMIM:232700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Recurrent candida infe... ORPHA:169160
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Abnormal circulating e... ORPHA:333
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... OMIM:618963
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Bone-marrow foam cells, S... OMIM:607616
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Decreased ci... ORPHA:397596
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Cough, Pleural effu... ORPHA:188
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneum... ORPHA:276
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Th... ORPHA:540
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnorma... ORPHA:974
Sézary Syndrome
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Splenomegaly, Lymphom... ORPHA:3162
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis, Coronary artery atherosclerosis ORPHA:79084
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Cadds
Elevated hepatic transaminase, Intrauterine growth retardation, Cholangitis, Cholestasis ORPHA:369942
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Bardet-Biedl Syndrome 11
Retinopathy, Hypogonadism, Obesity OMIM:615988
Rat-Bite Fever
Lymphadenitis, Vomiting, Scaling skin, Morbilliform rash, Abdominal aseptic abscess, Maculopapula... ORPHA:31205
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Growth dela... ORPHA:541423
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Lysosomal Acid Lipase Deficiency
Precocious atherosclerosis, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated ... ORPHA:275761
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Reduced beta-hexosaminidase activ... OMIM:268800
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Hepatic f... OMIM:602579
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia... ORPHA:809
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatic steatosis, Congestive heart failure, Peritonitis, Esophage... ORPHA:139507
Kaposi Sarcoma
Macule, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Hyperm... ORPHA:33276
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperker... ORPHA:100976
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... ORPHA:57777
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Hepat... OMIM:610717
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Obesity, Cholestasis, Hepat... OMIM:615630
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... OMIM:615010
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Subcutaneous nodule, Skin ulcer, Multi... ORPHA:296
Aicardi-Goutieres Syndrome 5
Chilblains, Feeding difficulties in infancy, Flexion contracture, Scaling skin, Dry skin, Thrombo... OMIM:612952
Congenital Toxoplasmosis
Macule, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardiomegaly, ... ORPHA:858
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Calf muscle hypertrophy, Hypertension, Hepatic fibrosis, Infertility, Oligome... ORPHA:280356
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Hypergonadotropic hyp... OMIM:212065
Acrogeria
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Short stature, Skin ulcer, Fine hair,... ORPHA:2500
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, H... ORPHA:83471
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Acral ulceration, Gastro... ORPHA:90291
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Immunodeficiency 47
Normocytic anemia, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p... OMIM:616576
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... ORPHA:69126
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated... OMIM:269920
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Short stature, Malabsorption, Herpes simplex encephaliti... OMIM:233600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Erythema, Colitis OMIM:219095
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... OMIM:121300
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cough, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction... OMIM:613490
Porphyria Cutanea Tarda
Alopecia, Reduced uroporphyrinogen decarboxylase activity, Onycholysis, Cirrhosis, Hepatocellular... OMIM:176100
Blue Rubber Bleb Nevus
Hypermelanotic macule, Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality ... OMIM:112200
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... OMIM:612444
Lowry-Maclean Syndrome
Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, High, narrow palate, Pylo... ORPHA:2409
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho... ORPHA:67
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Abnor... ORPHA:228119
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Atopic dermatitis, Gr... ORPHA:3240
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumoni... OMIM:150550
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Neoplasm, Palmoplantar keratoderma, Nail dystrophy, ... ORPHA:166113
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Disseminated cutaneous war... ORPHA:90362
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Sudden cardiac death, C... OMIM:201475
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... OMIM:615438
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hepatic failure, H... OMIM:617872
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Severe short stature, Telangiectasia of the skin, Camp... ORPHA:2176
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastroin... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastroin... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastroin... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastroin... ORPHA:881
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe... OMIM:620233
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... ORPHA:98848
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex OMIM:164150
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Preauricular pit, Hepatomegaly,... OMIM:208540
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... OMIM:209950
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Sepsis In Premature Infants
Gastrointestinal dysmotility, Vomiting, Pallor, Neutropenia, Hepatomegaly, Leukocytosis, Bradycar... ORPHA:90051
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... OMIM:619281
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic diarrhea, Chronic ... OMIM:158310
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Pallor, Neutropenia... OMIM:557000
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Chilblain Lupus 1
Raynaud phenomenon, Abnormality of the nail, Chilblains, Skin ulcer OMIM:610448
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Low anterior hairline, Skin vesicle, Hepatomegaly, Neutr... ORPHA:99843
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepa... ORPHA:2072
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Distal amyotrophy, Gastroesop... ORPHA:36386
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Brittle hair, Short stature, Bilateral cryptorchidism, Pyloric st... OMIM:616395
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Dyspnea, Peripheral edema, Pulmonary venous hyperten... ORPHA:75249
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple... OMIM:615631
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic diarrhea OMIM:614699
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Dilatation of the cer... ORPHA:615
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Juvenile Dermatomyositis
Bundle branch block, Myositis, Calcinosis, Alopecia, Abdominal pain, Vasculitis, Skin ulcer, Card... ORPHA:93672
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:605911
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... OMIM:615513
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Ichthyosis With Confetti
Short stature, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Decr... OMIM:609165
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Polyhydramnios, Decreased circulating antibody level OMIM:616873
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... OMIM:308240
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestin... ORPHA:48104
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive OMIM:230350
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Failure to thrive, Cardiomegaly, Ac... ORPHA:14
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... ORPHA:247768
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Malabso... ORPHA:3452
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Opisthotonus, Growth dela... OMIM:252160
Acral Peeling Skin Syndrome
Macule, Eczema, Erythema, Scaling skin, Skin erosion, Papule, Excessive wrinkling of palmar skin ORPHA:263534
Zellweger Syndrome
Hepatomegaly, Failure to thrive, Ventricular septal defect, Hypospadias, Short stature, Malabsorp... ORPHA:912
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Pancreat... ORPHA:99889
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Growth delay, ... OMIM:615704
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Hepatic steatosis, Premature coronary artery atherosclerosis OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cachexia, Skin ulcer, Dermal atrophy, Atherosclerosis ORPHA:2047
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Chronic ... ORPHA:699
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Short stature ORPHA:417
Acquired Purpura Fulminans
Macule, Erythematous macule, Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Pro... ORPHA:49566
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism OMIM:611721
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Fg Syndrome Type 1
Sacral dimple, Progressive flexion contractures, Hypospadias, Facial wrinkling, Abnormal large in... ORPHA:93932
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Woolly hair, ... OMIM:605676
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Dermatomyositis
Abnormal eosinophil morphology, Myocardial infarction, Feeding difficulties in infancy, Inflammat... ORPHA:221
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Skin ulcer, Telangiectasia, Hyperkeratosis, Inter... ORPHA:454831
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypo... ORPHA:110
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... OMIM:618523
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... ORPHA:86884
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Vomiting, Alopecia, Short stature, Abdominal pain, Delayed puberty, Eleva... OMIM:212750
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Poor appetite, Gastrointestinal dysmotility, Ragged-red muscle fibers, Gas... ORPHA:298
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism, Fine hair, Feeding difficulties, Chronic constipation, Frontal ... OMIM:300406
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph... OMIM:609981
Plague
Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o... ORPHA:707
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity, Cardiomegaly ORPHA:88643
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Synophrys, Flexion contracture, Facial erythema, Knee ... OMIM:619503
Immunodeficiency 85 And Autoimmunity
Tube feeding, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthr... OMIM:619510
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec... OMIM:617294
Recon Progeroid Syndrome
Skeletal muscle atrophy, Short stature, Thrombocytopenia, Hyperconvex thumb nails, Absent lower e... OMIM:620370
Kikuchi-Fujimoto Disease
Erythematous macule, Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropeni... ORPHA:50918
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, C... ORPHA:312
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaund... OMIM:601847
Hajdu-Cheney Syndrome
Hepatomegaly, Failure to thrive, Mitral stenosis, Ventricular septal defect, Intestinal malrotati... ORPHA:955
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Myel... ORPHA:486
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Inflammation of the large intestine, Neop... ORPHA:3243
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Xanthomatosis, Hepatic steatosis, Generalized hirsutism, Hepatomegaly, Calf muscle ... ORPHA:79083
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Small for gestational age, Long eye... OMIM:275400
Lupus Erythematosus Tumidus
Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Erythematous plaque, Annular... ORPHA:90283
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Incre... OMIM:261750
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Failure to thrive, Splenomegaly, Chronic diarrhea, Aplasia of th... OMIM:612132
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Chronic diarrhea, Periportal fibrosis, E... OMIM:619484
Bardet-Biedl Syndrome 1
Decreased testicular size, Aganglionic megacolon, High, narrow palate, Biliary tract abnormality,... OMIM:209900
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... ORPHA:3032
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o... ORPHA:79230
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, I... OMIM:231100
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma OMIM:270300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... ORPHA:1008
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Neonatal death, Atrial septal defect, Diaphragmatic eventration,... OMIM:601186
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Increased circulating IgG level, I... OMIM:619220
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal hair morphology, Paronychia, Lymphoma, S... ORPHA:2314
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis ORPHA:664
Leprosy
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epist... ORPHA:548
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, ... ORPHA:904
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Cholesteryl Ester Storage Disease
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure ORPHA:75234
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Immunodeficiency 36 With Lymphoproliferation
Short stature, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis,... OMIM:616005
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Increased circulating interleukin 6 concentration,... ORPHA:158061
Proteus Syndrome
Epidermal nevus, Epidermal acanthosis, Splenomegaly, Multiple lipomas, Hyperkeratosis, Nevus, Lip... OMIM:176920
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Williams-Beuren Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Pre... OMIM:194050
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, Growth del... OMIM:301078
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Conjunctivitis, Neutro... OMIM:616740
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma OMIM:146590
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, C... OMIM:615084
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Skin vesicle, Naus... ORPHA:99921
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomega... ORPHA:3226
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Simple Cryoglobulinemia
Myocardial infarction, Acral ulceration, Nephritis, Membranoproliferative glomerulonephritis, B-c... ORPHA:91139
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous... OMIM:607602
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pustule, Hematological neoplasm, Erythema, Crusting erythe... ORPHA:79481
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Splenomegaly, Cong... ORPHA:2348
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Dystrophic fingernails, Papule,... ORPHA:2907
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... ORPHA:85450
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Abnormal saliva... ORPHA:90340
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni... OMIM:619488
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... OMIM:147060
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice ORPHA:446
Koolen-De Vries Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, High palate, Atrial septal defect, Short ... OMIM:610443
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Vascular calcific... OMIM:231000
Incontinentia Pigmenti
Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,... ORPHA:464
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hyperten... ORPHA:465508
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Chei... OMIM:616295
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... OMIM:617006
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona... OMIM:214900
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Papule, Abdominal pain, Vasculitis... ORPHA:900
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Eosinophilia, Keratitis, Orchitis, Retroperitoneal fibrosis, Lymphoma, Th... ORPHA:449563
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Abnormal in... OMIM:619079
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... ORPHA:309108
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous... OMIM:101900
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis l... OMIM:256810
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Stevens-Johnson Syndrome
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Conjunctivitis, Macule,... ORPHA:36426
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Growth delay, Inflammatio... OMIM:615767
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Obe... OMIM:615993
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Precocious puberty, Pyloric stenosis, Cryptorchidism, P... ORPHA:96184
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Chronic diarrhea, Micropenis, Red... OMIM:300953
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Immunodeficiency 12
Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,... OMIM:615468
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Female hypogonadism, Premature ovarian in... OMIM:240300
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Diamond-Blackfan Anemia 21
Aortic regurgitation, Short stature, Secundum atrial septal defect, Erythroid hypoplasia, Synophr... OMIM:620072
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis ORPHA:26792
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Gastroesophageal reflux,... ORPHA:98892
Aplasia Cutis Congenita
Prolonged bleeding time, Facial palsy, Congenital localized absence of skin, Skin ulcer, Aplasia ... ORPHA:1114
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Hepatic fibrosi... ORPHA:247585
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Rectal prolapse, Gastroesophageal reflux, Vomiting, Ecchymosis, Nausea, Prolonged... ORPHA:287
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Cystic Echinococcosis
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Elevated gamma... ORPHA:400
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Inf... ORPHA:1304
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion contracture, Abnormal hea... OMIM:263210
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis, Short stature, Premature ovarian insufficiency ORPHA:3156
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hyperkeratos... OMIM:301220
Spinocerebellar Ataxia 6
Vertigo, Abnormal vestibulo-ocular reflex, Intention tremor OMIM:183086
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Johanson-Blizzard Syndrome
Alopecia, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal hair pattern, Malabsorption, F... ORPHA:2315
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level... OMIM:619573
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic... ORPHA:83617
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Distal amyotrophy, Acral ulceration, Skin ulcer ORPHA:139578
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Spinocerebellar Ataxia 27A
Abnormal vestibulo-ocular reflex, Postural tremor OMIM:193003
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer, Squamous cell c... ORPHA:409
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,... ORPHA:3261
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Failure to thrive, Sinusitis, Female hypogonadism, Shor... OMIM:208900
1P36 Deletion Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of t... ORPHA:1606
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lym... OMIM:102700
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Cor pulmon... OMIM:300755
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Intrinsic hand muscle atrophy, Acral ulceration, Distal lower limb muscle weakness... OMIM:614213
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Rod-cone dystroph... OMIM:615982
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Oropharyngeal squamous cell carcinoma, T... ORPHA:391487
Limited Cutaneous Systemic Sclerosis
Nausea and vomiting, Telangiectasia of the skin, Foot joint contracture, Hypopigmented skin patch... ORPHA:220402
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Diarrhea, Asymmetric septal hypertrophy, Coa... OMIM:252920
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Abdominal pain, Elbow flexion contracture, Knee flexi... OMIM:616809
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal... OMIM:243800
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ... ORPHA:141152
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Diarrhea, T lym... OMIM:619313
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp... OMIM:226700
Bardet-Biedl Syndrome 18
Renal insufficiency, Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Rod-cone dystrophy OMIM:615995
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Cystic Fibrosis
Elevated hepatic transaminase, Sinusitis, Absent vas deferens, Meconium ileus, Malabsorption, Rec... ORPHA:586
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... OMIM:259720
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Esophageal stricture, Pterygi... OMIM:224230
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Reduced delayed ... OMIM:603909
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin OMIM:617571
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair ORPHA:2574
Usher Syndrome
Abnormal vestibular function, Abnormality of retinal pigmentation, Sensorineural hearing impairme... ORPHA:886
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections, Low neutrophil alkalin... OMIM:245480
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Facial palsy, Salivary gland neoplasm, Skin-colored papule, Skin nodule,... ORPHA:79493
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Anorectal anomaly, Low anterior hairline, Neoplasm, Hemolytic anemia, Sh... ORPHA:647
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... OMIM:604536
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Subcutaneous nodule, Tubulointerstitial nephritis, Ga... ORPHA:183
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bro... OMIM:242700
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Portal fibrosis, Hepati... OMIM:619111
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Mednik Syndrome
Jejunal atresia, Diarrhea, Erythema, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neon... OMIM:609313
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Highly arched... OMIM:619005
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Supernumerary ... ORPHA:457279
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m... ORPHA:79397
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Cryptorchidism, Obesity, Displac... ORPHA:2377
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Atopic dermatitis, Pulmonic stenosis, Camptodactyly,... OMIM:614262
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Immunodeficiency 15B
Chronic diarrhea, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural kille... OMIM:615592
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Short stature, High palate, Intrauterine growth retardation... ORPHA:50812
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Anal fissure, Perianal abscess, Lymp... OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... OMIM:618048
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Q Fever
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... ORPHA:781
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, R... OMIM:618282
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Postauricular pit, T lymphocyto... OMIM:619381
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Cle... ORPHA:2890
Neonatal Lupus Erythematosus
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... ORPHA:398124
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Heart block, Abnormal epidermal morphology, Erythema, Periauricu... ORPHA:79100
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Dry skin, Feeding difficulties, Hyperkeratosis, Scaling skin, Erythroderma, ... OMIM:609180
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarr... OMIM:260920
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Short stature, Decreased heart rate variability... OMIM:619004
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Lymphedema, Increased circulating IgA level, Reduced natural killer cell ac... OMIM:300291
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Increased circulating interleukin 6 concentr... ORPHA:340
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Ileal ulcer, Lymphopenia,... OMIM:616744
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... ORPHA:71526
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100082
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... OMIM:620282
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Spleno... OMIM:602347
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hepatic steatosis, Polycystic ovaries OMIM:608709
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Pruritus, Splenomeg... OMIM:211600
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Ascites, Hepatic fail... ORPHA:75233
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Gastroesophageal reflux, Chronic otitis me... ORPHA:261494
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Facial capillary hemangioma, Gastrointestinal dysmotility, Gastroes... OMIM:270400
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pat... ORPHA:3051
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Neoplasm, Gastroesophageal ref... ORPHA:2959
Opitz-Kaveggia Syndrome
Skin tags, Multiple joint contractures, Anteriorly placed anus, Sparse hair, Hypospadias, Short s... OMIM:305450
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Koolen-De Vries Syndrome
Hypopigmentation of hair, Bicuspid aortic valve, Hypospadias, Short stature, Abnormality of hair ... ORPHA:96169
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Eosinoph... ORPHA:139402
Dubowitz Syndrome
Aplastic anemia, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Otitis me... OMIM:223370
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90158
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Lynch Syndrome
Flexion contracture, Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of... ORPHA:144
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Short stature, Elevat... OMIM:257200
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Melanocyt... OMIM:203300
H Syndrome
Microcytic anemia, Micropenis, Alopecia, Psoriasiform dermatitis, Short stature, Bronchiectasis, ... ORPHA:168569
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Dyspareunia, Telangiectasia of the skin, Malabsorption, Congestive heart fai... ORPHA:220393
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunct... ORPHA:3392
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Japanese Encephalitis
Respiratory distress, Irregular respiration, Meningitis, Increased circulating IgM level, Increas... ORPHA:79139
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Thrombocytopenia, Subcutaneou... ORPHA:69077
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Feeding diff... OMIM:251880
Senior-Loken Syndrome 9
Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism, Hepatic fibrosis OMIM:616629
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypoce... ORPHA:391
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkerat... ORPHA:79395
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Verrucous papule, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Prostate ... ORPHA:79501
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Neoplasm of the lung, Melanoma, P... ORPHA:659
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism, Intrauterine growth retardation OMIM:608540
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom... ORPHA:93476
Restrictive Dermopathy 2
Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Camptodactyly of finger, Hypopigmented skin patches, Palmoplantar... ORPHA:2251
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Bardet-Biedl Syndrome 14
Renal insufficiency, Rod-cone dystrophy, Obesity OMIM:615991
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
Cocaine Intoxication
Respiratory distress, Elevated circulating creatine kinase concentration, Glomerulonephritis, Dif... ORPHA:90068
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... OMIM:300991
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Grow... OMIM:613561
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Abnormal tongue morphology, Recurrent pneu... ORPHA:158668
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Cutis laxa, Fin... OMIM:614438
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Short uvula, Cleft palate, Fine hair, High palate, Hepatic fibrosis, ... OMIM:614091
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased ci... ORPHA:331206
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... ORPHA:36238
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Joint contracture, Dry skin, Limb hypertonia OMIM:614457
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Thrombocytopenia, Patent ductus a... ORPHA:290
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Cryptorchidism, Growth delay, Long eyelashes, Hypogonadism, ... ORPHA:3363
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Subcutaneous... ORPHA:47612
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Epidermal acanthosis, Failure to ... OMIM:617388
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Abnormal fingernail morp... ORPHA:3138
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Purine Nucleoside Phosphorylase Deficiency
Neoplasm, Sensorineural hearing impairment, Decreased urinary urate ORPHA:760
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Macule, Hypermelanotic macule, Abdominal ... ORPHA:32960
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... ORPHA:83469
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, ... ORPHA:98849
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyp... ORPHA:494
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis, Neoplasm, Dys... ORPHA:64744
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Perianal erythema, Short stature, Poor appetite, Splenomegaly, P... OMIM:201100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Short statur... ORPHA:79259
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Atrichia, Periungual erythema, Atrial septal defect, Neonatal death, Dystrophic fin... OMIM:308205
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Nephritis, Alopecia, Abdominal pain, Pericardial effusion, Raynau... ORPHA:93552
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d... ORPHA:100075
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Rotor Syndrome
Pruritus, Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Xerostomia, Abnormal pancreas morphology, Ab... ORPHA:449432
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Atherosclerosis, Lymphadenopathy ORPHA:79292
Arterial Tortuosity Syndrome
Redundant skin, Myocardial infarction, Gastroesophageal reflux, Hiatus hernia, Pulmonary artery s... ORPHA:3342
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, P... OMIM:615577
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Facial palsy, Pyloric stenosis, Cryptorchidism, Flexion contractur... OMIM:310400
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hepatic steatosi... OMIM:203800
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Splenomegaly, Jaundice,... ORPHA:549
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Palmoplantar keratoderma, Conjunctivitis,... OMIM:242150
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... OMIM:619064
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hep... ORPHA:186
Alg9-Cdg
Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... ORPHA:79328
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Es... OMIM:263200
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Cherry red spot of the macula, Arthritis, Lipogranulomatosis, Failure... OMIM:228000
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis ORPHA:436182
Gm1 Gangliosidosis
Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneumonia, Infectious ... ORPHA:354
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Squamous cell carcinoma, Alopecia o... OMIM:618373
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Alopecia, Subcutaneous nodule, Anemia ORPHA:337
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Failure to thrive in infancy, Short stat... ORPHA:96149
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypopituitar... OMIM:619013
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat... OMIM:617093
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Jaundice, Sepsis, Meningitis ORPHA:464370
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperker... ORPHA:79148
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... ORPHA:209902
Pachyonychia Congenita
Alopecia, Epidermoid cyst, Angular cheilitis, Steatocystoma multiplex, Paronychia, Onychogryposis... ORPHA:2309
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal ... OMIM:311200
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated gamma-glutamyltransferase lev... ORPHA:100085
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a... ORPHA:264675
Esophageal Atresia
Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophagea... ORPHA:1199
Distal Deletion 3P
Low-set, posteriorly rotated ears, Short stature, Intrauterine growth retardation, Abnormal vesti... ORPHA:1620
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Thrombocytopenia, Stroke, Neutropenia, Failure to thrive, Pancreatiti... ORPHA:79312
Zttk Syndrome
Aortic regurgitation, Curly hair, Absent gallbladder, Ventricular septal defect, Short stature, S... OMIM:617140
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... OMIM:610333
Restrictive Dermopathy
Multiple joint contractures, Scaling skin, Atrial septal defect, Sparse hair, Hypospadias, Sparse... ORPHA:1662
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Redundant neck skin, Short stature, Eczema, Rectal prolapse, Obesity, Feeding diff... OMIM:617157
Jacobsen Syndrome
Feeding difficulties in infancy, Abnormality of the anus, Short stature, Cryptorchidism, Constipa... ORPHA:2308
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Ab... ORPHA:1657
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Abnormality of the l... ORPHA:618
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal pulmona... ORPHA:580
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Dia... ORPHA:42
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Highly arched eyebrow, Portal hypertension, Feeding ... ORPHA:1454
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Thrombocytopenia, Cryptorchidism, Abdominal distention, Diarrhea... OMIM:608104
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... ORPHA:2985
Congenital Factor Xii Deficiency
Retinal arteriolar occlusion, Penetrating foot ulcers ORPHA:330
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, High, narrow palate, Synophrys, High palate, Gastroesophageal re... OMIM:122470
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Anorexia, Poor appetite, Peritoneal abscess, Pancreatic adenocarci... ORPHA:1333
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ... ORPHA:436252
Costello Syndrome
Redundant neck skin, High palate, Sparse hair, Atrial septal defect, Lymphangiectasis, Deep-set n... OMIM:218040
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconju... ORPHA:1806
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Redundant neck skin, Rhizomelia, Diarrhea, Weight loss, Severe... ORPHA:1842
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Severe short stature, Abnormal eyelash morphology, Abnormal hair morphology, Subcut... ORPHA:2526
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Microlissencephaly
Pneumonia ORPHA:1083
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... ORPHA:1332
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Small for ges... OMIM:224120
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Pulmonary edema OMIM:105210
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, External genital hypoplasia, Short stature... ORPHA:1867
Kawasaki Disease
Abnormality of nail color, Conjunctivitis, Cholecystitis, Abdominal pain, Leukocytosis, Vasculiti... ORPHA:2331
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ort... OMIM:607936
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia OMIM:614575
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Short stature ORPHA:2204
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Trisomy 18P
Short stature, Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, High, narrow palate... ORPHA:1715
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Mild postnatal growth retardation, Ca... ORPHA:2136
Immunodeficiency 9
Chronic diarrhea, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, ... OMIM:612782
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Typhoid
Macule, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdomina... ORPHA:99745
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Severe short stature, Abnormal heart valve mor... OMIM:309900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Squamous cell carcinoma, Skin vesicle, Abnormal toenail morphology... ORPHA:79410
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Chronic diarrhea, Intrauteri... OMIM:616355
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight ORPHA:890
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... ORPHA:3464
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, S... OMIM:617591
L-Ferritin Deficiency
Alopecia OMIM:615604
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, In... ORPHA:99776
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:607765
Mulibrey Nanism
Hepatomegaly, Short stature, Nephroblastoma, Cardiomegaly, Congestive heart failure, Myocardial f... OMIM:253250
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Feeding difficulties in infancy,... OMIM:617137
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hyperconvex nail, Highly arched eyebrow, Cleft palate, Abnormal heart morp... OMIM:239300
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Rheumatic Fever
Macule, Nausea and vomiting, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis,... ORPHA:3099
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Facial palsy, Chronic diarrhea, Neuroendocrine neoplasm, C... ORPHA:100084
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Coloboma, Hypogonadism, Delayed puberty ORPHA:141333
Hellp Syndrome
Elevated hepatic transaminase, Generalized edema, Increased circulating lactate dehydrogenase con... ORPHA:244242
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Abnormal fallopian tube morphology,... ORPHA:1655
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Short stature, Asplenia, Thrombocytopeni... OMIM:185070
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Pneumonia, Abdominal pai... ORPHA:420741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eczema, E... OMIM:616651
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, ... OMIM:175500
Cushing Disease
Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cut... ORPHA:96253
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Dextrocardia, Postnatal growth retardation, High, narrow pala... OMIM:248700
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
2Q37 Microdeletion Syndrome
Sparse scalp hair, Short stature, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eye... ORPHA:1001
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy OMIM:136300
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Severe short statu... ORPHA:3242
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia ORPHA:50251
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Colitis, Recurrent pancreatitis, Failure to thriv... OMIM:615947
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... OMIM:615190
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Primary Ciliary Dyskinesia
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Ab... ORPHA:244
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Diarrhea, Asymmetric septal hypertrophy, Coarse hair, Dysp... OMIM:252930
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypopla... ORPHA:100
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... OMIM:612281
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Patent ductus arteriosus, Abnormal vagina morphology, Anemia, Ascites, Thrombocytop... ORPHA:2123
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... OMIM:207900
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... ORPHA:163596
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Portal h... ORPHA:367
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukope... OMIM:301080
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... OMIM:620133
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck... ORPHA:79332
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Micropenis, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Cortisone Reductase Deficiency 1
Alopecia, Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Kindler Epidermolysis Bullosa
Flexion contracture, Squamous cell carcinoma, Inflammation of the large intestine, Colitis, Conju... ORPHA:2908
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... ORPHA:466677
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, De... OMIM:232220
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Increased circulating lactate dehydrogenase concentration, Epista... OMIM:614034
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Flexion contracture, Malnutri... OMIM:226600
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy,... OMIM:617406
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting ORPHA:33402
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Vasculitis, Uveitis, Arthriti... ORPHA:575
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p... OMIM:619472
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic failur... OMIM:608013
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Achilles tendon c... OMIM:616263
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Bladder neoplasm, Inflammation of the large intestine, Papule ORPHA:46488
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Chondritis, Macule, Alo... ORPHA:728
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia OMIM:188025
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Growth delay, Pyoderma, Colitis, Cro... OMIM:613148
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Chime Syndrome
Ventricular septal defect, Erythema, Pulmonary valve atresia, Skin ulcer, Fine hair, Cleft palate... ORPHA:3474
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Oral-pharyngeal dysphagia, Anorexi... ORPHA:100083
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Recurrent enteroviral infections... ORPHA:79124
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Aplasia/Hypoplasia of the skin, Abdominal pain, Splenomegaly, ... ORPHA:33577
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding difficulties in infancy, Conge... OMIM:618654
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc... OMIM:603554
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Preauricular pit, Alopecia, Short stature, Hyperpigmented papule, Flexion contracture, Mitral reg... ORPHA:88630
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, E... ORPHA:343
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Shor... OMIM:614294
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal cand... OMIM:614162
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... ORPHA:980
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Premature graying ... OMIM:256040
Scrub Typhus
Macule, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Myocarditis, Splenomega... ORPHA:83317
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Meno... ORPHA:331
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Atrial septal defect, Short stature, Facial palsy, ... OMIM:615873
Satoyoshi Syndrome
Alopecia, Short stature, Malabsorption, Diarrhea, Skeletal muscle hypertrophy, Hypoplasia of the ... OMIM:600705
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Dysmenorrhea, Precocious atherosclerosis, Premature graying of hair,... ORPHA:280365
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocyto... OMIM:618108
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Stroke-like episode, Decreased liver function, Failure t... ORPHA:70472
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Abdom... ORPHA:163746
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Failure to thrive, Intestinal malrotation, Hiatus ... ORPHA:2538
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... OMIM:619991
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Mpdu1-Cdg
Abnormal circulating enzyme concentration or activity, Eczema, Feeding difficulties, Erythematous... ORPHA:79323
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Failure to thrive, Sparse eyebr... OMIM:610768
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... ORPHA:793
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Prominent superficial veins, Precocious puberty i... ORPHA:528
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystr... OMIM:205400
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Meningitis, Uveiti... ORPHA:36412
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura ORPHA:743
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diff... OMIM:253260
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Acantholysis, Absent eyelashes, Cleft palate, Cardiomyopathy, Hypov... ORPHA:158687
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Epispadias, Abnormal fallopian tube morphology, Abnormality of t... ORPHA:2556
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss ORPHA:2023
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Short stature, Elevated circulating aspartate aminotransfe... OMIM:608779
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperker... OMIM:612379
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast... OMIM:619534
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retina... OMIM:615981
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, A... ORPHA:79239
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Iridocyclitis, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Dysphagia,... ORPHA:412057
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Short nail, Slow-growing hair, Thin nail, Malformation of th... OMIM:218330
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613808
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Lymphoma,... ORPHA:545
Coffin-Lowry Syndrome
Short stature, Highly arched eyebrow, Rectal prolapse, Narrow palate, Cutis laxa, Hyperconvex fin... OMIM:303600
Combined Immunodeficiency Due To Crac Channel Dysfunction
Anhidrosis, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Re... ORPHA:169090
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Subcutaneous nodule, Infectious en... ORPHA:117
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Peeling Skin Syndrome 6
Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Buerger Disease
Vasculitis, Skin ulcer ORPHA:36258
Bloom Syndrome
Poor appetite, Paronychia, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Ot... ORPHA:125
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Feeding difficulties in i... OMIM:225750
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Skin ulcer, Rec... OMIM:116920
Nephronophthisis 15
Elevated hepatic transaminase, Retinal degeneration, Obesity, Nephronophthisis OMIM:614845
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Short stature, Pyloric stenosis, Cryptorch... OMIM:619148
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pustule, Ulcerative colitis, A... ORPHA:555905
Congenital Factor Vii Deficiency
Intracranial hemorrhage, Ovarian cyst, Menorrhagia ORPHA:327
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morp... ORPHA:2357
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezin... OMIM:613807
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exanthe... ORPHA:319213
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l... OMIM:616924
Marshall-Smith Syndrome
Brittle hair, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, High pal... OMIM:602535
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Premature coronary artery atherosclerosis OMIM:608320
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune throm... ORPHA:227990
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Cryptorchidism, Feeding difficulties in infancy, Flexion contracture, ... ORPHA:500055
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Fine hair, Nail pits, ... ORPHA:978
Adams-Oliver Syndrome 5
Hypoplastic toenails, Splenomegaly, Portal vein thrombosis, Hypersplenism, Esophageal varix, Cave... OMIM:616028
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Vasculitis, ... OMIM:617099
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Synophrys, Diarrhea, Asymmetric septal hypertrophy, Coarse hair, Hirs... OMIM:252900
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... ORPHA:99827
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... OMIM:607361
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... ORPHA:85443
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Dowling-Degos Disease 4
Epidermal acanthosis, Papule OMIM:615696
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... OMIM:613662
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Erythroderma, Orth... OMIM:604777
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Abnormal eyelash morphology, Pyloric stenosis, Cryptorchi... OMIM:147791
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper respiratory t... OMIM:619752
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Craniofacial Dyssynostosis With Short Stature
Short stature, Ventricular septal defect, Hypospadias, Pyloric stenosis, Cryptorchidism OMIM:218350
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Dysphagia ORPHA:77260
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia OMIM:620296
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Macs Syndrome
Prolonged bleeding time, Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Short stature,... OMIM:613075
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Short stature ORPHA:300536
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Pustule, Recurrent pneumonia, Secretory diarrhea, Coarctation of aorta, Hyp... OMIM:616069
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy OMIM:617119
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Weight loss, ... ORPHA:324964
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, ... ORPHA:1010
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... ORPHA:99931
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Flexion contracture, ... ORPHA:2850
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Subcutaneous nodule, Gastroesophageal ref... ORPHA:2092
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Respiratory t... ORPHA:31202
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Carney Complex
Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Hepatocellular carcinoma, Increa... ORPHA:1359
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... OMIM:235555
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right... ORPHA:97287
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... ORPHA:544482
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune throm... ORPHA:227982
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Numerous nevi, Penile freckling, Hurthle cell thyroid adenoma, Multiple lip... ORPHA:210548
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin... OMIM:615816
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Facial erythema, Squamous cell carcinoma, Vomiting, Neutropenia, Sparse hair, Ca... ORPHA:221008
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Facial capillary hemangioma, Feeding diffic... ORPHA:818
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Splenomeg... OMIM:235255
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Cardiomyopat... OMIM:604250
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... ORPHA:99867
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left ventricular ejection f... OMIM:614096
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Abnormal ... ORPHA:261197
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Cat Eye Syndrome
Preauricular pit, Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malro... OMIM:115470
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... OMIM:617091
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hyperkeratosi... ORPHA:1839
Boutonneuse Fever
Macule, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Nausea, Abdominal pain... ORPHA:83313
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... OMIM:613179
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, ... OMIM:261740
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Failure to thrive, Ventricular septal defect, Hypospadias, Supernumerary nipple, C... ORPHA:217346
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Generalized hirsutism, Skin ulcer ORPHA:2218
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Large for gestational age, Sple... OMIM:605309
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... ORPHA:2968
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Listeriosis
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ... ORPHA:533
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Pigmentary reti... OMIM:605231
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Dextrocardia, Asplenia, Situs inversus totalis, Recurrent otitis media OMIM:618948
Lipodystrophy, Familial Partial, Type 4
Stroke, Hepatic steatosis OMIM:613877
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... ORPHA:29207
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Short stature, Micronodular cirrhosis, Obe... ORPHA:98907
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, High, narrow palate, Pyloric s... ORPHA:435638
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... OMIM:127550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic... OMIM:606812
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Cardiomegaly OMIM:613576
Peripheral Primitive Neuroectodermal Tumor
Brain neoplasm, Anorexia, Lower limb muscle weakness, Precocious puberty, Episodic abdominal pain... ORPHA:370348
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Cryptorchidism, Congenital pyloric atresia, Low pos... ORPHA:2617
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk... OMIM:620148
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Limb joint contracture, Hypospadias, Absent eyelashes, Sparse eyebr... OMIM:275210
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Premature ovarian insufficiency, High anterior hairline, Endometriosis OMIM:613680
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... OMIM:617765
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p... OMIM:617443
Porphyria Variegata
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Tachycardia, Abnormal cir... ORPHA:79473
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hepatomegaly... OMIM:615846
Babesiosis
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... ORPHA:108
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Azoospermia, Interrupted i... OMIM:618300
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Clitoral hypertrophy, Hepatosplenomegaly ORPHA:313855
Oculocerebrorenal Syndrome Of Lowe
Feeding difficulties in infancy, Periodontitis, Gastroesophageal reflux, Chronic otitis media, Sh... ORPHA:534
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Splenomegaly OMIM:306000
Rapp-Hodgkin Syndrome
Sparse hair, Bifid uvula, Hypospadias, Short stature, Sparse eyebrow, Small nail, Sparse eyelashe... OMIM:129400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, ... ORPHA:261330
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Petechiae, Feeding difficulties OMIM:602473
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Ventricular septal defect, Feeding difficulties, Growth delay, High pala... OMIM:619762
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,... OMIM:210900
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectase... ORPHA:576
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Recurrent skin... ORPHA:79396
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Eczema, Hypospadias... ORPHA:464306
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... OMIM:619461
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Ethylene Glycol Poisoning
Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ed... ORPHA:31826
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Le... OMIM:249100
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Galactosemia I
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... OMIM:620045
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis OMIM:618801
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypog... ORPHA:281090
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Failure to thrive, Severe short stature, Facial palsy, Absent eyelashes... ORPHA:2316
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk... ORPHA:292
Rothmund-Thomson Syndrome
Aplastic anemia, Nasogastric tube feeding in infancy, Squamous cell carcinoma, Vomiting, Neutrope... ORPHA:2909
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Hemolytic anemia, Short stature, Splenomegaly, Jaundice, ... OMIM:263700
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Ogden Syndrome
Apnea, Eczema, Lymphedema, Cryptorchidism, Pulmonary artery stenosis, Jaundice, Oligohydramnios, ... OMIM:300855
Meckel Syndrome 14
Tricuspid regurgitation, Abdominal distention, Mitral regurgitation, Hepatic fibrosis, Aplasia of... OMIM:619879
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ankle flexion contracture, Splenomegaly, High, narro... OMIM:608799
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Recurrent pneumonia OMIM:615637
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Osteomyelitis, Acne, Peptic ul... ORPHA:2796
Fanconi Anemia, Complementation Group O
Short stature, External genital hypoplasia, Cryptorchidism, Rectal atresia, Abnormal heart morpho... OMIM:613390
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dy... ORPHA:363741
Schöpf-Schulz-Passarge Syndrome
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Palmoplantar keratoder... ORPHA:50944
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Flexion contracture, Cleft palate, Severe failure to ... OMIM:215100
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, Feeding difficulties in infancy, Malnutrition, High palate, Pol... OMIM:612776
Bardet-Biedl Syndrome 8
Hypogonadism, Rod-cone dystrophy, Hypospadias, Obesity OMIM:615985
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Neutropenia, ... ORPHA:506
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer OMIM:604571
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... OMIM:612843
Poikiloderma With Neutropenia
Leukopenia, Conjunctivitis, Neutropenia, Short stature, Sparse eyebrow, Increased circulating lac... OMIM:604173
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Striae distensae, Acne, Pituitary adenoma, Irregular menstruation, Increased body weigh... ORPHA:189427
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, O... ORPHA:581
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, ... ORPHA:1133
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Anemia, Panniculitis, Cystic acne, Small ... OMIM:608068
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Myocarditis, ... ORPHA:206569
Chylomicron Retention Disease
Elevated hepatic transaminase, Acanthocytosis, Growth delay, Increased hepatocellular lipid dropl... ORPHA:71
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Hypoplastic toenails, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Der... ORPHA:163525
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Facial erythema, Squamous cell carcinoma, High palate, Vomiting, Neutropenia, Sp... ORPHA:221016
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipat... ORPHA:85447
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Chédiak-Higashi Syndrome
Edema, Recurrent staphylococcal infections, Periodontitis, Pericardial effusion, Recurrent strept... ORPHA:167
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... OMIM:242300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, ... OMIM:263520
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive, Projectile vomiting OMIM:179010
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye s... ORPHA:20
Carcinoid Syndrome
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Chronic noninfectiou... ORPHA:100093
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal... OMIM:137940
Coccidioidomycosis
Urticarial plaque, Abnormality of the spleen, Verrucous papule, Abnormality of the liver, Morbill... ORPHA:228123
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Immunoglobulin A Vasculitis
Macule, Episcleritis, Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Anorexia, Abdo... ORPHA:761
Lipodystrophy, Familial Partial, Type 3
Prominent superficial veins, Hepatic steatosis, Cirrhosis, Polycystic ovaries OMIM:604367
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Thick eyebrow, Short stature, Splenomegaly, Synophrys, Achilles tendon contracture,... OMIM:252940
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate, Short stature ORPHA:314575
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Patent ductus arteriosus, Incr... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Hypoplastic toenails, Feeding difficulties in infancy, Increased muscle lipid conte... OMIM:608836
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Premature graying of hair, Abnormal intrahepatic bile duct morphology, P... ORPHA:363618
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Xeroderma Pigmentosum
Conjunctival telangiectasia, Neoplasm, Papilloma, Macule, Alopecia, Short stature, Hypermelanotic... ORPHA:910
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Intracranial hemorrhage, Nevus flammeus, A... ORPHA:624
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Synophrys,... ORPHA:199
Familial Chylomicronemia Syndrome
Acute pancreatitis, Precocious atherosclerosis, Perianal abscess, Jaundice, Hepatosplenomegaly, R... ORPHA:444490
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Basan Syndrome
Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Flexion co... OMIM:129200
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcino... ORPHA:79409
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Pyloric stenosis, Feeding difficulties OMIM:617219
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Small for gestational ... OMIM:618775
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Cardiofaciocutaneous Syndrome 1
Numerous nevi, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Vomiting, S... OMIM:115150
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Growth... ORPHA:77259
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati... OMIM:208085
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary... OMIM:613193
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Acant... ORPHA:97280
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ascites, Short stature ORPHA:87876
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Short stature ORPHA:977
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... OMIM:603553
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Hypospadias, Diastasis recti, Large for gestational age, Cryptor... ORPHA:457485
Alg8-Cdg
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Failure to thrive, Smal... ORPHA:79325
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Short stature, Nausea, Protein avoidance, Splenomegaly, Th... OMIM:222700
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Pyloric stenosis, Jaundice, Apla... ORPHA:93111
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... ORPHA:93941
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Occipital Horn Syndrome
Orthostatic hypotension, Redundant skin, Pelvic bone exostoses, Hiatus hernia, Chronic diarrhea, ... OMIM:304150
Dyskeratosis Congenita, X-Linked
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... OMIM:305000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulin... ORPHA:3085
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pa... ORPHA:54251
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... ORPHA:2414
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Short... OMIM:610377
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Splenomegaly, Gingival fibromatosis, Cleft palate, Gro... ORPHA:3473
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Epidermal acanthosis, Skin rash, Neutrophilia, Failure to thrive in ... OMIM:612852
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Abdomi... ORPHA:2070
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Incontinentia Pigmenti
Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu... OMIM:308300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Low anterio... OMIM:618440
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Fucosidosis
Hepatomegaly, Thick eyebrow, Failure to thrive, Short stature, Cardiomegaly, Splenomegaly, Flexio... OMIM:230000
Rothmund-Thomson Syndrome, Type 2
Squamous cell carcinoma, Premature graying of hair, Anteriorly placed anus, High palate, Sparse h... OMIM:268400
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Prolonged QRS complex, Intestinal pseudo-obstruction, Or... ORPHA:273
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Widow's peak, Velopharyngeal insufficiency, Low anterior hair... OMIM:617746
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Res... OMIM:614935
African Trypanosomiasis
Erythematous macule, Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Alopec... ORPHA:3385
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Nausea, Pustule, Subcutaneous nodule, Sk... ORPHA:68
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Gastrointestinal dysmotility, Gastroesophageal reflux, Atrial se... ORPHA:500150
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Micropenis, Hy... ORPHA:268261
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Arthritis,... OMIM:301074
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P... OMIM:243300
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Nausea and vomiti... ORPHA:525731
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Macrocytic anemia, Failure to th... ORPHA:199299
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Growth delay,... ORPHA:79242
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Flexion contracture, Severe short stature OMIM:203550
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... ORPHA:1451
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... ORPHA:103909
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Yunis-Varon Syndrome
Redundant neck skin, Cardiomegaly, High, narrow palate, Glossoptosis, Atrial septal defect, Micro... ORPHA:3472
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Abnormal circulating insulin concentration, ... ORPHA:293964
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Distal lower limb muscle weakness, Skin ulcer OMIM:613640
Bohring-Opitz Syndrome
Cardiomegaly, Feeding difficulties in infancy, Synophrys, Naevus flammeus of the eyelid, Congenit... ORPHA:97297
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Camptodactyly, Hypertrichosis OMIM:616354
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neopla... ORPHA:168816
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Patent ductus arteriosus ORPHA:1338
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... OMIM:615952
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... OMIM:615381
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic... ORPHA:2298
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Foot joint contracture, Facial palsy, Mild postnatal growth reta... ORPHA:456312
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Mycobacterium abscessus abscessus ... ORPHA:411703
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Precocious atherosclerosis, Tendon xanthom... ORPHA:909
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Type IV atherosclerotic lesion, Pe... ORPHA:412
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615984
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema... ORPHA:221139
Laurence-Moon Syndrome
Small scrotum, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis OMIM:245800
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni... OMIM:618280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Short stature, Congest... ORPHA:49827
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Keutel Syndrome
Alopecia, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Dermal atrophy, Re... ORPHA:85202
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Mucolipidosis Ii Alpha/Beta
Brittle hair, Cardiomegaly, Sparse hair, Hepatomegaly, Sparse eyebrow, Cavernous hemangioma, Aort... OMIM:252500
Cold Agglutinin Disease
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy, Pallor ORPHA:56425
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Epistaxis, Anorexia, Mal... ORPHA:79430
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Bresek Syndrome
Alopecia, Aganglionic megacolon, Cryptorchidism, Cleft palate, Growth delay, Neonatal death, Intr... ORPHA:85284
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, External genital hypoplasia, Abnormal hair morphology,... OMIM:242100
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Failure to thr... ORPHA:349
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis, Myopathy OMIM:275630
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Odontoma, Dysphagia, Hepatic failure, Atherosclerosis ORPHA:2724
Parkes Weber Syndrome
Subarachnoid hemorrhage, Hemangiomatosis, High-output congestive heart failure, Skin ulcer, Abnor... ORPHA:90307
Histiocytoid Cardiomyopathy
Cough, Polycystic ovaries, Tachypnea, Pulmonary edema ORPHA:137675
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... ORPHA:550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Interphalangeal joint contracture of finger... ORPHA:2199
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Fine hair, Premature gray... OMIM:613990
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Congestive... ORPHA:48818
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fai... ORPHA:228305
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... ORPHA:99828
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormalit... ORPHA:69735
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Feeding diffic... ORPHA:171876
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, Cryptorchidism, L... OMIM:618143
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Flexion contracture, Lack of ... ORPHA:1979
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea... OMIM:226300
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Myocarditis, Xerostomia, L... ORPHA:81
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal... OMIM:617321
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... ORPHA:3208
Tako-Tsubo Cardiomyopathy
Dyspnea, Pulmonary edema, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide co... ORPHA:66529
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Keratitis, Palmoplantar keratoderma, Erythroderma, Failure to thrive, Ab... ORPHA:79394
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Short stature, Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:607906
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Bifid uvula, Abnormal penis... ORPHA:2461
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sialuria
Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, High palate, Hypopla... OMIM:269921
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... ORPHA:276608
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Stroke, ... OMIM:611126
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulin... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o... ORPHA:324575
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Pili torti, Abnormal testis... ORPHA:202
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... ORPHA:1366
Joubert Syndrome 1
Macroglossia, Hepatic fibrosis, Highly arched eyebrow, Protruding tongue OMIM:213300
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Hyperconvex fingernails, Gastroesophageal reflux, Atrial septal defect, Ap... OMIM:194190
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm, Genital neop... ORPHA:2126
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Cardiomega... ORPHA:308552
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mel... ORPHA:276580
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... ORPHA:85212
Peroxisome Biogenesis Disorder 5A (Zellweger)
Feeding difficulties in infancy, High palate, Elevated gamma-glutamyltransferase level, Atrial se... OMIM:614866
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Alström Syndrome
Hypoplasia of the Leydig cells, Gastroesophageal reflux, Hepatic fibrosis, Otitis media, Elevated... ORPHA:64
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Feeding difficulties in infancy, Cleft palat... OMIM:619123
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... OMIM:265380
Apert Syndrome
Overriding aorta, Ventricular septal defect, Acne, Esophageal atresia, Pyloric stenosis, Cryptorc... OMIM:101200
Singleton-Merten Syndrome 2
Short stature, Psoriasiform lesion, Aortic valve calcification, Hyperkeratosis, Arrhythmia, Aorti... OMIM:616298
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrop... ORPHA:1882
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... OMIM:214950
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Abnormal left ventri... ORPHA:892
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperinsulinemia, Obesity ORPHA:329249
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm, Ascites ORPHA:168811
Knobloch Syndrome
Abnormal hair morphology, Pyloric stenosis, Lymphangioma, Dextrocardia ORPHA:1571
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Microtia, Multiple bladder diverticula, Recurrent otit... ORPHA:2728
Nephroblastoma
Abdominal pain, Lymphadenopathy, Neoplasm of the lung, Hypertension, Neoplasm of the liver, Neopl... ORPHA:654
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Iridocyc... OMIM:181000
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, High palat... OMIM:251290
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Splenomegaly, Congestive hea... OMIM:230500
Branchiooculofacial Syndrome
Postauricular pit, Premature graying of hair, Gastroesophageal reflux, Sparse hair, Ectopic thymu... OMIM:113620
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chron... OMIM:244400
Meckel Syndrome, Type 6
Absent gallbladder, Abnormal internal genitalia, Cleft palate, Cystic liver disease, Bile duct pr... OMIM:612284
Oculocerebrocutaneous Syndrome
Cleft palate, Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism OMIM:164180
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:158048
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Thick eyebrow, Severe short stature, Abnormal heart valve morphology, Diastasis rec... OMIM:253220
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma, Papule ORPHA:493
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph... ORPHA:277
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Generaliz... ORPHA:160
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Interm... OMIM:186580
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, Gastroparesis, Short stature, Splenomegaly, Sy... OMIM:616368
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Short stature, Camptodactyly of finger, Cryptorchidi... ORPHA:263487
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration, Skeletal muscle atrophy OMIM:162400
Addison Disease
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Primary testicular failure, Fail... ORPHA:85138
Gapo Syndrome
Hepatomegaly, Alopecia, Epidermoid cyst, Redundant skin, Sparse eyelashes, Facial palsy, Sparse e... OMIM:230740
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Germ cell neoplasia, Sparse axillary hair, Testicular neoplasm, Sparse pu... ORPHA:99429
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair ORPHA:177
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Alopecia, Limb joint contracture, Hypogonadotropic hypogonadism, Short s... OMIM:612079
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Angular cheilitis, Sparse axillary hai... OMIM:613102
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Okamoto Syndrome
Facial hypertrichosis, Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Vent... ORPHA:2729
Sarcoidosis
Heart block, Increased T cell count, Subcutaneous nodule, Ventricular tachycardia, Uveitis, Tubul... ORPHA:797
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit... OMIM:257220
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... OMIM:267010
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... OMIM:275350
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:612387
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Sparse eyelashes, Short stature, Basal cell carcinoma, Melan... OMIM:620040
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Ventricular septal defect, Short stature, Absent eyelashes, Cryptorchid... ORPHA:166035
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Oral-pharyngeal dysphagia, Intrins... OMIM:615273
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation OMIM:618541
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet vol... OMIM:617718
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Abdominal distention, Growth delay, Gastroesophageal... OMIM:256300
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Congenital hepatic fibrosis, Short stature ORPHA:2031
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding diffi... ORPHA:927
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Redundant skin, Congestive heart fai... ORPHA:90349
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Tetralogy of Fallot, Intrauterine growth retardatio... ORPHA:2886
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Glycogen Storage Disease Ic
Hepatomegaly, Hepatoblastoma, Spider hemangioma, Chronic pancreatitis, Cyclic neutropenia, Gout, ... OMIM:232240
Polycythemia Vera
Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell m... OMIM:263300
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organi... OMIM:615518
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Right ventricular dilatation ORPHA:369840
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Rod-cone dystrophy, Obesity OMIM:615633
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... OMIM:611881
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Failure to thrive, Bicuspid aortic valve, Short stature, Highly... OMIM:613563
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i... ORPHA:217563
Turcot Syndrome With Polyposis
Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervo... ORPHA:99818
Classical-Like Ehlers-Danlos Syndrome Type 2
Sacral dimple, Widened atrophic scar, Alopecia, Redundant skin, Carotid artery stenosis, Long uvu... ORPHA:536532
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Autoimmune Polyendocrinopathy Type 2
Alopecia, Celiac disease, Hypopigmented skin patches, Hypogonadism, Hashimoto thyroiditis ORPHA:3143
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Fanconi Anemia
Leukopenia, Abnormality of the liver, Neoplasm, High palate, Abnormality of the uterus, Atrial se... ORPHA:84
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, ... ORPHA:2152
Arima Syndrome
Hepatomegaly, Esophageal varix, Growth delay, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic ... OMIM:243910
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkerato... OMIM:619208
Warty Dyskeratoma
Vulvar neoplasm, Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored ... ORPHA:69745
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoder... OMIM:616029
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Albinism, Decreased CD4:CD... OMIM:608233
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Jaundice, Bile du... OMIM:208500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Postnatal growth retardation, Flexion cont... OMIM:248370
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Atrioventricular block, Anteriorly placed anus, Vomiting, Atrial septal ... ORPHA:26793
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Severe Generalized Junctional Epidermolysis Bullosa
Paronychia, Gastrointestinal inflammation, Squamous cell carcinoma, Vomiting, Abnormality of the ... ORPHA:79404
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal circulating enzyme concentration or ac... ORPHA:2590
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulin... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp... ORPHA:79151
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Postnatal growth retardation, Midgut malrotation, Pyloric stenosis, Cryptor... OMIM:263750
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Malabsorpt... ORPHA:579
Alpha-N-Acetylgalactosaminidase Deficiency
Constipation, Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Monosomy 18P
Alopecia, Short stature, Cleft palate, Low posterior hairline, Hypertension, Webbed neck ORPHA:1598
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Iron deficiency anemia... ORPHA:309031
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Hyperaldosteronism, Pulmonary edema ORPHA:73224
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sacral dimple, Sparse eyelashes, Sparse scalp hair, Large for gestation... ORPHA:544488
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain, Thr... ORPHA:520
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Tetralogy of Fal... ORPHA:3097
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Epidermal nevus, Epidermal acanthosis, Short stature, Erythema, Flexion ... OMIM:308050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Proportionate short ... ORPHA:71212
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... ORPHA:65759
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Localized skin lesion, Erythema... ORPHA:449285
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Tuberculosis
Weight loss ORPHA:3389
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Coar... ORPHA:75389
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, D... ORPHA:36397
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Lip pit, Hamartoma of tongue, Pancreatic c... ORPHA:2750
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Small scrotum, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Bilateral... ORPHA:3253
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Neonatal death, Skin ... OMIM:609638
Menkes Disease
Alopecia, Brittle hair, Short stature, Cutis laxa, Intracranial hemorrhage, Sparse hair, Intraute... OMIM:309400
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Thrombocytopenia, Prolonged QTc interval, Anemia, Malar rash,... ORPHA:231111
Myopathy, Myofibrillar, 1
Facial palsy, Diarrhea, Dilated cardiomyopathy, EMG: myopathic abnormalities, Constipation, Third... OMIM:601419
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Beckwith-Wiedemann Syndrome
Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Feeding... ORPHA:116
Gapo Syndrome
Skin tags, Alopecia, Sparse eyelashes, Dysmenorrhea, Short stature, Sparse eyebrow, Early balding... ORPHA:2067
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Si... ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... ORPHA:79153
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Subcutaneous nodule, Intracranial hemorr... ORPHA:109
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Diaphanospondylodysostosis
Nephroblastomatosis, Disproportionate short-trunk short stature, Cleft palate, Abnormal liver lob... OMIM:608022
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Cerebellar hemorrhage, Failure to thrive, H... ORPHA:99901
Multicentric Reticulohistiocytosis
Arthritis, Skin nodule, Cachexia, Histiocytosis ORPHA:139436
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... ORPHA:2463
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage OMIM:603585
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Smooth tongue, Dystrophic fingernails, Thin n... OMIM:257980
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Alopecia, Sparse eyelashes, Bicuspid aortic valve, Cleft palate, Glossoptosis, ... OMIM:616367
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Enlarged to... OMIM:607014
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic ste... OMIM:212138
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla... ORPHA:129
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Left atrial enlargement, Short ... OMIM:614008
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Camptodactyly of finger, Malformation of the hepatic du... OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Short stature, Bilateral cryptorchidism, Pyloric s... OMIM:617402
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Webbed pe... ORPHA:261537
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased... OMIM:133100
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Absence of renal corticomedullary differentiation, Angiofibromas, Retinal ... OMIM:613254
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Feeding difficu... OMIM:614702
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Dubin-Johnson Syndrome
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... ORPHA:234
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Polyhydramnios OMIM:619971
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:619343
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Feeding difficulties in infancy, Flexion contracture, Lower limb muscle weakness, H... ORPHA:365
Ciliary Dyskinesia, Primary, 37
Female infertility, Rhinorrhea, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Hyperconvex n... OMIM:106260
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin OMIM:146700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flexion contract... OMIM:616897
Poems Syndrome
Thrombocytosis, Lymphoproliferative disorder, Pericardial effusion, Leukonychia, Lymphadenopathy,... ORPHA:2905
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Growth delay, Bone marrow hypocellularity, Infection associated ne... ORPHA:445038
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Abnormal lung morphology, Recu... ORPHA:182
Rapadilino Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, High, narrow palate, Diarrhea... OMIM:266280
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Stroke, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... OMIM:276700
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Decreased ... ORPHA:811
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Cleft palate, Intracranial hemorrhage, Nevus, Hemangioma, Abnormal... ORPHA:398189
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, ... ORPHA:90289
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Abdominal pain, Thrombocytop... ORPHA:91547
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational... OMIM:239850
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Achalasia, Abnormality of the female gen... ORPHA:1018
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Numerous nevi, Bicuspid aortic valve, Nasogastric tube feeding in infancy, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Numerous nevi, Bicuspid aortic valve, Nasogastric tube feeding in infancy, A... ORPHA:363958
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Bloody diarrhea, Intracranial hemorrhage, Abnormality of the liver, Muscl... ORPHA:464321
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Camptodactyly of finger, Thenar muscle atrophy... OMIM:607015
Bartsocas-Papas Syndrome 1
Skin tags, Bilateral cryptorchidism, Flexion contracture, Micropenis, Patent foramen ovale, Absen... OMIM:263650
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung... ORPHA:142
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Mowat-Wilson Syndrome
Bifid scrotum, Vomiting, Atrial septal defect, Hypospadias, Pulmonary artery sling, Short stature... OMIM:235730
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retar... OMIM:616271
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Enchondroma, Myositis, Multiple joint contractures, Short stature,... ORPHA:51
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration OMIM:253700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Facial hypotonia, Short stature, Cryptorchidism, Flexion contractur... OMIM:300534
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Thoracic aortic aneurysm, Abdominal pain... ORPHA:449400
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Pneumonia, Polyhydramnios, Edema, Cryptorchidism... ORPHA:98905
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive, Anemia ORPHA:436271
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Papule, A... ORPHA:2273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hepatic calcification, Feeding diff... ORPHA:228308
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia... ORPHA:137634
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Failure to thrive OMIM:230600
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine growth retardati... OMIM:616353
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Micropenis OMIM:618840
Christianson Syndrome
Decreased muscle mass, Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dyspha... ORPHA:85278
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Micropenis, Hydronephrosis OMIM:619185
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Elevated hemoglobin A1c, Elevated circulating aspartate... OMIM:617253
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Hypoparathyroidism, Elevated circulating a... OMIM:277900
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Acral ulceration, Septic arthritis OMIM:608654
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... OMIM:603233
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Squamous cell carcinoma, Carcinoma, Palmoplantar keratoderma... OMIM:615225
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Short stature ORPHA:52430
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture, Reduced beta-hexosaminidase activity, Diarrhea, ... ORPHA:309162
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Ragged-red muscle fibers, Dilated cardio... ORPHA:352447
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Mandibuloacral Dysplasia
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, Contractures of the large joi... ORPHA:2457
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Pruritus, Splenomegaly, Peripheral arterial st... ORPHA:71493
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Pa... OMIM:600001
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Diarrhea, Vomiting, H... ORPHA:31824
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Vasculitis, Skin rash OMIM:601979
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Autosomal Recessive Robinow Syndrome
Atrial septal defect, Sacral dimple, Alopecia, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:1507
Ulnar-Mammary Syndrome
Anal stenosis, Small scrotum, Ventricular septal defect, Sparse axillary hair, Pyloric stenosis, ... OMIM:181450
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp OMIM:608649
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Myopathy, Dermal atrophy, Skin... ORPHA:257
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Papule OMIM:602248
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Hypertension, Vomiting, Pallor, Hypo... ORPHA:134
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation, Hepati... ORPHA:254346
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, ... ORPHA:35858
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Peritonitis, Leukocytosis, Diarrhea, Abno... ORPHA:391673
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Webbed pe... ORPHA:261552
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... ORPHA:1647
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary artery ste... ORPHA:251071
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Generalized amyotro... OMIM:264090
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Clitoral hypertrophy, Elevated h... OMIM:269700
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, High palate, Multiple ca... ORPHA:85279
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Osteomyelitis, Keratitis, Acral ulceration, Nail dystrophy, Nail dysplasia, Po... OMIM:256800
Eosinophilic Fasciitis
Macule, Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, W... ORPHA:3165
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Feeding difficulties in infancy, Weight loss... ORPHA:704
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Short stature, Failure to thrive, Por... OMIM:613658
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Aganglionic megacolon, Hypospadias, High, narrow palate, Rectal prolapse, ... OMIM:309800
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Perianal erythema, Duodenitis, Pustule, Paronychia, Bloody diarrhea, Perioral er... OMIM:614328
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Nausea, Congestive heart failure, Weight los... ORPHA:94080
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Labial pseudohypertrophy, Polycyst... OMIM:151660
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,... ORPHA:79128
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Decreased mucosal sucrase-isomaltase activity, Malabsorption OMIM:222900
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Niemann-Pick Disease, Type C2
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-... OMIM:607625
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay, Absence of intrinsic factor OMIM:243320
Tetrasomy 9P
Myositis, Biliary atresia, High palate, Intrauterine growth retardation, Micropenis, Patent foram... ORPHA:3310
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Short stature, Pneumonia, Reduced leukocyte arylsulfatase ... OMIM:253200
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Limb hypertonia OMIM:614219
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Lack... ORPHA:90153
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Intestinal malrotation, Cleft soft palate, Leukocytosis, Flexion contrac... OMIM:619321
Limb-Mammary Syndrome
Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Submucous cl... ORPHA:69085
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... OMIM:608149
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy... OMIM:608594
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Iridocyclitis, Oligoar... ORPHA:85436
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Ragged-red m... OMIM:603041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Shoulder dimple, Cach... ORPHA:813
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Retinal telangiectasia, Pulmonary embolism, Microcytic anemia, Chole... ORPHA:774
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Oropharyngeal squamous cell carcinoma, Yellow nails, Breast carcinoma, Tel... OMIM:614564
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Elevated circulating thyroid-s... OMIM:620185
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistu... OMIM:619708
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Hyperhidrosis, ... ORPHA:79264
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Short Syndrome
Alopecia, Severe short stature, Poor appetite, Weight loss, Excessive wrinkled skin, Sparse hair ORPHA:3163
Leptospirosis
First degree atrioventricular block, Anorexia, Uveitis, Hepatomegaly, Abdominal pain, Hepatitis, ... ORPHA:509
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... OMIM:615994
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... OMIM:208000
Brunner Syndrome
Diarrhea OMIM:300615
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Feeding difficulties in infancy, Paronychia, Gastroesophageal reflux, Acral ulceration OMIM:201300
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Atrial septal defect, Stomach cancer, Intestinal polyposis, Short stature, Vaginal neop... ORPHA:1052
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... OMIM:300908
Maculopapular Cutaneous Mastocytosis
Macule, Yellow papule, Abdominal pain, Diarrhea, Erythema, Vomiting, Elevated total serum tryptas... ORPHA:79457
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion co... ORPHA:85408
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Abdominal pain, Encop... ORPHA:589821
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Hypermelanotic macule, Postn... ORPHA:90321
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Short stature, Nevus sebaceous, Precocious puberty, Coarctation of aorta, Linear nevus ... OMIM:163200
Yunis-Varon Syndrome
Redundant neck skin, Palmoplantar hyperkeratosis, High palate, Absent fingernail, Aspiration pneu... OMIM:216340
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypertension, Hypogonadism, Dysphagia, Limb musc... ORPHA:97229
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, P... OMIM:148700
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D... OMIM:612301
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Short statu... ORPHA:98908
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating enzyme concentration or activity, Increased fecal coproporphyrin 3, Ankle fl... ORPHA:100924
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Disproportionate short-trunk short stat... ORPHA:583
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Immunodeficiency 21
Osteomyelitis, Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium a... OMIM:614172
Lassa Fever
Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Jaundice, Diarrhea, Conjunctivitis,... ORPHA:99824
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:2471
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Vascular Ehlers-Danlos Syndrome
Redundant skin, High, narrow palate, Osteoarthritis, Subcutaneous nodule, Gastrointestinal infarc... ORPHA:286
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Dystrophic fingernai... ORPHA:740
Gomez-Lopez-Hernandez Syndrome
Alopecia, High palate, Short stature OMIM:601853
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Angiofibr... ORPHA:733
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Abnormality of female external genitalia, Eryth... ORPHA:83453
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Abnormal aortic arch morphology, Gastroesopha... ORPHA:567
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Failure to thrive, Decreased fem... ORPHA:95409
Calciphylaxis
Arterial calcification, Skin ulcer ORPHA:280062
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... OMIM:614594
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Short stature, Diarrhea, Neutropenia, Prolong... OMIM:617941
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pericardial effusion, Splenomegaly, Lymphangioma, T... ORPHA:464329
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Hypohidrosis OMIM:612783
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... OMIM:245600
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration p... OMIM:230900
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Omphalocele Syndrome, Shprintzen-Goldberg Type
Abnormal eyelash morphology, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal ... ORPHA:3164
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta... ORPHA:60025
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal stomach morph... ORPHA:512
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Cardiomegaly, Gastrointestinal dysmotility... ORPHA:391428
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegal... OMIM:135500
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Encephalocraniocutaneous Lipomatosis
Alopecia, Astrocytoma, Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Nevus psil... OMIM:613001
Hereditary Folate Malabsorption
Nausea and vomiting, Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic... ORPHA:90045
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation ORPHA:228390
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Sparse hai... ORPHA:1005
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Delayed pubert... OMIM:232200
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Nephronophthisis 11
Growth delay, Hepatic fibrosis, Anemia OMIM:613550
Essential Thrombocythemia
Transient ischemic attack, Abnormal cerebral vascular morphology, Splenomegaly, Abnormal platelet... ORPHA:3318
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Sparse scalp hair, Short stature, Highly arched eyebrow, Asp... ORPHA:221120
Tsh-Secreting Pituitary Adenoma
Vomiting, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreas... ORPHA:91347
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Desmosterolosis
Aplasia/Hypoplasia of the skin, Severe short stature, Intestinal malrotation, Splenomegaly, Submu... ORPHA:35107
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer ORPHA:352723
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Failure to thrive, Diarrhea, Flexion contracture, High palate, Vomiting, Small n... OMIM:601110
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Pheochromocytoma, Pallor, Ganglioneuromatosis, Cervical neoplasm, Neur... ORPHA:653
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Chronic Hiccup
Malnutrition, Abnormality of the diaphragm, Weight loss ORPHA:396
Tetrasomy 12P
Short stature, Cachexia, Sparse eyebrow, Abnormal soft palate morphology, Sparse hair, Anal atresia ORPHA:884
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Achrom... OMIM:191100
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Shoulder muscle hypoplasia, Eosinophilia, Seborrh... OMIM:274000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... OMIM:220110
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Feeding difficulties, Pulmonary a... OMIM:619051
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Spontaneous Periodic Hypothermia
Nausea and vomiting, Skin rash, Diarrhea, Pallor, Arrhythmia ORPHA:29822
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Penetrating foot u... ORPHA:99956
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Feeding difficulties in infancy, Congenital contracture, Gastr... ORPHA:191
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Hypospadias, Shoulder dimple, Small for gestational age, Poor appetite, Pr... ORPHA:96182
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Transient ischemic attack, Carotid artery stenosis, Bowel incontinence, Lacunar stroke,... OMIM:600142
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Leukopenia, Vomiting, Hepatomegaly, Hepatosplenomegaly, Hepatic amy... ORPHA:470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Feeding difficulties in infancy, Synophrys, High palate, Gastroesophageal reflux, Atrial septal d... ORPHA:280633
Huntington Disease-Like 2
Weight loss ORPHA:98934
Adrenoleukodystrophy
Alopecia, Bowel incontinence, Impotence, Hypogonadism, Lower limb muscle weakness OMIM:300100
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Failure to thrive,... ORPHA:293978
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, L... OMIM:616026
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Feeding difficu... ORPHA:157973
Acrokeratoelastoidosis Of Costa
Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin ... ORPHA:38
Immunodeficiency 22
Pericarditis, Failure to thrive, Thrombocytopenia, Diarrhea, Capillary leak, Protracted diarrhea,... OMIM:615758
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopigmentation, ... ORPHA:398079
8P11.2 Deletion Syndrome
Preauricular pit, Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogona... ORPHA:251066
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Cimdag Syndrome
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... ORPHA:324410
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, ... ORPHA:514
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss, Pulm... ORPHA:1164
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partia... ORPHA:95430
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Diarrhea, Subcutaneous nodule, Flexion contracture, Gingival fi... OMIM:228600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... ORPHA:90790
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Rhizomelia, Recurrent pneumonia, Short stature OMIM:613848
Familial Tumoral Calcinosis
Hepatomegaly, Calcification of muscles, Skin rash, Splenomegaly, Subcutaneous nodule, Erythema, H... ORPHA:53715
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Coarctation o... ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Oligohydramnios OMIM:618253
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Sitosterolemia 1
Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthri... OMIM:210250
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... OMIM:277175
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... OMIM:617156
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Congestive ... ORPHA:90033
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Skeletal muscle atrophy, Failure to thr... OMIM:219800
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Feeding difficulties in infancy, High, narrow palate, High pala... OMIM:163950
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly OMIM:614473
Hemifacial Atrophy, Progressive
Tongue atrophy, Patchy alopecia, Poliosis OMIM:141300
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis OMIM:608885
Ring Chromosome 13 Syndrome
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Urogenital sin... ORPHA:96176
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Yellow papule, Angina pectoris, Congest... OMIM:264800
Scheie Syndrome
Splenomegaly, Hepatomegaly, Rhinitis ORPHA:93474
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short stature, Cardiomegaly, Postnatal growth retardation, Hypertensio... OMIM:613320
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas... ORPHA:143
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive OMIM:210200
Malonyl-Coa Decarboxylase Deficiency
Short stature, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated c... OMIM:248360
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage ORPHA:238459
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Short stature, Seborrheic dermatit... OMIM:301072
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Hypogonadotropic ... ORPHA:35687
Bullous Pemphigoid
Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss ORPHA:703
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Erythema no... OMIM:613471
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Splenomegaly, Pul... ORPHA:667
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Fragile nails, Small ... OMIM:261990
Ane Syndrome
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Short stature, Generalized ... ORPHA:157954
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... ORPHA:2848
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Flexion contracture, Growth delay, High palate, Dermal atrophy, Sparse hair OMIM:608612
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... ORPHA:1677
Multiple Sulfatase Deficiency
Hepatomegaly, Short stature, Splenomegaly, Coarse hair, Thick eyebrow ORPHA:585
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Megaloblastic anemia, Abnormality of hair texture, Feeding difficulties, Hypogonad... ORPHA:79351
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Hypopigmented skin... ORPHA:330064
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hypospadias, Pulmonary edema OMIM:220111
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Increased body weight, Hypertension, Hirsutism OMIM:615830
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase ... ORPHA:54057
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Cockayne Syndrome B
Hepatomegaly, Dry hair, Failure to thrive, Small for gestational age, Severe short stature, Abnor... OMIM:133540
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, N... ORPHA:373
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Failure to thrive, Anemia OMIM:239200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Sepsis, Macular edema, Elevated circulating alkaline phosphatase concentrat... ORPHA:247691
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Vomiting, Acne, Hyp... ORPHA:90794
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia, Seborrheic dermatitis, Feeding difficulties, Vomiting, Propion... OMIM:210210
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Left ventricular hypertrophy, Diff... ORPHA:746
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology... ORPHA:2575
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Abdominal pain, Skin nodule, Diarrhea, Weight loss, Hyperte... OMIM:256700
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity OMIM:600955
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Short stature, Cryptorchidism, Feeding diff... OMIM:620024
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Feeding difficulties in infancy, High palate, Atrial s... OMIM:135900
Cockayne Syndrome A
Hepatomegaly, Dry hair, Hip contracture, Failure to thrive, Short stature, Splenomegaly, Cryptorc... OMIM:216400
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... OMIM:617022
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Esophagitis, Intrauterine growth reta... OMIM:615356
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Rod... OMIM:615989
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... OMIM:176000
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Failure to thrive, Small for gestational age, Pulmona... OMIM:606721
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Skeletal muscle atrophy, Mild postnatal gr... ORPHA:90324
Huntington Disease
Abnormal libido, Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Hutchinson-Gilford Progeria Syndrome
Alopecia, Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart fa... OMIM:176670
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Distal Deletion 19P
Alopecia, Vaginal hernia, Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Kelo... ORPHA:96129
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Facial hypotonia, Cardiac conduction abnormality, Oral... ORPHA:2131
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial s... ORPHA:2255
Acromelic Frontonasal Dysostosis
Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular system, Optic nerve hypoplasia... OMIM:603671
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Congenital finger flexion contractures, Constrictive pericarditis, Wrist flexion contr... OMIM:208250
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Distal amyotrophy, Acral ulceration OMIM:256840
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Dermal atrophy, Th... ORPHA:90154
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Short stature, Po... OMIM:617827
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Deep dermal perivascular inflammatory infiltrate, Psorias... ORPHA:49041
Encephalocraniocutaneous Lipomatosis
Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Su... ORPHA:2396
Monosomy 13Q34
Growth delay, Hepatic steatosis, Obesity ORPHA:96168
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal atresia, Congenital pyloric atresia, Atroph... OMIM:226730
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Premature ovarian insufficiency, Short... OMIM:251260
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Hypogo... ORPHA:79318
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Pituitary adenoma, Insulinoma, Diarrhea, Parathyroid... OMIM:131100
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Diastasis recti, Cardiomegaly, Ad... OMIM:130650
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion... ORPHA:133
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... OMIM:617525
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Postnatal growth retardation, Proximal muscle weakness i... ORPHA:453533
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Feeding difficulties in infancy, Vomiting, Thrombocytopenia OMIM:253270
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy... ORPHA:398069
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Retin... OMIM:619471
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Severe short stature, Hiatus hernia, Excessive wrinkled skin, Gastroesop... ORPHA:1901
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Erythema, Vomiting, Left ... OMIM:618321
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al... ORPHA:785
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, Congenital diaphragmatic hernia, Coronary-pulmonary artery fistu... OMIM:619699
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Acute Intermittent Porphyria
Nausea and vomiting, Proximal muscle weakness in upper limbs, Tachycardia, Abnormal circulating e... ORPHA:79276
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Hypoplasia o... OMIM:617666
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Familial Glucocorticoid Deficiency
Anorexia, Precocious puberty, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los... ORPHA:361
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Atopic dermatitis, We... ORPHA:2902
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Peripheral arteri... ORPHA:90041
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Feeding difficulties, ... OMIM:616801
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle... OMIM:266500
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effu... ORPHA:1272
Hereditary Central Diabetes Insipidus
Growth delay, Diarrhea, Vomiting, Weight loss ORPHA:30925
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Feeding difficulties in ... ORPHA:1328
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Tuberous xanthoma, Tendon xanthomatosis, Diarrhea, Xanthe... OMIM:213700
Progressive Nodular Histiocytosis
Cachexia, Subcutaneous nodule, Papule ORPHA:158022
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Gaucher Disease
Feeding difficulties in infancy, Osteoarthritis, Hepatomegaly, Short stature, Abnormal pericardiu... ORPHA:355
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis, Epidermal acanthosis ORPHA:199267
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... ORPHA:1517
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Cleft palate, Sparse or absent eyelashes, Hypoplastic mal... ORPHA:1234
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Adams-Oliver Syndrome 1
Aplasia cutis congenita on trunk or limbs, Alopecia, Bicuspid aortic valve, Ventricular septal de... OMIM:100300
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Sh... ORPHA:3380
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis, Palmar pits, Squamous cell carcinoma, Basal cell carcinoma, Verrucae OMIM:618267
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Cryptor... ORPHA:2896
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration, Alopecia, Hamartoma OMIM:135100
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Malabsorption, Precocious puberty, Feeding difficulties in i... ORPHA:50
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, High, narrow palate, Epispadias, Naevus flammeus of the eyelid, Clitoral hyp... ORPHA:3107
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia... ORPHA:3157
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Neoplasm ... ORPHA:744
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... ORPHA:2020
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Albinism, Splenomegaly, Feeding difficulties, Neutropenia OMIM:617050
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Gastroparesis, Centrall... OMIM:607459
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Nausea, Conge... ORPHA:276621
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Facial diplegia, Gastroesop... OMIM:618186
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythema, Thin skin, Acantholysis ORPHA:455
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... OMIM:241410
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Premature ovarian insufficiency, Severe short s... OMIM:610965
Diencephalic Syndrome
Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight ORPHA:1672
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Feeding difficulties in infancy, High ... OMIM:618798
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Chronic mucocutaneous candi... ORPHA:3453
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uter... OMIM:619151
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Increased circulating antibody le... ORPHA:77261
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abdominal pain, Congestive heart failure, Hypot... ORPHA:428
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Redundant skin, Cachexia, Short stature, Ileus, Constipation ORPHA:52503
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Anemia, Growth... OMIM:614083
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia ORPHA:431361
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration, Alopecia OMIM:600785
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hepa... ORPHA:1855
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Seba... OMIM:135150
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Short stature, Hyperconvex nail, Highly arched eyebrow, Sparse eye... OMIM:614527
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Short stature, Highly arched eyebrow, Hypoplastic fifth fingernail, Hypoplasia... OMIM:615866
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:99880
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Elevated circulating alkaline phosphatase concentration, Protuberant abdomen, Failu... OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Diarrhea, Feeding difficulties, Contracture of the proximal interphalangeal joint ... OMIM:618050
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Syn... ORPHA:85293
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Epistaxis, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Dysphagia... ORPHA:495818
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Yellow Fever
Vomiting, Nausea, Internal hemorrhage, Neutrophilia, Elevated circulating aspartate aminotransfer... ORPHA:99829
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Nasogastric tube feeding in infancy, Elbow flexion cont... ORPHA:371364
Split Cord Malformation
Hypospadias, Bowel incontinence, Tufted hairs, Penetrating foot ulcers, Spinal cord tumor, Skin d... ORPHA:573278
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... OMIM:139090
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Congenital hepatic fibrosis, Cry... ORPHA:93271
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer OMIM:245660
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Postauricular pit, Atrial septal defect, Hepatoblastoma, Preauri... OMIM:312870
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Feeding difficulties in infancy, Anteriorly place... OMIM:261540
Darier-White Disease
Ridged nail, Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Plantar pits, Enlar... OMIM:124200
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, P... ORPHA:2388
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebra... ORPHA:29072
Sotos Syndrome
Cryptorchidism, Patent ductus arteriosus, Increased body weight, Overgrowth, Prolonged neonatal j... OMIM:117550
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis, Multiple exostoses OMIM:175450
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme concentration ... ORPHA:95159
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Hyperprolinemia Type 2
Abnormal circulating enzyme concentration or activity, Abdominal pain, Diarrhea, Feeding difficul... ORPHA:79101
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Generalized hirsutism, Cachexia ORPHA:1933
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... ORPHA:469
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr... OMIM:309801
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, L... ORPHA:536
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... OMIM:300868
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... ORPHA:103918
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism OMIM:244460
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Short stature, Diffuse alveolar hemorrhage, Cryptorchidism, ... OMIM:130050
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... OMIM:609049
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Ambiguous genitalia, Micropenis, Decrease... OMIM:300215
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Short stature, Autoimmune thrombocytopenia, Hypers... ORPHA:77293
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Retinal detachment, Increased body weight OMIM:182290
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin OMIM:618527
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Nevus, S... OMIM:613451
Occipital Horn Syndrome
Gastroparesis, Thick hair, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, ... ORPHA:198
Phakomatosis Pigmentokeratotica
Nephroblastoma, Rhabdomyosarcoma, Raynaud phenomenon, Precocious puberty, Cryptorchidism, Melanoc... ORPHA:2874
Lymphatic Malformation 6
Short stature, Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Webbed neck, Atrial septa... OMIM:616843
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Hypothyroidism, Joint swelling, Restrictive ventilat... OMIM:607944
Huntington Disease-Like 2
Weight loss OMIM:606438
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Po... ORPHA:96180
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased s... ORPHA:79277
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camp... OMIM:601803
Orofaciodigital Syndrome Type 4
Decreased testicular size, Failure to thrive, Severe short stature, Monorchism, Camptodactyly of ... ORPHA:2753
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failure,... OMIM:181270
Methionine Malabsorption Syndrome
Diarrhea, White hair OMIM:250900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Juvenile Huntington Disease
Weight loss ORPHA:248111
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Squamous cell carcinoma of the skin... OMIM:181600
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Chori... ORPHA:805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidir... OMIM:619351
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Pulmonary embo... ORPHA:94093
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Cachexia ORPHA:1438
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot, Thr... ORPHA:3320
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Nausea, Abdominal pain, Vulval v... ORPHA:71273
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Cachexia, Nasogastric tube feeding in infa... ORPHA:206436
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Patent ductus arteriosus, Hepatic steatosis OMIM:619934
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Feeding difficulties in infancy, Low anterior hairline, High palate, Wri... ORPHA:800
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Schwannoma, Jaw claudication, Malnutrition, Weight loss, ... ORPHA:221098
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Episodic abdominal pain, ... OMIM:238600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall... OMIM:158330
Chikungunya
Macule, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud phenomenon, Cerv... ORPHA:324625
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Biotinidase Deficiency
Alopecia, Skin rash, Conjunctivitis, Limb muscle weakness, Eczematoid dermatitis, Decreased circu... ORPHA:79241
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Cole Disease
Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,... OMIM:615522
Knobloch Syndrome 1
Pyloric stenosis, Alopecia of scalp, Horizontal eyebrow OMIM:267750
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Weight loss, Abnormal lymph node morpho... ORPHA:677
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Gitelman Syndrome
Tubulointerstitial nephritis, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimot... ORPHA:358
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom... ORPHA:646
Liposarcoma
Nausea and vomiting, Abdominal pain, Subcutaneous nodule, Weight loss, Sarcoma ORPHA:69078
Graves Disease, Susceptibility To, 1
Congestive heart failure, Onycholysis, Abnormal abdomen morphology, Weight loss OMIM:275000
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Abnorm... ORPHA:252164
Focal Myositis
Myositis, Weight loss ORPHA:48918
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Cryptorchidism,... OMIM:603467
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... ORPHA:31825
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont... ORPHA:158684
Malt Lymphoma
Nausea and vomiting, B-cell lymphoma, Abdominal pain, Mediastinal lymphadenopathy, Lymphadenopath... ORPHA:52417
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Cachexia, Arteriosclerosis, Basal cell carcinoma, Melanoma, Squamous ce... ORPHA:220295
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Jaundice, Diarrhea,... ORPHA:90062
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:615023
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... ORPHA:289548
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Generalized hypertrichosis, Annula... ORPHA:798
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Short stature, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Coarctatio... OMIM:617088
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Cleft palate, Abnormal heart morpholog... ORPHA:2237
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Cardiomegaly, Medial calcification of medium-sized arteri... ORPHA:51608
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Postnatal growth retardation, Feeding difficulties, Gastroesophageal reflux, Esophag... ORPHA:79350
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cry... OMIM:614231
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Gastroesophageal reflux, Constipation, Abnormal... OMIM:312750
Huntington Disease-Like 1
Weight loss ORPHA:157941
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal fingernail morphology, Unilateral hypoplasia of pectoralis major muscle, Supernumerary n... ORPHA:1521
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature ORPHA:93160
Tay-Sachs Disease
Precocious puberty, Abnormal circulating enzyme concentration or activity, Increased serum beta-h... ORPHA:845
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Eryt... OMIM:302960
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Hypovolemia, Abnormal heart morphology, Weight loss, Lower-limb joint contract... ORPHA:99885
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... ORPHA:391665
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Ascen... ORPHA:141127
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Breast aplasia, Tricuspid valve prolapse, Atrioventricular canal defect, Fa... ORPHA:276413
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Type II diabetes mellitus, Coronary artery atherosclerosis, Obesity OMIM:618620
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Bifid scrotum, Failure to thrive, Osteomyelitis, Hypospadias, Over... OMIM:619475
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated hemoglobin A1c, Postnatal gr... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Linear Nevus Sebaceus Syndrome
Alopecia, Cavernous hemangioma, Melanocytic nevus, Growth delay, Adenoma sebaceum ORPHA:2612
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Oral leukoplakia OMIM:615735
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Subcutaneous... ORPHA:764
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... ORPHA:300605
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... OMIM:236680
Cholera
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... ORPHA:173
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Petechiae ORPHA:51188
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymphadenopathy, Enlargement of paro... ORPHA:79078
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight... OMIM:164310
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Serotonin Syndrome
Tachycardia, Diarrhea, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Optic atrophy, Hematur... ORPHA:538
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Ir... OMIM:110100
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations OMIM:133020
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Pneumo... ORPHA:309282
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Ayme-Gripp Syndrome
Sparse scalp hair, Pericarditis, Short stature, Nail dystrophy, Camptodactyly, Broad eyebrow OMIM:601088
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Retrograde ejaculation, Rhinitis, Orthostatic sy... ORPHA:230
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Slender build, Cachexi... ORPHA:558
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Polyhydramnios OMIM:617809
Lumbar Syndrome
Skin tags, Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labi... ORPHA:83628
Oromandibular Dystonia
Torticollis, Weight loss, Dysphagia ORPHA:93958
Peters Plus Syndrome
Feeding difficulties in infancy, Bicuspid pulmonary valve, Clitoral hypoplasia, Abnormality of th... ORPHA:709
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Redundant skin, Myocarditis, Disproportionate short stature, Atrial septal defect, Ar... OMIM:250220
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Glutaric Aciduria Iii
Diarrhea, Hypertension, Vomiting, Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to t... OMIM:231690
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive OMIM:264350
Rheumatoid Arthritis
Digital flexor tenosynovitis, Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Abnormal mitral valve morphology, Short stature, Cachexia, Anorexia, Mel... ORPHA:1969
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Behcet Syndrome
Genital ulcers, Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Erythema, Epididymitis, Arth... OMIM:109650
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly OMIM:620306
Perlman Syndrome
Renal hamartoma, Large for gestational age, Cryptorchidism, Pancreatic islet-cell hyperplasia, In... OMIM:267000
Knobloch Syndrome 2
Pyloric stenosis, Chronic constipation OMIM:618458
Hydatidiform Mole
Nausea and vomiting, Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Anteriorly placed anus, Clitoral hypo... OMIM:305600
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Penile hypospadias, Recurrent aspiration pneumonia ORPHA:73230
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Aspiration pneumonia ORPHA:95232
Gm1 Gangliosidosis Type 1
Decreased beta-galactosidase activity, Hydrops fetalis, Aspiration pneumonia ORPHA:79255
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Cyclopia, Di... OMIM:157170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Hypospadias, Supernumerar... ORPHA:397715
Phocomelia, Schinzel Type
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Disproportionate short stature, Tracheo... ORPHA:2879
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:228371
Pelizaeus-Merzbacher Disease
Short stature, Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Malabsorption, Splenomegaly, Arthritis, Macroglossia, Chronic otiti... ORPHA:93
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Mccune-Albright Syndrome
Large cafe-au-lait macules with irregular margins, Pituitary adenoma, Precocious puberty, Intesti... OMIM:174800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Transient ischemic attack, Cerebral arteriovenous malformation, Pulm... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Transient ischemic attack, Cerebral arteriovenous malformation, Pulm... OMIM:600376
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Erythema, Vomiting OMIM:106100
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent skin infections, Short stature, Hypogonadotropic hypogonadism, D... ORPHA:3455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Cryptorchidism, Loss of eyelashes, Submucous cleft hard palate, C... ORPHA:2636
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations, Weight loss OMIM:188580
Townes-Brocks Syndrome 1
Preauricular pit, Bifid scrotum, Anal stenosis, Rectoperineal fistula, Ventricular septal defect,... OMIM:107480
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Aspartylglucosaminuria
Hepatomegaly, Acne, Short stature, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgi... OMIM:208400
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Subcutaneous nodule,... ORPHA:79280
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Abnormal hair whorl, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia of... ORPHA:457284
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Hy... OMIM:608643
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Recurrent urinary tract infections, Impotence, Decreased sweating due to autonomic dy... ORPHA:99027
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Growth delay, Hy... OMIM:223900
Sympathetic Ophthalmia
Alopecia, Poliosis, Erythema, Retinal hemorrhage, Posterior uveitis ORPHA:79098
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Absent eyelashes, Cryptorchidism, Cleft palate, Stillbir... OMIM:256520
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... OMIM:266810
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive OMIM:177735
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Atypical scarring of skin, High palate, Thin skin, Uteri... ORPHA:60030
Hereditary Late-Onset Parkinson Disease
Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:411602
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... ORPHA:79102
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea ORPHA:2828
Stickler Syndrome
Skeletal muscle atrophy, Slender build, Short stature, Cachexia, Feeding difficulties in infancy,... ORPHA:828
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias... ORPHA:322
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... OMIM:235400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Coronary artery stenosis OMIM:615812
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Stridor, Bicornuate uterus, Shawl s... ORPHA:2745
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent infections, ... ORPHA:1465
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Growth... ORPHA:427
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Perry Syndrome
Weight loss OMIM:168605
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Penile Agenesis
Ambiguous genitalia, Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly... ORPHA:49
Singleton-Merten Syndrome 1
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Congestive h... OMIM:182250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Abdominal distention, Aplasia of the vagina, Aplasia of the uterus, An... OMIM:271520
Seckel Syndrome
Sparse scalp hair, Short stature, Cachexia, Intrauterine growth retardation ORPHA:808
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Trichotillomania
Alopecia OMIM:613229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry... ORPHA:353281
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Poor appetite, Diarrhea, Growth delay, Constipation, Vomiting, F... ORPHA:18
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus OMIM:617466
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Foam cells, Weight loss ORPHA:747
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Ne... ORPHA:217253
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia,... ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia ORPHA:90035
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Hyperhidrosis, Aplasia of the sweat glands, Recurrent Staph... ORPHA:642
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Pol... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Pol... ORPHA:353277
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Gerstmann-Straussler Disease
Lower limb muscle weakness, Weight loss OMIM:137440
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Elbow flexion contrac... OMIM:276820
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Lower lip pit, Cleft pala... OMIM:119500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... OMIM:201750
Sacral Defect With Anterior Meningocele
Constipation, Sacral lipoma, Rectal abscess, Dermoid cyst OMIM:600145
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93924
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Precocious puberty, Cryptorchidism, Abnormality ... ORPHA:438213
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High pala... ORPHA:284339
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Short stature, Diarrhea, Low-to-normal blood pressure, Vomiting, Const... OMIM:241200
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Congenital hypothyroidism, Recurrent infections, Anoperineal... OMIM:147920
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Goodpasture Syndrome
Glomerulonephritis, Weight loss, Pallor, Anemia, Pulmonary hemorrhage OMIM:233450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ... OMIM:202010
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Congenital hypothyroidism, Aspiration ... ORPHA:79500
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Short stature, Diarrhea, Low-to-normal blood pressure, Constipation, V... OMIM:601678
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Retinitis Pigmentosa 85
Rod-cone dystrophy OMIM:618345

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 Ahr

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 Ahr.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Repression of the aryl-hydrocarbon receptor prevents oxidative stress and ferroptosis of intestinal intraepithelial lymphocytes. Immunity (February 2023) Ahrrtm1c(KOMP)Wtsi Ahrrtm1a(KOMP)Wtsi Ahrrtm1b(KOMP)Wtsi 36801011
Cell-intrinsic Aryl Hydrocarbon Receptor signalling is required for the resolution of injury-induced colonic stem cells. Nature communications (April 2022) Ahrtm1a(KOMP)Mbp PMC8983642
The aryl hydrocarbon receptor contributes to tissue adaptation of intestinal eosinophils in mice. The Journal of experimental medicine (March 2022) Ahrtm1a(KOMP)Mbp PMC8899390
The transcription factors GATA2 and microphthalmia-associated transcription factor regulate Hdc gene expression in mast cells and are required for IgE/mast cell-mediated anaphylaxis. The Journal of allergy and clinical immunology (December 2017) Ahrrtm1a(KOMP)Wtsi 29277702
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Ahrrtm1b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Ahrtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Ahrem1(IMPC)Ccpcz Exon Deletion Mice
Ahrtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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