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Gene: Fam227b MGI:1923073

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Gene Summary

Name:
family with sequence similarity 227, member B
Synonyms:
4930525F21Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal ileum morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal jejunum morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal colon morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, incomplete penetrance Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
female infertility Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged epididymis Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal epididymis morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
male infertility Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal mammary gland morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Fam227b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fam227b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphad... ORPHA:100025
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
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
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis, Oral ulcer OMIM:618287
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Abnormality of the denti... OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Abnormal oral cavity morphology ORPHA:42642
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:319487
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:97290
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin vermilion bor... OMIM:608540
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Fe... ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ethanolaminosis
Cardiomegaly OMIM:227150
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy... OMIM:235200
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, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
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 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy... OMIM:602390
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Ascites, H... OMIM:269920
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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
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
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni... OMIM:602450
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode... ORPHA:3405
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Abnormality of the gastrointestinal tract, Primary testicular fai... ORPHA:85450
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmat... ORPHA:2059
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp... ORPHA:2686
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... ORPHA:26790
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Malabsorption, Splenomegaly, Hypogeusia, Furrowed t... ORPHA:2930
Feingold Syndrome
Micrognathia, Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, D... ORPHA:1305
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hypogonadism, Hepatic fibrosis,... OMIM:613313
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micr... OMIM:235255
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Splenomegaly, Cr... ORPHA:1655
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Atrial septal defect, Micro... OMIM:229850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Micrognathia, Cryptorchidism, Leu... ORPHA:99812
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia OMIM:617784
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General... OMIM:615559
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... ORPHA:2221
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... OMIM:265380
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility OMIM:618948
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... OMIM:253250
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, S... ORPHA:280200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... OMIM:618935
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Thin upper lip vermilion, Hypogonadotropic hypogon... ORPHA:353298
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth... ORPHA:1046
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hy... ORPHA:465508
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion contracture, Low... OMIM:618440
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Intestinal malrotation, Flexion contracture, Tracheoesophageal fistula, ... ORPHA:115
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Steatorrhea... OMIM:612714
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Cholestasis, Perimembranous ventricular septal de... OMIM:608104
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth... OMIM:243605
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, T... OMIM:300514
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... OMIM:616651
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ambiguous genitalia, Hypospadias, Micrognathia, Cryptorchidism, Embryonal rhabdomy... OMIM:257300
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial septal defect, ... OMIM:235510
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber size, Pancreatitis... ORPHA:2348
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Female infertility, Goiter OMIM:617577
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... ORPHA:3473
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Retrognathia OMIM:615637
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, A... OMIM:164280
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Leukopen... OMIM:603467
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... ORPHA:139466
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Synophrys, Retrognathia, Skeletal... OMIM:300280
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis OMIM:240500
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... ORPHA:85212
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ... ORPHA:3386
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... OMIM:608184
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Anemia ORPHA:1802
Alpha-Mannosidosis
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m... ORPHA:61
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Smooth philtrum, Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet v... OMIM:300048
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Lymphadenopathy, Abnormal skeletal muscle morphology, Dysphagia, Nodul... ORPHA:142
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Long philtr... OMIM:616354
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... OMIM:614096
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Microcytic anemia, Deep philtrum, Lymphadenopathy, Hepatosplenomegaly, Hig... OMIM:619750
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Dysmenorrhea, Splenomegaly, Abnormality of skeletal ... ORPHA:79083
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the ... ORPHA:363444
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... OMIM:617022
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Natal tooth, Brittle hair, Bilateral cryptorchidism, Pyloric stenosis, Abdom... OMIM:616395
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Recurrent si... OMIM:620282
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:611762
H Syndrome
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Microcytic anemia, Malabsorption, Cleft upp... ORPHA:168569
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia ORPHA:75233
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl... OMIM:615122
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Esophageal varix, ... OMIM:616028
Sea-Blue Histiocyte Disease
Splenomegaly, Sea-blue histiocytosis, Cirrhosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... OMIM:616050
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... ORPHA:507
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... ORPHA:398063
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun... ORPHA:1333
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia OMIM:620210
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ... OMIM:247200
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... ORPHA:163746
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Leuko... OMIM:615895
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, External genital hypoplasia, Cardiomegaly, Thrombocytopenia, R... ORPHA:79330
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ... OMIM:150550
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... ORPHA:85451
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, He... OMIM:304790
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... OMIM:618652
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, In... ORPHA:98813
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ... ORPHA:379
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Intestinal malrotation, Duodenal stenosis, A... ORPHA:1759
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... ORPHA:2470
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Hirsutism OMIM:612526
Hennekam Syndrome
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Camptodactyly of finger, Spar... ORPHA:2136
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Thrombocytop... OMIM:608013
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Abnormal er... ORPHA:264580
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... OMIM:614700
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh... OMIM:602579
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumulation in liver, Hepatosplenome... OMIM:616828
Sézary Syndrome
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Nail dystrophy, A... ORPHA:3162
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Reduced natural ... OMIM:609981
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:616719
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Myopathy, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr... ORPHA:79477
Ciliary Dyskinesia, Primary, 14
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Chronic sinusitis, Reduced... OMIM:613807
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Hypertrichos... OMIM:619227
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Synoph... OMIM:606003
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Alopecia, Myositis, Hemolytic anemia, Ga... ORPHA:809
Distal Deletion 12Q
Median cleft lip, Unilateral cryptorchidism, Micrognathia, High, narrow palate, Pituitary adenoma... ORPHA:96149
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... ORPHA:3000
Trigonocephaly 1
High, narrow palate, Synophrys, Long penis, Long philtrum, Meckel diverticulum OMIM:190440
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Myopathy,... ORPHA:169090
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... OMIM:606367
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen... ORPHA:277
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skeletal muscle atrophy... OMIM:614162
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ... ORPHA:2070
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... OMIM:615387
Whim Syndrome
Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis,... ORPHA:51636
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Ambiguous genitalia, Vaginal neoplasm, Rhabdomyosarcoma, Micrognathia, Clef... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Thick hair, Splenomegaly, Cirrhosis, Recurrent infection of the gastrointestinal tr... OMIM:613489
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence OMIM:268800
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia... OMIM:270100
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites ORPHA:2414
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, L... OMIM:257200
Sialuria
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Synophrys, Low posterior h... OMIM:269921
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption ORPHA:79302
Alg1-Cdg
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy, Abnormal h... ORPHA:79327
Fg Syndrome Type 1
Dental crowding, Micrognathia, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal d... ORPHA:93932
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Premature g... ORPHA:1775
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A... ORPHA:160
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas... OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy, ... ORPHA:343
Alg6-Cdg
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice ORPHA:79320
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocel... OMIM:201475
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent... ORPHA:79665
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Esophageal varix, Cholestasi... OMIM:614576
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental ... ORPHA:1133
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Cardiomegaly, Gastrointestinal dysmotility, Low anterior hairline, Gastroe... ORPHA:363705
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Abnormal external genitalia... ORPHA:1199
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, ... OMIM:619036
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly, Flexi... OMIM:619183
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Jacobsen Syndrome
Smooth philtrum, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Thrombocytope... ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Micrognathia, N... OMIM:614114
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... ORPHA:79239
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Synophrys, Protein-losing enteropathy OMIM:618154
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Malabsorption, Splenomega... ORPHA:579
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... ORPHA:231226
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Hepatocellular carcinoma, Splenomegaly, Limb... ORPHA:79240
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Splenomegaly, Micro... OMIM:619418
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Papa Syndrome
Myositis, Crohn's disease, Lymphadenopathy ORPHA:69126
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Trismus, Jaundice, Oral ulcer, Lymphade... ORPHA:39812
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, High palate, Long ph... OMIM:605309
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Flexion contracture, Cleft pa... OMIM:616897
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Focal Dermal Hypoplasia
Alopecia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Camptodact... ORPHA:2092
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Intestinal malrotation... OMIM:617602
Melkersson-Rosenthal Syndrome
Facial palsy, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia ORPHA:2483
Diets-Jongmans Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia... OMIM:618846
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr... OMIM:309900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Widow's pe... OMIM:616975
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Myopathy, Reduced m... OMIM:212140
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G... ORPHA:33276
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... OMIM:613179
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly,... ORPHA:251066
Thyroid Lymphoma
Lymphadenopathy, Dysphagia, Goiter ORPHA:97285
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Malabsorption, Splenomegaly, M... ORPHA:3452
Malakoplakia
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Abnormality of the tongue, ... ORPHA:556
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... ORPHA:169154
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphad... ORPHA:342
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Sy... ORPHA:2463
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Alpha-N-Acetylgalactosaminidase Deficiency
Thick vermilion border, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp... ORPHA:231214
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Ventricular septal defect, Endometriosis, Micrognathia, Carious ... OMIM:613680
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Everted lower ... OMIM:252930
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Intestinal malrotation, Micrognathia ORPHA:3035
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Intestinal obstruction, Orchitis, Splenomegaly, Leukocytosis, Peritonitis... ORPHA:32960
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Glycosylphosphatidylinositol Biosynthesis Defect 1
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension OMIM:610293
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Thick lower lip vermi... OMIM:239850
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tu... ORPHA:722
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Micrognathia, Esophageal atresia, Gastrointestinal atresia, ... ORPHA:391641
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... ORPHA:733
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marr... ORPHA:47612
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... ORPHA:2241
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Vascular Hyalinosis
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Malabsorption OMIM:277175
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Cle... OMIM:129400
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Alopecia, Myositis, Pericardial effusion, Oral ulcer, ... ORPHA:93552
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Biliary ci... OMIM:219700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Func... ORPHA:90362
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas... ORPHA:84064
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ... ORPHA:79319
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadia... ORPHA:464306
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Omenn Syndrome
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Abnorm... ORPHA:39041
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... OMIM:603554
Duodenal Atresia
Duodenal atresia OMIM:223400
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... OMIM:214500
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Mandibular prognathia, Duodenal polyposis, Micrognathia, Abnormality of canine, Early balding, Ad... ORPHA:261584
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Micrognathia, Hypoplasia of the maxilla... OMIM:608149
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... ORPHA:33226
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepatomegaly, Hypospad... OMIM:222470
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... OMIM:600001
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Micrognathia, Splenomegaly, Pancreatitis, Proximal upper limb muscle ... ORPHA:280365
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystrophy, Left ventricular ... OMIM:205400
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ... ORPHA:83471
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Ankle flexion contracture, Cryptorchidism, Micropenis, Po... ORPHA:464311
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis, Male infertility OMIM:300991
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... ORPHA:1772
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Decreased muscle mass, Abnormal heart valve morpholo... ORPHA:2953
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... ORPHA:615
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Generalized lymphadenopathy, S... ORPHA:50918
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopenia, Malabsor... ORPHA:37042
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat... OMIM:615688
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... ORPHA:99429
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexi... ORPHA:468631
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat... ORPHA:905
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy,... ORPHA:520
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Myocarditis,... ORPHA:829
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ambiguous genitalia, Median cleft lip, Ventricular septal defect, Intestinal malrot... OMIM:269860
Prolidase Deficiency
Hepatomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, Low posterior hairline, Prolonged neo... OMIM:170100
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenomegaly, Pyloric stenosis, Flexion... OMIM:613327
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Pericar... ORPHA:90291
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Cleft pal... OMIM:301043
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Synophrys, Long eyelashes, Cardiomegaly OMIM:619064
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... ORPHA:913
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Micrognathia, Retrognathia, Dysphagia ORPHA:163961
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition, Mitral valve prolapse, L... OMIM:605822
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Flexion c... ORPHA:77297
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Thick hair, Cardiomegaly, Adenoiditis, Splenomegaly, Syn... ORPHA:581
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Splenomegaly, Jaundice, Cleft lip, High palate, Long philtrum, P... OMIM:251290
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Hepatic ste... ORPHA:42
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Synophrys, Cryptorchidism, High,... OMIM:616368
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... ORPHA:731
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Fraser Syndrome 1
Absent eyebrow, Abnormal small intestine morphology, Hypospadias, Dental crowding, Cleft upper li... OMIM:219000
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Intrahepatic cholestasis, Rh... OMIM:614921
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis,... ORPHA:2137
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... OMIM:617100
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, Cryptorchidism, D... OMIM:618143
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymphaden... OMIM:617591
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... ORPHA:652
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:881
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... ORPHA:90793
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Protruding tongue, Secundum atrial septal defect, Splenome... OMIM:608779
Poems Syndrome
Pericardial effusion, Leukonychia, Lymphadenopathy, Hypogonadism, Erectile dysfunction, Thrombocy... ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath... ORPHA:36412
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Gastroesophage... OMIM:618268
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus, Microcolon OMIM:609313
Desmosterolosis
Intestinal malrotation, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft palate, An... ORPHA:35107
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Albinism... OMIM:608233
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate... OMIM:135500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,... ORPHA:247806
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Conical tooth, High palate, Short philtrum, Atrial sep... OMIM:135900
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Macroglossia ORPHA:583
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, Esophageal varix, W... OMIM:216360
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... OMIM:226990
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Primary amenorrhea, Malabsorption OMIM:600955
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Functional intestinal obstruction, Chronic noninfectious lymphadenopathy, Tricuspid... ORPHA:100079
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Premature graying ... OMIM:256040
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula,... ORPHA:141127
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Flexion contractu... OMIM:230000
Floating-Harbor Syndrome
Thin upper lip vermilion, Hypospadias, Celiac disease, Cryptorchidism, Carious teeth, Glandular h... OMIM:136140
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Es... OMIM:263200
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Esophageal str... OMIM:224230
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Cleft palate, Cardiomyopathy, Congen... ORPHA:158687
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Clitoral hypertrophy, Elevated hemoglobi... OMIM:269700
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Situs inversus totalis, Coiled sperm flagella, Recurrent sinusitis, Short sperm... OMIM:620197
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Gastrointestinal obstr... ORPHA:100078
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Tarp Syndrome
Extramedullary hematopoiesis, Abnormal hair pattern, Micrognathia, Cryptorchidism, Pierre-Robin s... ORPHA:2886
Behçet Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Malabsorption, Orchitis, Splenomegaly, Oral ... ORPHA:117
Ciliary Dyskinesia, Primary, 18
Male infertility, Situs inversus totalis, Recurrent sinusitis, Immotile sperm, Abdominal situs am... OMIM:614874
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Chylomicron Retention Disease
Increased hepatocellular lipid droplets, Acanthocytosis, Myopathy, Fat malabsorption, Steatorrhea... ORPHA:71
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Myopathy, Small intestine carcinoid, Int... ORPHA:100093
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Kaposiform Lymphangiomatosis
Metrorrhagia, Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic ... ORPHA:464329
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Jaundice, Cholestasis, Steatorr... ORPHA:79303
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblast... ORPHA:116
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Facial palsy ORPHA:100084
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep... OMIM:611376
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly ORPHA:391428
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Eosinophilia, Orchitis, Retroperitoneal fibrosis, Abnormality of the ante... ORPHA:449563
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis, Male infertility OMIM:612444
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Hypersplenism, Splenomegaly, Thrombocytopenia, ... ORPHA:77259
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Inte... OMIM:616843
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ciliary Dyskinesia, Primary, 1
Male infertility, Situs inversus totalis, Absent frontal sinuses, Asplenia, Chronic sinusitis OMIM:244400
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomyopath... OMIM:300842
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... ORPHA:139411
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Diarrhea 10, Protein-Losing Enteropathy Type
Micrognathia, Pericardial effusion, Cryptorchidism, Hematochezia, Protein-losing enteropathy, Asc... OMIM:618183
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Clitoral hypertrophy, Decreased fertilit... OMIM:608594
Floating-Harbor Syndrome
Hypospadias, Persistence of primary teeth, Celiac disease, Cryptorchidism, Precocious puberty, Hy... ORPHA:2044
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogeusia, Hypogonadism, Alopecia of scalp, Decreased testicular size OMIM:201100
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Meckel Syndrome, Type 1
External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu... OMIM:249000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma... OMIM:617718
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Protein... OMIM:619991
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnor... ORPHA:449432
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Plasminogen Deficiency, Type I
Duodenal ulcer, Periodontitis, Gingivitis, Gingival overgrowth OMIM:217090
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... ORPHA:955
Fanconi Anemia
Micrognathia, Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atria... ORPHA:84
Brucellosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Orchitis, S... ORPHA:1304
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, M... OMIM:620233
Scedosporiosis
Pericarditis, Sinusitis, Abnormal jejunum morphology, Endocarditis ORPHA:449280
Neuroendocrine Tumor Of The Colon
Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morpho... ORPHA:100080
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Microgna... OMIM:245600
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cog8-Cdg
Skeletal muscle atrophy, Protein-losing enteropathy ORPHA:95428
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebrow, Splenomegaly, Microgna... OMIM:252500
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Stomach cancer, Autoimmune thrombocytopenia, Lympha... ORPHA:331235
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocy... ORPHA:3260
Menke-Hennekam Syndrome 2
Thin upper lip vermilion, Duodenal ulcer, Micrognathia, Deep philtrum, Agenesis of permanent teeth OMIM:618333
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopen... OMIM:615934
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pa... OMIM:130650
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Dextrocardia, Situs inversus totalis, Abdominal situs inversus, Chronic sinusitis OMIM:619607
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Apht... OMIM:249100
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased variability in muscle fiber di... OMIM:611881
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl... OMIM:610199
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Hepatoblastoma, Atrial septal defect, Hep... OMIM:312870
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Abnormality o... ORPHA:567
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the dentition, Cardiomegaly, Abnormality of t... ORPHA:349
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Familial Tumoral Calcinosis
Hepatomegaly, Calcification of muscles, Abnormality of the dentition, Splenomegaly, Abnormality o... ORPHA:53715
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... ORPHA:100082
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Myopathy, Hepatic fibrosis, Cirrhosi... ORPHA:14
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, ... OMIM:263700
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Gastritis, Hematemesis, Myocarditis, Medias... ORPHA:73263
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Micrognathia, Cleft lip, Synophrys, Bilateral wrist flexion contr... ORPHA:97297
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Hypospadias, Dextrocardia, Short nail, Camptodactyly of... ORPHA:1662
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hypopigmentation of hair, Pancytopenia, Pericardial effusion, Sple... ORPHA:167
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Malrotation of... ORPHA:264450
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... ORPHA:1517
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormality o... ORPHA:565612
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
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
Okamoto Syndrome
Facial hypertrichosis, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilio... ORPHA:2729
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Enanthema, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbla... ORPHA:171
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo... OMIM:243800
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen... OMIM:260920
Tarp Syndrome
Meckel diverticulum, Micrognathia, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neona... OMIM:311900
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodo... OMIM:612132
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:266500
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Malabsorption, Abnormality of the dentition, Splenomegaly, C... ORPHA:93
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... OMIM:155310
Yunis-Varon Syndrome
Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... ORPHA:3472
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymphadenopathy, P... ORPHA:653
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate,... ORPHA:373
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Oral ulcer, Inflammati... OMIM:232220
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Iniencephaly
Congenital diaphragmatic hernia, Orofacial cleft, Narrow mouth, Mandibular aplasia, Arthrogryposi... ORPHA:63259
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary cirrhosis,... OMIM:613471
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto... OMIM:257220
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... ORPHA:822
Farber Disease
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Flexi... ORPHA:333
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficu... ORPHA:308552
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifi... OMIM:107480
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Diastasis recti, Intestinal malrotation, Hiatus hern... OMIM:601776
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Ging... OMIM:153670
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p... ORPHA:892
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Gastro... OMIM:270400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Cry... OMIM:613563
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Trismus, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia OMIM:230900
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Gastroesophage... OMIM:194190
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Deep philtrum, Cardiomegaly OMIM:613320
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolapse, Gastroes... ORPHA:904
Cranioectodermal Dysplasia 2
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hai... OMIM:613610
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Hypospadias, Abnormal heart... ORPHA:1708
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Premature loss of primary t... ORPHA:2908
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Abnormal morphology of female i... ORPHA:538
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Shoulder muscle hypoplasia, Eosinophilia, Microgn... OMIM:274000
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Ciliary Dyskinesia, Primary, 34
Male infertility, Recurrent sinusitis, Immotile sperm OMIM:617091
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... ORPHA:100075
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Pe... OMIM:615846
Crimean-Congo Hemorrhagic Fever
Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytosis, Epidid... ORPHA:99827
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension OMIM:619431
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Abnormal dental enamel morphology, Testicular neoplasm... ORPHA:744
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... OMIM:601214
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Abnormal large intestine morphology, Micrognathia,... ORPHA:109
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Kawasaki Disease
Glossitis, Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis,... ORPHA:2331
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... ORPHA:667
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic valve calcification, Abnormality o... ORPHA:2072
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hydro... OMIM:617088
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Anemia, Paralytic ileus, Melena, Pancrea... OMIM:276700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Anal stenosis, Ventricular septal ... OMIM:606170
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, ... ORPHA:228123
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Male infertility OMIM:614935
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ... ORPHA:228308
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Camurati-Engelmann Disease
Delayed eruption of teeth, Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Carious teeth, Sp... ORPHA:1328
Renal Cysts And Diabetes Syndrome
Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Reduced sperm motility, Bicornu... OMIM:137920
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El... ORPHA:97287
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... ORPHA:365
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Flexion contracture, Lymphadenopathy, Hepatosplenomeg... ORPHA:85408
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Acanthocytosis, Abnormal erythrocyte morphology, Limb-girdle muscu... ORPHA:96180
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Sarcoidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Hemolytic anemia, Facial palsy... ORPHA:797
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... OMIM:163950
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Glandular hypospadias, Cardiomegaly OMIM:620306
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
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
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlarg... ORPHA:79078
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepato... ORPHA:51
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries ORPHA:137675
Blau Syndrome
Pericarditis, Camptodactyly of finger, Facial palsy, Splenomegaly, Xerostomia, Lymphadenopathy, A... ORPHA:90340
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Plague
Hepatomegaly, Chapped lip, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis,... ORPHA:707
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Pericarditis, Lymphopenia, Orchitis, ... ORPHA:99826
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Skeletal muscle atrophy, Oral-pharyngea... OMIM:219800
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Vaginal dryness, Thrombocytopenia, Xerosto... ORPHA:289390
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent sinusitis, Neutropenia... OMIM:607944
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the ... ORPHA:536
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
African Trypanosomiasis
Hepatomegaly, Pericarditis, Alopecia, Abnormality of the menstrual cycle, Myocarditis, Splenomega... ORPHA:3385
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Right ventricular dilatation, High palate, ... OMIM:619472
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Leptospirosis
Hepatomegaly, Pericarditis, Jaundice, Rhabdomyolysis, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:64
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly ORPHA:79280
Chikungunya
Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy ORPHA:324625
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca... ORPHA:51608

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 Fam227b

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 Fam227b.

No publications found that use IMPC mice or data for Fam227b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Fam227btm39433(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fam227btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fam227bem1(IMPC)Ccpcz Exon Deletion Mice
Fam227btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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