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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 epididymis Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal mammary gland morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
female infertility Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal epididymis morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal ileum morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal colon morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
male infertility Fam227bem1(IMPC)Ccpcz HOM Early adult 0.00
increased grip strength Fam227bem1(IMPC)Ccpcz HOM Early adult 4.11×10-05
abnormal jejunum morphology 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 Hind Leg and Hip

30 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 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 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
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopat... ORPHA:100025
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnorma... ORPHA:543
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Thrombocytosis... OMIM:243150
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Oral ulcer, Ileitis OMIM:618287
Premature Ovarian Failure 2B
Abnormality of the dentition, Female infertility, Premature ovarian insufficiency, Primary amenor... OMIM:300604
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Hepatomegaly, Joint contracture, Thin v... OMIM:608540
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:319487
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:97290
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguous, Intestinal malr... ORPHA:244
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Abnormal intestine morphology, Lymphadeno... ORPHA:397596
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Ethanolaminosis
Cardiomegaly OMIM:227150
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypo... OMIM:235200
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Infantile Sialic Acid Storage Disease
Fair hair, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lym... OMIM:269920
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lymph node morphology, Hypogonadis... ORPHA:85450
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, 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
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Down Syndrome
Narrow mouth, Protruding tongue, Open mouth, Acute megakaryocytic leukemia, Ventricular septal de... ORPHA:870
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p... ORPHA:26790
Fryns Syndrome
Hypospadias, Gastroesophageal reflux, Non-midline cleft of the upper lip, Long philtrum, Intestin... ORPHA:2059
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Se... OMIM:613313
Feingold Syndrome
Annular pancreas, Abnormality of the spleen, Micrognathia, Orofacial cleft, Esophageal atresia, D... ORPHA:1305
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Duodenal atresia, Polysplenia OMIM:617784
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... ORPHA:2198
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Micrognathia, M... OMIM:235255
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morpholog... ORPHA:83469
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasi... ORPHA:1655
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Recur... OMIM:300853
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Decreased libido, Portal hypertension, Splenomegaly, Cardi... ORPHA:465508
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Macroglossia, Glo... ORPHA:2221
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Roifman Syndrome
Prominent eyelashes, Downturned corners of mouth, Long philtrum, Hepatosplenomegaly, Hip contract... ORPHA:353298
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Ascites, Absent frontal sinuses, Hypodontia, ... OMIM:253250
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... OMIM:121300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... OMIM:618935
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A... OMIM:229850
Microform Holoprosencephaly
Hypoplasia of penis, Tetralogy of Fallot, Panhypopituitarism, Tented upper lip vermilion, EMG: my... ORPHA:280200
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Cryptorchidism, Oligodontia,... OMIM:618440
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Thin vermilion border, Hypoplasia of p... ORPHA:1046
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypogonadism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal a... OMIM:300514
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... OMIM:612714
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Dysphagia, Splenomegaly ORPHA:77260
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed tongue, Stom... ORPHA:2930
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicuspid aortic va... OMIM:265380
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Chronic sinusitis, Abnormal T cell morphology OMIM:613502
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Lymphadenopathy ORPHA:42642
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Roifman Syndrome
Prominent eyelashes, Downturned corners of mouth, Long philtrum, Splenomegaly, Hip contracture, V... OMIM:616651
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
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
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Immunodeficiency 115 With Autoinflammation
Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal lymphangiectasia, Splenomegaly, D... OMIM:620632
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Intellectual Developmental Disorder, Autosomal Recessive 41
Retrognathia, Splenomegaly, Hepatomegaly, High palate, Mandibular prognathia OMIM:615637
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial se... OMIM:235510
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,... OMIM:616100
Zimmermann-Laband Syndrome
Bifid uvula, Facial hypertrichosis, Abnormal external genitalia, Micrognathia, Anterior open-bite... ORPHA:3473
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep... ORPHA:3386
Mosaic Variegated Aneuploidy Syndrome 1
Leukemia, Long philtrum, Bifid scrotum, Micrognathia, Malar flattening, Cryptorchidism, Triangula... OMIM:257300
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxilla,... OMIM:300280
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized hir... ORPHA:2348
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Micrognathia, Jejunal atresi... OMIM:164280
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Cholestasis, Ascites, Cryptorchidism, Hepatomegaly, Pe... OMIM:608104
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Lymphadenopathy... OMIM:240500
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Micrognathia, Myopathy, Jejunal atresia, Wide mouth, Du... OMIM:243605
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Absence of lymph ... OMIM:608184
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricul... ORPHA:139466
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,... OMIM:603467
Anaplastic Thyroid Carcinoma
Goiter, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Lymphadenopathy, Nodular ... ORPHA:142
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuo... OMIM:256550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Incr... OMIM:300048
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lymphadenopathy, High palat... OMIM:619750
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Protruding tongue, Mitral valve prolapse... ORPHA:324410
Classic Mycosis Fungoides
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:2584
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... ORPHA:1666
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha... ORPHA:363444
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia OMIM:616744
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Ventricular septal defect, Gastr... OMIM:617798
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ov... ORPHA:79083
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Hypertrichosis, Splenomegaly, Broad ph... OMIM:616354
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Long philtrum, Micrognathia, Ventricular septal d... OMIM:617022
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Adams-Oliver Syndrome 5
Dystrophic toenail, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pu... OMIM:616028
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hype... OMIM:603909
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, Autoimmune hemolytic an... ORPHA:100026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Leishmaniasis
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophili... OMIM:304790
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Abnormality... ORPHA:93476
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Recurrent aphthous stomatitis, Leukocytosis, Lymphadenopathy OMIM:611762
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix ORPHA:75233
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Meckel diverticulum, Bilateral cryptorchidism, Trichorrhexis nodosa, ... OMIM:616395
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Ventricular septal defect, Truncus arteriosu... OMIM:616589
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Sparse hair, Enamel hypoplasia, Cardiomegaly OMIM:613576
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal d... OMIM:618652
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusiti... OMIM:620438
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Abnormal hea... OMIM:247200
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ... OMIM:607594
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Ileus, Splenome... ORPHA:163746
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Cleft palate OMIM:620210
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Dilated cardi... OMIM:615895
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, ... OMIM:252920
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, A... ORPHA:85451
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Splenomeg... OMIM:614700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ... ORPHA:54251
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph node... ORPHA:98813
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Lymphadenopathy, Neutropenia... OMIM:150550
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... ORPHA:1759
Mogs-Cdg
Alopecia, Retrognathia, Fair hair, External genital hypoplasia, Hepatosplenomegaly, Long eyelashe... ORPHA:79330
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Primary amenorrhea, Hepatomegaly OMIM:612526
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Cardiomyopath... ORPHA:264580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motili... OMIM:620356
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Skeletal muscle atrophy, Splenomegaly, Hepatomegaly OMIM:616719
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Lymphangi... OMIM:602579
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Sézary Syndrome
Alopecia, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, ... ORPHA:3162
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Skeletal muscle atrophy, Hepatosplenomegaly, Splenomegaly, Prolonged n... OMIM:616828
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Patchy alopecia, Lymphadenopathy, N... OMIM:615387
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Ciliary Dyskinesia, Primary, 14
Polysplenia, Situs inversus totalis, Chronic sinusitis, Immotile sperm, Reduced sperm motility, M... OMIM:613807
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn... ORPHA:398063
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Ascites, Pancytopenia, Hepatosplenomegaly, Hypersplenism, Leukocytos... ORPHA:98850
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Alopecia, Hemolytic anemia, Leu... ORPHA:809
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy OMIM:614096
Immunodeficiency 31C
Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Villous atrophy, Splenomegaly, ... OMIM:614162
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Hypertrichosis, Muscular ventricular septal defect, Submucous cleft hard palate, Lo... OMIM:619227
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Congenital diaphr... ORPHA:2470
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, V... OMIM:606367
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb... ORPHA:85212
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Intestinal obstruction, Abdominal mass, Abnor... ORPHA:160
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Synophrys OMIM:190440
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, Sinusitis, B lymphocytopenia, Absent tonsils,... ORPHA:277
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Impotence OMIM:268800
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Limb hypertonia, Thic... OMIM:613489
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Myopathy, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcifica... ORPHA:169090
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Abnor... ORPHA:51636
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Fine hair,... ORPHA:96149
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Intestinal polyp... ORPHA:1052
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Secondary Short Bowel Syndrome
Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo... ORPHA:95427
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Lig4 Syndrome
Acute leukemia, Pancytopenia, Micrognathia, Leukocytosis, Cryptorchidism, Low anterior hairline, ... ORPHA:99812
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Gingivitis, Premature loss of teeth OMIM:618107
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Sialuria
Long philtrum, Splenomegaly, Hirsutism, Thin upper lip vermilion, Smooth philtrum, Hypoplastic ni... OMIM:269921
Alg1-Cdg
Abnormal heart morphology, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... ORPHA:79327
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Everted upper lip vermilion, Retrognathia, Ascites, Hepatospl... OMIM:608013
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepato... OMIM:257200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Ascites, Pericardial effusion, Villous atrophy, Splenomegaly, Atrial septal defect... OMIM:608776
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Intestinal obstruction, Peritonitis, ... ORPHA:343
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Ascites... ORPHA:2136
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Hypoplasia of the uterus, Femal... OMIM:110100
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Recurrent sinusitis, Prostatitis, Neutropenia, B lymphocyto... OMIM:300755
Classic Galactosemia
Ascites, Cryptorchidism, Premature ovarian insufficiency, Abnormal erythrocyte enzyme concentrati... ORPHA:79239
Alg6-Cdg
Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice ORPHA:79320
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Fg Syndrome Type 1
Micrognathia, Open mouth, Cryptorchidism, Frontal upsweep of hair, Mitral valve prolapse, Progres... ORPHA:93932
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal... OMIM:618892
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Myopathy, Amelogenesis imperfecta, Abnormal lymphocyte... OMIM:612783
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Oral ulcer, L... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Cholestasis, Pancytopenia, Splenomegaly, Ventr... OMIM:614576
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Cleft lip, Intestinal mal... ORPHA:1199
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Aredyld Syndrome
Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Narrow mouth, Spl... ORPHA:1133
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Ga... ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, He... OMIM:619183
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve... OMIM:309900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Patent foramen ... OMIM:620642
Chronic Granulomatous Disease
Liver abscess, Splenomegaly, Hepatomegaly, Tracheoesophageal fistula, Sinusitis, Gingivitis, Abno... ORPHA:379
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Thymus hyperplasia, Congenital contracture, Micrognathia, Type ... OMIM:619036
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Papa Syndrome
Myositis, Lymphadenopathy, Crohn's disease ORPHA:69126
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis, Synophrys OMIM:618154
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Ventricular se... OMIM:614114
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... ORPHA:231226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Microretrognathia, Polysplenia, Exocrine pancreatic ... OMIM:619418
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Anemia, Abnormality of the gastr... ORPHA:2070
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Ascites, Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defe... OMIM:616897
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Micrognathia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hyp... ORPHA:251066
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Annular pancreas, Lon... ORPHA:2308
Dyskeratosis Congenita
Carious teeth, Periodontitis, White hair, Premature graying of hair, Displacement of the urethral... ORPHA:1775
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Skeletal muscle atrophy, Splenomegaly, Rhabdomyolysis, ... ORPHA:79240
Cystic Fibrosis
Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, C... OMIM:219700
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ... ORPHA:79456
Graft Versus Host Disease
Skeletal muscle atrophy, Hemophagocytosis, Hepatosplenomegaly, Chronic hepatitis, Dupuytren contr... ORPHA:39812
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Alpha-Thalassemia
Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala... ORPHA:846
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Medial flaring of the eyebrow, Intes... OMIM:617602
Focal Dermal Hypoplasia
Abnormality of the dentition, Alopecia, Gastroesophageal reflux, Tooth agenesis, Open bite, Abnor... ORPHA:2092
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Macrocephaly/Autism Syndrome
Coarse hair, Long philtrum, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palat... OMIM:605309
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Thyroid Lymphoma
Dysphagia, Lymphadenopathy, Goiter ORPHA:97285
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle atrophy, Narrow mouth, Ma... ORPHA:2463
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestinal tract, G... ORPHA:33276
Diets-Jongmans Syndrome
Wide mouth, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Thin uppe... OMIM:618846
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Myositis, Peritonitis, Abnormal myo... ORPHA:32960
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Dysphagi... ORPHA:1332
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Microgn... OMIM:613680
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux, Thick vermilion border ORPHA:3137
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Splenomegaly ORPHA:3035
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Everted lower lip vermilion, Hepatomegaly, ... OMIM:252930
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
H Syndrome
Alopecia, Cleft upper lip, Hypertrichosis, Hypogonadism, Decreased testicular size, Hepatosplenom... ORPHA:168569
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Gastroesophageal reflux, Cleft lip, Annular pancreas, Furrowed tongue, Mic... OMIM:616975
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... ORPHA:231214
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy, Lymphadenopathy, Macroglossia, Cheilitis ORPHA:2483
Glycogen Storage Disease Ixb
Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Thick lower lip vermilion, Thick upper l... OMIM:239850
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Gingival overgrowth, Abnormal fallopian tube morphology,... ORPHA:722
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Sp... OMIM:301078
Congenital Bile Acid Synthesis Defect Type 3
Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation ORPHA:79302
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Pediatric Systemic Lupus Erythematosus
Alopecia, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Oral ulcer, Myosit... ORPHA:93552
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Feingold Syndrome Type 1
Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventricular septal defects, Micr... ORPHA:391641
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Myopathy, Neutropenia, Hepatomegaly,... OMIM:612541
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... OMIM:129400
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Cryptorchidism, Abnormality of the gas... ORPHA:2241
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypog... ORPHA:2905
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Nail ... OMIM:175500
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopath... ORPHA:540
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Inguinal lymphadenopathy, Cervical lymphadenopathy, Anemia OMIM:620514
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H... ORPHA:79319
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:613179
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Duodenal Atresia
Duodenal atresia OMIM:223400
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... OMIM:618086
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Multiple joint... ORPHA:464306
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... ORPHA:92050
Prolidase Deficiency
Facial hirsutism, Micrognathia, Splenomegaly, Low posterior hairline, Hepatomegaly, Prolonged neo... OMIM:170100
Malakoplakia
Abnormality of the menstrual cycle, Neoplasm of the colon, Follicular hyperplasia, Orchitis, Neop... ORPHA:556
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... OMIM:607626
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Diastasis recti, Splenomega... OMIM:608149
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
45,X/46,Xy Mixed Gonadal Dysgenesis
Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Streak ovary, Low posterior hairline, ... ORPHA:1772
Trichohepatoenteric Syndrome 1
Cholestasis, Narrow mouth, Ventricular septal defect, Cirrhosis, Curly hair, Brittle hair, Hepato... OMIM:222470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Hypertrophic cardiomyopathy, Micrognathia, Splenomegaly, Hepatic steat... ORPHA:280365
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Pan... OMIM:600001
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Hemolytic anemia, Chronic hepatitis, Splenomega... OMIM:308230
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ul... OMIM:620376
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis, Male infertility OMIM:300991
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Gingival overgrowth, Leukopenia, Leukocytosis, Metrorrhagia, Lym... ORPHA:520
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... OMIM:232300
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Familial Mediterranean Fever
Oral leukoplakia, Ascites, Gastrointestinal infarctions, Leukocytosis, Splenomegaly, Intestinal o... ORPHA:342
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Gardner Syndrome
Abnormality of the dentition, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Prostate... ORPHA:79665
Tangier Disease
Distal amyotrophy, Facial diplegia, Nail dystrophy, Splenomegaly, Left ventricular hypertrophy, H... OMIM:205400
Pseudo-Torch Syndrome 1
Cleft lip, Microretrognathia, Long philtrum, Splenomegaly, Patent foramen ovale, Thrombocytopenia... OMIM:251290
Beck-Fahrner Syndrome
Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Facial hypotonia, High palate OMIM:618798
Kikuchi-Fujimoto Disease
Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of pa... ORPHA:50918
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Microretrognathia, Long philtrum, Decreased muscle mass, A... ORPHA:2953
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly, Aphthous ul... OMIM:615688
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly... ORPHA:91138
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E... OMIM:618052
Congenital Syphilis
Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal ... ORPHA:499009
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Gastroesophageal reflux, Cryptorchidism, Poster... ORPHA:464311
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Microretrognathia, Retrognathia, Microphallus, Camptodactyly of finger... ORPHA:468631
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Hepatitis, Ileus, Splenomegaly, Recurrent gastroenteritis, Autoimmune hemolytic anemia,... ORPHA:37042
Wilson Disease
Proximal muscle weakness in lower limbs, Hepatitis, Abnormality of the menstrual cycle, Acute hep... ORPHA:905
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatic steatosis, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepato... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Spondyloocular Syndrome
Abnormality of the dentition, Mitral valve prolapse, Low posterior hairline, Atrial septal defect... OMIM:605822
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Retrognathia, Labial hypertrophy, Micrognathia, Gingival overgrowth, Cryptorc... ORPHA:96191
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardia... ORPHA:36412
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatic amyloidosis, Cervical lymphadenopathy, Myositis, Hepatomegaly OMIM:142680
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Micrognathia, Median cleft palate, Submucous cle... OMIM:301043
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... ORPHA:913
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl... ORPHA:79124
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Coarse hair, Downturned corners of mouth, Long phil... OMIM:616368
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Premature graying of hair OMIM:277175
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Pers... OMIM:147060
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Hepatic steat... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Hepatic steat... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Hepatic steat... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Hepatic steat... ORPHA:881
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Myositis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Sinusitis, ... OMIM:617591
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy, Myopathy, Intestinal carcinoid, Small in... ORPHA:100093
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Widely spaced teeth, Gingival overgrowth, Cryptorchidism, Multiple joint c... OMIM:618143
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Micrognathia, Hepatic s... OMIM:614921
Whipple Disease
Gastrointestinal hemorrhage, Splenomegaly, Myositis, Hepatomegaly, Erectile dysfunction, Myocardi... ORPHA:3452
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Absent axillar... ORPHA:90793
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... OMIM:200995
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fibrosis, Hepato... ORPHA:731
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Dental crowding, Widely spaced teeth, Left ventricu... OMIM:300967
Zimmermann-Laband Syndrome 1
Hepatomegaly, High palate, Gingival fibromatosis, Gastroesophageal reflux, Downturned corners of ... OMIM:135500
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Myocarditis, Ge... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Secundum atrial septal defect, Retrognathia, Skeletal muscle atrophy, Hy... OMIM:608779
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Carious teeth, Gastroesophageal reflux, Periodontiti... OMIM:608233
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Bloom Syndrome
Gastroesophageal reflux, Recurrent tonsillitis, Retrognathia, Neoplasm of the colon, Azoospermia,... ORPHA:125
Desmosterolosis
Bifid uvula, Retrognathia, Intestinal malrotation, Micrognathia, Narrow mouth, Splenomegaly, Subm... ORPHA:35107
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Curly hair, Hepatomegaly, High palate, Cholelithiasis, Gastroesophagea... OMIM:618268
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Mechanical ileus, Adrenocorticotropic ... ORPHA:100079
Coach Syndrome 1
Hepatic fibrosis, Abnormal abdomen morphology, Intrahepatic bile duct dilatation, Portal hyperten... OMIM:216360
Fucosidosis
Thick lower lip vermilion, Absent/hypoplastic paranasal sinuses, Thick eyebrow, Splenomegaly, Car... OMIM:230000
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Epidid... OMIM:256040
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
47,Xyy Syndrome
Varicocele, Azoospermia, Malar flattening, Cryptorchidism, Oligozoospermia, Increased circulating... ORPHA:8
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, Monocytopenia, Thr... OMIM:226990
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic anemia, Paralytic ileus... OMIM:620565
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Cryptorchidism, Congenital diaphragmatic h... OMIM:135900
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ... OMIM:619573
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat... ORPHA:1572
Lethal Acantholytic Erosive Disorder
Natal tooth, Congenital alopecia totalis, Absent hair, Cardiomyopathy, Absent eyelashes, Cardiome... ORPHA:158687
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... OMIM:115197
Mucopolysaccharidosis Type 6
Thick lower lip vermilion, Abnormal heart valve morphology, Splenomegaly, Sinusitis, Macroglossia ORPHA:583
Ciliary Dyskinesia, Primary, 18
Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Immotile sperm, Male infer... OMIM:614874
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Sparse scalp hair, Carious teeth, Aplastic anemia, Oral leukoplakia,... OMIM:224230
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Ascites, Median cl... OMIM:269860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Male infertility, Coiled sperm... OMIM:620197
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m... ORPHA:141127
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma... ORPHA:464329
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Clitoral hypertrophy, Generalized muscular appearance from birth, Hypertrophi... OMIM:269700
Fraser Syndrome 1
Clitoral hypertrophy, Dental crowding, Dental malocclusion, Cleft upper lip, Abnormal heart morph... OMIM:219000
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Micrognathia, Dysphagia, Retrognathia ORPHA:163961
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome,... ORPHA:100078
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... ORPHA:733
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormality of the dentition, Recurrent tonsillitis, Coarse hair, Aden... ORPHA:581
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Thin upper lip vermilion, C... OMIM:601005
Hsd10 Disease, Infantile Type
Cardiomegaly, Gastrointestinal dysmotility, Dysphagia, Hypertrophic cardiomyopathy ORPHA:391428
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ... OMIM:306400
Floating-Harbor Syndrome
Hypospadias, Varicocele, Carious teeth, Downturned corners of mouth, Glandular hypospadias, Long ... OMIM:136140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve pr... OMIM:620233
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... ORPHA:811
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Tarp Syndrome
Extramedullary hematopoiesis, Tetralogy of Fallot, Micrognathia, Thick eyebrow, Cryptorchidism, A... ORPHA:2886
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy ORPHA:100084
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... ORPHA:567983
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal... OMIM:611376
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Ciliary Dyskinesia, Primary, 9
Chronic sinusitis, Situs inversus totalis, Recurrent sinusitis, Male infertility OMIM:612444
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Early balding, Abnormality of canine, Intestinal bleeding, Long philtrum, Thick upper lip vermili... ORPHA:261584
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Abnormality of the lymphatic syste... ORPHA:2035
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Microretrognathia, Hepatic sinusoidal dilatation, Long eyelashes, Tented u... OMIM:620371
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Beckwith-Wiedemann Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Pol... ORPHA:116
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:611490
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Ascites, Micrognathia, Cryptorchidism, Pericardial effu... OMIM:618183
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Waldenström Macroglobulinemia
Gingival bleeding, Normocytic anemia, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Ly... ORPHA:33226
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Atrial septal defect, High palate,... ORPHA:84
Igg4-Related Ophthalmic Disease
Retroperitoneal fibrosis, Abnormality of the sphenoid sinus, Sialadenitis, Orchitis, Abnormality ... ORPHA:449563
Lymphatic Malformation 6
Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Micrognathia, Splenomegaly, Atrial... OMIM:616843
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me... ORPHA:100080
Q Fever
Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom... ORPHA:781
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Myopathy, Rhabdomyolysis, H... OMIM:300842
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Chronic sinusitis, Absent frontal sinuses, Asplenia, Male infertility OMIM:244400
Carney Triad
Gastrointestinal hemorrhage, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosar... ORPHA:139411
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Cardiomyopathy, Generalized muscular appearance from bi... OMIM:608594
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d... ORPHA:955
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph... OMIM:617718
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Long philtrum, Elbow flexion contracture, Micrognathia, Narrow mouth, Thick ey... OMIM:245600
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Plasminogen Deficiency, Type I
Gingivitis, Duodenal ulcer, Periodontitis, Gingival overgrowth OMIM:217090
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Arthrogryposis multiplex congenita, Long philtrum, Progressive alveolar ridge hyp... OMIM:252500
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Orchitis, Abnorm... ORPHA:1304
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Familial Mediterranean Fever
Aphthous ulcer, Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, Neutrophilia,... OMIM:249100
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Scedosporiosis
Abnormal jejunum morphology, Endocarditis, Pericarditis, Sinusitis ORPHA:449280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... OMIM:263200
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hepatic steato... OMIM:619991
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Hypoplasia of the maxilla, Carious teeth, Gastroesophageal reflu... ORPHA:2044
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy, Myositi... OMIM:615934
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Alopecia of scalp, Splenomegaly, Hepatomegaly OMIM:201100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Male infertility OMIM:619607
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Mednik Syndrome
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Cog8-Cdg
Protein-losing enteropathy, Skeletal muscle atrophy ORPHA:95428
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Menke-Hennekam Syndrome 2
Agenesis of permanent teeth, Micrognathia, Thin upper lip vermilion, Deep philtrum, Duodenal ulcer OMIM:618333
Meckel Syndrome, Type 1
Natal tooth, Micrognathia, Cryptorchidism, Anal atresia, Bile duct proliferation, Malformation of... OMIM:249000
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... OMIM:611881
Fucosidosis
Abnormality of the dentition, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly... ORPHA:349
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Neuroendocrine Tumor Of The Rectum
Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me... ORPHA:100082
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Endocarditis, Hepatitis, Myocarditi... ORPHA:73263
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, ... ORPHA:572333
Behçet Disease
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Splenomegaly, Oral ulcer, Orchitis, M... ORPHA:117
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Diastasis recti, Crypto... OMIM:130650
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Long philtrum, Hepatitis, Cholestasis, Portal hypertensi... OMIM:610199
Porphyria, Congenital Erythropoietic
Cholelithiasis, Alopecia, Joint contracture of the hand, Hypertrichosis, Erythrodontia, Splenomeg... OMIM:263700
Von Hippel-Lindau Syndrome
Polycythemia, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Papillary cystadenoma of th... OMIM:193300
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Ventricular... OMIM:300855
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration OMIM:618372
Abetalipoproteinemia
Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Hepatic steatosis, Myopathy, Cardiomegaly, Hep... ORPHA:14
Bohring-Opitz Syndrome
Cholelithiasis, Cleft lip, Annular pancreas, Retrognathia, Congenital contracture, Hypertrichosis... ORPHA:97297
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ... OMIM:617100
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Enanthema, Myocarditis ORPHA:139402
Familial Tumoral Calcinosis
Abnormality of the dentition, Splenomegaly, Abnormal palate morphology, Hepatomegaly, Gingivitis,... ORPHA:53715
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept... ORPHA:567
Restrictive Dermopathy
Microcolon, Sparse eyebrow, Natal tooth, Short nail, Arthrogryposis multiplex congenita, Camptoda... ORPHA:1662
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Cantú Syndrome
Long philtrum, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thic... ORPHA:1517
Okamoto Syndrome
Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ... ORPHA:2729
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ... OMIM:312870
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Dilated cardiomyopathy, Skeletal muscle atrophy, Cervical lymphadenopathy, Hepat... ORPHA:3260
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Abn... ORPHA:565612
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Chédiak-Higashi Syndrome
Gingival bleeding, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Atrophy... ORPHA:167
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Generalized amyotrophy, Hepatitis, Cholestasis, Ascites, Hepato... ORPHA:171
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Port... ORPHA:309854
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Supernumerary tooth, Mul... ORPHA:247806
Ectodermal Dysplasia And Immunodeficiency 2
Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hypodontia, Hepat... OMIM:612132
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Neutr... OMIM:260920
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Retrognathia, Tetralogy of Fallot, Abn... ORPHA:264450
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Hepat... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:617713
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... OMIM:175100
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Abnormal lymph node morphology, Lymphopenia, Adrenal hyp... ORPHA:99889
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Lip telan... OMIM:613471
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Cryptorchidism, Mitral va... OMIM:601776
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Abnormal tongue morphology, Cervical lymphadenopathy, Ganglioneuromat... ORPHA:653
Juvenile Polyposis Syndrome
Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Ju... ORPHA:2929
Yunis-Varon Syndrome
Clitoral hypertrophy, Broad secondary alveolar ridge, Micrognathia, Cryptorchidism, Sparse eyelas... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia,... OMIM:153670
Gray Platelet Syndrome
Menorrhagia, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Iniencephaly
Narrow mouth, Congenital diaphragmatic hernia, Orofacial cleft, Mandibular aplasia, Anal atresia,... ORPHA:63259
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... OMIM:257220
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Glycogen Storage Disease Ib
Inflammation of the large intestine, Splenomegaly, Oral ulcer, Pancreatitis, Neutropenia, Pancrea... OMIM:232220
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Farber Disease
Hepatic fibrosis, Skeletal muscle atrophy, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thromboc... ORPHA:333
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect,... ORPHA:373
Fanconi Anemia, Complementation Group A
Male infertility, Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytope... OMIM:227650
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Orofacial clef... ORPHA:3427
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Right at... ORPHA:57777
Von Hippel-Lindau Disease
Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Distal lower limb muscle weakness, Panc... ORPHA:892
Gaucher Disease, Type Ii
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Trismus, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Zollinger-Elliso... ORPHA:100075
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Highly arched eyebrow, Retrognathia, Long philtrum, Juvenile myelomonocyti... OMIM:613563
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal morphology of female internal genitalia, Ascites, Pulmonary... ORPHA:538
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrop... ORPHA:31150
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries... ORPHA:904
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Deep philtrum OMIM:613320
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cranioectodermal Dysplasia 2
Cholestasis, Micrognathia, Sparse eyelashes, Everted lower lip vermilion, Atrial septal defect, H... OMIM:613610
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventr... OMIM:107480
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Camptodactyly of finger, Abnor... ORPHA:2908
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Frontal upsweep of hair, Cryptorchidism, Ventricular septal defect, Atrial ... OMIM:243800
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hai... OMIM:194190
Polycythemia Vera
Gingival bleeding, Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Splen... ORPHA:729
Primary Hepatic Neuroendocrine Carcinoma
Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra... ORPHA:100085
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Pericardi... OMIM:615846
Mosaic Trisomy 16
Craniofacial asymmetry, Hypospadias, Meckel diverticulum, Anteriorly placed anus, Abnormal heart ... ORPHA:1708
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Epididymitis, Ascites, Lym... ORPHA:99827
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Microcolon OMIM:619362
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Cleft lip, Dental malocclusion, Cryptorchidism, Hypogonadotropic hypogonadism, Hypop... OMIM:603457
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Recurrent sinusitis, Male infertility OMIM:617091
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Myopathy, Cardio... OMIM:261740
Tarp Syndrome
Meckel diverticulum, Tetralogy of Fallot, Micrognathia, Atrial septal defect, High palate, Glosso... OMIM:311900
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Micr... OMIM:274000
Naxos Disease
Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Abnormal heart morphology, Right ventri... OMIM:601214
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Portal hypertension OMIM:619431
Cystic Fibrosis
Gastroesophageal reflux, Absent vas deferens, Meconium ileus, Exocrine pancreatic insufficiency, ... ORPHA:586
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Abnormali... ORPHA:228123
Multiple Myeloma
Anemia, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:29073
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Skeletal muscle atrophy, Long philtrum, Mi... ORPHA:109
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Chronic sinusitis, Scl... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic a... OMIM:137920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality... ORPHA:2072
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Pericardial effusion... OMIM:181000
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, El... ORPHA:97287
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Cheilitis ORPHA:293173
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Median ... OMIM:617088
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Abnormal pulmonary valve morphology, ... ORPHA:667
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abno... ORPHA:228308
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... ORPHA:100086
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Skeletal muscle atrophy, H... ORPHA:1328
Congenital Tracheomalacia
Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec... ORPHA:95430
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Ascites, Hypertrophic cardiomyopathy, Splenomegaly, Pancreatic islet... OMIM:276700
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Male infertility OMIM:614935
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... ORPHA:512
Genitopatellar Syndrome
Small scrotum, Malrotation of small bowel, Anal stenosis, Clitoral hypertrophy, Delayed eruption ... OMIM:606170
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Ileitis, Enterocol... ORPHA:707
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Hepatosplenomegaly, Lymphadenopathy, Anemia, Flexion ... ORPHA:85408
Kawasaki Disease
Strawberry tongue, Abnormality of nail color, Hepatitis, Double outlet right ventricle with subpu... ORPHA:2331
Proteus Syndrome
Carious teeth, Thymus hyperplasia, Long penis, Decreased muscle mass, Tooth agenesis, Abnormal de... ORPHA:744
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Generalized lymphadenopathy, Knee flexion contracture, Hip contracture OMIM:620232
Sarcoidosis
Alopecia, Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Po... ORPHA:797
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Digeorge Syndrome
Micrognathia, Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, High, narr... OMIM:188400
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Male infertility, Hyp... OMIM:163950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ven... ORPHA:365
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Limb hypertonia OMIM:620306
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j... ORPHA:51
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Hepatomegaly, Cleft palate ORPHA:137675
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Gingival overgrowth, Splenomegaly, Thick vermilion b... ORPHA:93
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatitis, Lymphopeni... ORPHA:289390
Blau Syndrome
Xerostomia, Camptodactyly of finger, Abnormality of the liver, Splenomegaly, Facial palsy, Lympha... ORPHA:90340
Neuroblastoma
Anemia, Abdominal mass, Lymphadenopathy, Thrombocytopenia ORPHA:635
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Recurrent sinusitis, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thr... OMIM:607944
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Cystinosis, Nephropathic
Male hypogonadism, Skeletal muscle atrophy, Exocrine pancreatic insufficiency, Splenomegaly, Myop... OMIM:219800
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Hypoplasia of the maxilla, Carious teeth, High... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Bicuspid aortic valve, Cardiomegaly, Retrognathia ORPHA:91387
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
Viss Syndrome
Cleft soft palate, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Contracture of... OMIM:619472
African Trypanosomiasis
Alopecia, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Splenomegaly, Lymp... ORPHA:3385
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Tetralogy of Fallot, Abnormal heart morphology, Patent foramen... ORPHA:980
Systemic Lupus Erythematosus
Alopecia, Leukopenia, Oral ulcer, Abnormal pigmentation of the oral mucosa, Lymphadenopathy, Thro... ORPHA:536
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Alström Syndrome
Testicular fibrosis, Frontal balding, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, ... ORPHA:64
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa, Thick vermilion border ORPHA:79280
Leptospirosis
Hepatitis, Rhabdomyolysis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice, Pericarditis ORPHA:509
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Chikungunya
Gingival bleeding, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Autosomal Recessive Cutis Laxa Type 1
Dilatation of the ventricular cavity, Small bowel diverticula, Pyloric stenosis ORPHA:90349
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Pancreatic calcification, Cardiomegaly, Hepatic calcification, ... 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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