Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology... ORPHA:100025
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux ORPHA:99976
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Oral ulcer, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ... ORPHA:543
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes... OMIM:619608
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis, Oral ulcer, Vaginal mucosal ulceration OMIM:618287
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Abnormality of the dentition, Female infertility, Primary amenor... OMIM:300604
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, High palate, Abnormal Z disk morphology, Increased v... OMIM:618654
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Hepatomegaly, Cardiomyopathy, Micrognathia, Joint contracture, Splenomegal... OMIM:608540
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc... ORPHA:319487
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc... 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
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Primary Ciliary Dyskinesia
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... ORPHA:244
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Hepatosplenomeg... OMIM:613101
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, 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
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Testicul... OMIM:235200
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palate, Ascites, Splenomegaly, Ca... OMIM:269920
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Oral ulcer, Splenomegaly, Microcytic anemia OMIM:618852
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, H... ORPHA:85450
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Amenorrhea, Dila... OMIM:602390
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, 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
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Alopecia of scalp, Aplasia of the thymus, B lymphocytopenia, Oral u... OMIM:602450
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h... OMIM:601346
Down Syndrome
Microdontia, Sparse hair, Narrow palate, Aganglionic megacolon, Abnormality of the dentition, Neu... ORPHA:870
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of... ORPHA:26790
Fryns Syndrome
Congenital diaphragmatic hernia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Abn... ORPHA:2059
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Atrophy of ... ORPHA:2686
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Splenomegaly, Hypogonadism... OMIM:613313
Feingold Syndrome
Orofacial cleft, Annular pancreas, Esophageal atresia, Micrognathia, Abnormality of the spleen, D... ORPHA:1305
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia OMIM:617784
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph... 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, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Ascites, Vent... OMIM:235255
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphang... ORPHA:1655
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Multiple non-erupting secondary teeth, R... OMIM:620277
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Testic... ORPHA:465508
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Glossitis, Abnormal eyebrow morpholo... ORPHA:2221
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Hip contracture, Downturned corners of mouth, Hepa... ORPHA:353298
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Griscelli Syndrome
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey... ORPHA:381
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Mulibrey Nanism
Hepatomegaly, Absent frontal sinuses, Dental crowding, Hypodontia, Ascites, Pericardial constrict... OMIM:253250
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Male infertility, Dextrocardia, Asplenia OMIM:618948
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Oral ulc... OMIM:618935
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ... OMIM:121300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Microform Holoprosencephaly
Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Hypoplasia of penis, ... ORPHA:280200
Fryns Syndrome
Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Wide mouth, Long philtrum, Aganglioni... OMIM:229850
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Oligodontia, Elbow flexion contracture, Low posterior h... OMIM:618440
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Anemia, Hypospadias, Hypoplasia of penis, Narrow mouth, Ascites, Micrognat... ORPHA:1046
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Congenital contracture, Intestinal malrotation, Camptodac... ORPHA:115
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Carious teeth, Exocrine pan... OMIM:612714
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, T... OMIM:300514
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Gaucher Disease Type 2
Flexion contracture, Splenomegaly, Hepatomegaly, Dysphagia ORPHA:77260
Cronkhite-Canada Syndrome
Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Dystrophic to... ORPHA:2930
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic ... OMIM:265380
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:620548
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Chronic sinusitis, Neutropenia OMIM:613502
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Abnormal dental enamel morphology, Oligodonti... ORPHA:59303
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Pfapa Syndrome
Abnormal oral cavity morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit... OMIM:615710
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Ventricular septal defect, Hip contr... OMIM:616651
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
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
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis,... OMIM:602782
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Biliary tract abnormality, Spleno... ORPHA:79301
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right... OMIM:306955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
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
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Intellectual Developmental Disorder, Autosomal Recessive 41
Retrognathia, Hepatomegaly, Mandibular prognathia, High palate, Splenomegaly OMIM:615637
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Narrow palate, Oligodontia, Hirsutism, Camptodactyly, Cryptorchidism, Malar flatten... OMIM:235510
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly, Dysphagia ORPHA:50251
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... OMIM:616100
Zimmermann-Laband Syndrome
Supernumerary tooth, Hepatomegaly, Gingival fibromatosis, Anterior open-bite malocclusion, Abnorm... ORPHA:3473
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... ORPHA:3386
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Hypospadias, Triangular mouth, Bifid scrotum, Pulmonic stenosis, Micrognathia, Cle... OMIM:257300
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Retrognathia, Skeletal muscle hypertrophy, Ventricular hypertrophy, Card... OMIM:300280
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size... ORPHA:2348
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Feingold Syndrome 1
Gastrointestinal atresia, Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory sple... OMIM:164280
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Protein-losing enteropathy, Anemia, Hepatomegaly, Chole... OMIM:608104
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Dextrocardia, Female infertility OMIM:617577
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Pulmonary valve atresia, Atrioven... ORPHA:210122
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth, Jejunal atresia... OMIM:243605
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Recurrent sinusitis, Splenomegaly, Follicul... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Serkal Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Hypospadias, Ventricular septal defect, Pulmoni... ORPHA:139466
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Microphallus, Bone marrow hypocell... OMIM:603467
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Nodular goiter, ... ORPHA:142
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis ORPHA:1802
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti... OMIM:300048
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Alpha-Mannosidosis
Narrow palate, Hepatomegaly, Widely spaced teeth, Craniofacial hyperostosis, Gingival overgrowth,... ORPHA:61
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
Lymphadenopathy, Mandibular prognathia, High palate, Deep philtrum, Hepatosplenomegaly, Microcyti... OMIM:619750
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Abnormal atrioventricular valve morphology, Everted lower lip vermilion, P... ORPHA:324410
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Alopecia ORPHA:2584
Dextrocardia
Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malr... ORPHA:1666
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, High anterior hairline, Premature ovarian insufficiency, Perimembranous ventricular... ORPHA:363444
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Ileal ulcer, Oral ulcer, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Wide mouth, Gastrointestinal dysmotility, Fron... OMIM:617798
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Secondary ameno... ORPHA:79083
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Splenomegal... OMIM:616354
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Torticollis, High palate, Hypoplasia of the thymus, Ventricular sep... OMIM:617022
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Dystrophic toenail, Right atrial enlargement, Portal vein... OMIM:616028
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Recurrent sinusitis, Splenomegaly, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Oral ulcer, Ascit... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Abnormal palate morphology, Hepatomegaly, Anemia, Lymphadenopathy, N... ORPHA:100026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal oral cavity morphology, Pancytopenia, Abnormal ma... ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Alopecia, Decreased FOXP3-expressing T cell count, Hepa... OMIM:304790
Isolated Anencephaly
Thymus hyperplasia, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Abnormal liver parenchyma morphology, Anemi... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Genera... ORPHA:93476
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly OMIM:611762
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ... OMIM:616050
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair OMIM:269600
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Brittle hair, Meckel diverticulum, Tiger tail banding, Bilateral cryptorchi... OMIM:616395
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Neutropenia in prese... ORPHA:436159
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat... ORPHA:158057
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Recurrent sinusi... OMIM:620438
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Downturned corners of mouth, Smooth philtrum, Car... OMIM:618652
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly, Thick upper lip vermilio... OMIM:247200
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hepatomegaly, Aganglionic megacolon, Hypopigmentation of hair, Microco... ORPHA:163746
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect OMIM:620210
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, ... OMIM:615895
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Co... OMIM:252920
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Long penis, Oligozoospermia, Precocious puberty, Macr... ORPHA:3000
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Intestinal pseudo-obstruction, Peritoneal abscess, Colon cancer, Hepat... ORPHA:1333
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased ... ORPHA:98813
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Splenomegaly, Intermittent thr... OMIM:150550
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Mogs-Cdg
Retrognathia, Hepatomegaly, External genital hypoplasia, Alopecia, Hirsutism, High palate, Long e... ORPHA:79330
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Camptoda... ORPHA:1759
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Hepatic steatosis OMIM:612526
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopeni... ORPHA:79477
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Single ventricle, Double inlet left ventri... OMIM:270100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Irregular menstruation,... ORPHA:264580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Lymphangiectasis, Cirrhosis, Hepatomegaly, Hepatic fibro... OMIM:602579
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Giant cell hepatitis, S... OMIM:607765
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Skeletal muscle atrophy, Hepatic fibrosis OMIM:616719
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Sézary Syndrome
Nail dystrophy, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Skel... ORPHA:3162
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Hypere... OMIM:615387
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Male infertility, Chronic sinusitis, Reduced sperm motility, Immotile spe... OMIM:613807
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Abnormality of the lymphatic syst... ORPHA:1414
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Short philtrum, Panc... OMIM:606003
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P... ORPHA:98850
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy OMIM:614096
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G... ORPHA:809
Immunodeficiency 31C
Autoimmune hemolytic anemia, Protein-losing enteropathy, Impaired lymphocyte transformation with ... OMIM:614162
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Muscular ventricular septal defect, Esophageal atresia, Low posterior hairline, Tra... OMIM:619227
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Ske... OMIM:619518
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Patchy alopecia, T lymphocytopen... OMIM:606367
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegal... ORPHA:85212
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Jaundice, Mediastinal lymphade... ORPHA:160
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Synophrys, Long philtrum OMIM:190440
Sandhoff Disease
Hepatomegaly, Impotence, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly, Macroglossia OMIM:268800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Sinusitis, Absence of lymph node germinal center, Lymphopen... ORPHA:277
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Thick hair, Limb hypertonia, Recurrent infection of the gastrointestinal... OMIM:613489
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hypocalci... ORPHA:169090
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Si... ORPHA:51636
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal gastrointestinal tract morphology,... ORPHA:2847
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Enterocolitis, Vol... ORPHA:95427
Distal Deletion 12Q
Supernumerary tooth, High, narrow palate, Annular pancreas, Esophageal atresia, Biliary atresia, ... ORPHA:96149
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neop... ORPHA:1052
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Gastrointestinal infarctions, Jau... ORPHA:131
Lig4 Syndrome
Acute leukemia, Thin vermilion border, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of... ORPHA:99812
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Splenomegaly, Hyperparathyroidism OMIM:618107
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Alg1-Cdg
Abnormal heart morphology, Protein-losing enteropathy, Cardiomyopathy, Abnormality of the gastroi... ORPHA:79327
Sialuria
Hepatomegaly, Hirsutism, High palate, Hypoplastic nipples, Low posterior hairline, Synophrys, Gen... OMIM:269921
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Hepatomegaly, Anemia, Narrow mouth, Ascites, Everted l... OMIM:608013
Proteus-Like Syndrome
Mandibular prognathia, Open bite, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormali... ORPHA:2969
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Pericardial effusion, Wide mouth, Splenomegaly, Long philtrum, Atrial sept... OMIM:608776
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Recurrent aph... ORPHA:343
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, High palate, Sparse pubic hair, Female in... OMIM:110100
Classic Galactosemia
Premature ovarian insufficiency, Jaundice, Hepatomegaly, Male infertility, Secondary amenorrhea, ... ORPHA:79239
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Lymphadenopathy, Short philtrum, Delayed eruption of teeth, Gi... ORPHA:2136
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Cholesteryl Ester Storage Disease
Steatorrhea, Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Esopha... OMIM:278000
Fg Syndrome Type 1
Small pituitary gland, Dental crowding, Wide mouth, Malrotation of colon, Mitral valve prolapse, ... ORPHA:93932
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... OMIM:618892
Alg6-Cdg
Abnormality of the liver, Jaundice, Protein-losing enteropathy, Macroglossia ORPHA:79320
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Necrotizing enterocolitis, Hypertroph... OMIM:201475
Immunodeficiency 10
Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Abnormal lym... OMIM:612783
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Oral ulcer, Leuko... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Cirrhosis, Hepatomegaly, Pancytopenia, Esophageal varix, Cholestasis, Inflammation ... OMIM:614576
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1199
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Bicuspid aortic valve, Long philtrum, Cardiom... ORPHA:363705
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph... ORPHA:1133
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Flexion contr... OMIM:619183
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Thick lower lip vermilion, Widely spaced teeth, Intestinal pseudo-obstruction, Dela... OMIM:309900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Gastric varix, Increased mean corpuscular volume, Esophageal varix, Po... OMIM:620367
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Gingivitis, Tracheoesophageal fistula, ... ORPHA:379
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Micrognath... OMIM:619036
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Synophrys, Hydrocele testis OMIM:618154
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Papa Syndrome
Myositis, Crohn's disease, Lymphadenopathy ORPHA:69126
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Narrow mouth, Micrognathia, Sparse hair, A... OMIM:614114
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Weakness of facial m... OMIM:619418
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Hypersplenism, Jaundice, Hepatocellular carcinom... ORPHA:231226
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Ascit... ORPHA:2070
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Unilateral cleft l... OMIM:616897
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me... OMIM:618394
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Micrognathia, Splenomegaly, Hypogon... ORPHA:251066
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Jacobsen Syndrome
Aplasia/Hypoplasia of the eyebrow, Annular pancreas, Abnormal palate morphology, Ectopic anus, Ve... ORPHA:2308
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Male infertility, Meconium i... OMIM:219700
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anorectal anomaly, Tracheoes... ORPHA:1775
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstruation, Hepatocellular c... ORPHA:79240
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... ORPHA:79456
Graft Versus Host Disease
Gastrointestinal inflammation, Dupuytren contracture, Jaundice, Hemophagocytosis, Lymphadenopathy... ORPHA:39812
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hyperplasia of the maxilla, Jaundice, Anemia, Cholelithias... ORPHA:846
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Medial flaring of the eyebrow, Hypospadia... OMIM:617602
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Gastroesophageal reflux, Duodenal atresia, Alopecia, Abnormal de... ORPHA:2092
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Macrocephaly/Autism Syndrome
Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Long philtrum, Penile freckling, Coarse hai... OMIM:605309
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Hirsutism, High palate, Narrow mouth, Low posterior hairline, Syno... ORPHA:2463
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti... OMIM:212140
Thyroid Lymphoma
Lymphadenopathy, Goiter, Dysphagia ORPHA:97285
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the gastrointestinal tract, Abnormality of the liver, G... ORPHA:33276
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Lymphadenopathy, Myositis, Leukocytosis, Pericarditis, Splenomegaly, Peri... ORPHA:32960
Diets-Jongmans Syndrome