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Gene: Pabir2 MGI:1926005

Gene Summary

Name:

PABIR family member 2

Synonyms:

Fam122b, 4632404H22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lymph node morphology	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal tooth color	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal heart morphology	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
hyperactivity	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.19×10^-05
enlarged thymus	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal testis morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal tooth morphology	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal thymus morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal stomach morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
enlarged thymus	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
abnormal spleen morphology	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth color	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
small heart	Pabir2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
enlarged testis	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00
small stomach	Pabir2^{em1(IMPC)Ccpcz}	HEM	Early adult	0.00

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Human diseases caused by Pabir2 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.

Human diseases associated with Pabir2 (0 diseases)
Human diseases predicted to be associated with Pabir2 (789 diseases)

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

The table below shows human diseases predicted to be associated to Pabir2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename...	ORPHA:139474
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Macroorchidism, Open mouth	OMIM:300143
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Lujan-Fryns Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala...	ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Thick lower lip vermilion	OMIM:300238
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Gastroesophageal reflux, Macroorchidism	ORPHA:908
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Kerion Celsi	Lymphadenopathy	ORPHA:499
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Fragile X Syndrome	Mandibular prognathia, Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Partington Syndrome	Macroorchidism	ORPHA:94083
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Everted lower lip vermilion	ORPHA:85286
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidis...	OMIM:618874
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ...	ORPHA:543
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord...	OMIM:309548
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia	ORPHA:251393
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Polyembryoma	Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc...	ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, High palate, Micrognathia	OMIM:300055
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord...	ORPHA:100973
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Everted lower lip vermilion, Macroorchidism, Smooth phi...	ORPHA:324410
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy	ORPHA:42642
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Cardiomyopathy, Thin vermilion border	OMIM:608540
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Ventricular septal defect, Carious teeth, Stereotypical hand wringing,...	OMIM:619229
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Anorexia, Adrenocorticotropic h...	ORPHA:100083
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,...	OMIM:613101
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Mandibular prognathia, Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ...	DECIPHER:39
Acrootoocular Syndrome	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G...	ORPHA:2980
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum...	OMIM:309520
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, Self-injurious behavior, High palate, Retrogna...	OMIM:615637
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora...	OMIM:602450
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Cryptorchidism, Carious teeth, Congenital pyloric atresia, Abnormal pala...	ORPHA:2617
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Anemia	ORPHA:1802
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hypertrophic cardiomyopathy, Hypodontia, Aggressive behavior	OMIM:620270
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Usher Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Microdontia, Hyper...	ORPHA:886
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Trisomy 20P	Macroorchidism, Hypospadias, Micrognathia, Abnormality of the dentition, Cryptorchidism, Downturn...	ORPHA:261318
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anor...	ORPHA:507
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Recurrent sinusitis, Absent circulating ...	OMIM:620282
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia, Aggress...	OMIM:618342
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple...	OMIM:209950
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy	OMIM:611762
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Increased fecal coproporph...	OMIM:263700
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cyclic Neutropenia	Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Cervical lymphaden...	ORPHA:2686
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis	OMIM:240500
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm...	OMIM:613987
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Enamel-Renal Syndrome	Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ...	ORPHA:1031
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ...	OMIM:150550
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Abnormal heart valve morphology, Grayish enamel, Carious tee...	OMIM:253000
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis	ORPHA:3055
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Abnormality of the dentition,...	ORPHA:582
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Abnormality of dental color	OMIM:163200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Chronic si...	ORPHA:397596
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy...	OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Roifman Syndrome	Thin upper lip vermilion, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, ...	OMIM:616651
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen...	ORPHA:277
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, M...	ORPHA:93
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia	ORPHA:1046
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced tee...	OMIM:253010
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Thin upper lip vermilion, High palate, Pyloric stenosis	ORPHA:314575
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Acrofacial Dysostosis, Catania Type	Carious teeth, Cryptorchidism, Hypospadias	OMIM:101805
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote...	OMIM:235200
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
49,Xxxyy Syndrome	Mandibular prognathia, Decreased serum testosterone concentration, External genital hypoplasia, A...	ORPHA:261534
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Lymphangioma, Mandibular hyperostosis, Open mouth	OMIM:176920
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palat...	OMIM:269920
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa...	OMIM:612714
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te...	OMIM:614880
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ...	OMIM:618165
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis	OMIM:602390
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Gaucher Disease Type 2	Splenomegaly, Dysphagia, Hepatomegaly	ORPHA:77260
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia, Micrognathia	OMIM:188025
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel...	ORPHA:169090
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia	OMIM:620210
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m...	ORPHA:61
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach	OMIM:114500
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Intellectual Developmental Disorder, Autosomal Recessive 39	Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior	OMIM:615541
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Roifman Syndrome	Thin upper lip vermilion, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Downturned...	ORPHA:353298
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:301078
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome...	ORPHA:824
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Hypoplastic spleen, Dysphagia	ORPHA:89844
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Microcytic anemia, Deep philtrum, Lymphadenopathy, Hepatosplenomegaly, Hig...	OMIM:619750
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet v...	OMIM:300048
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp...	ORPHA:485405
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, A...	OMIM:610883
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thromboc...	ORPHA:79312
Trichothiodystrophy 3, Photosensitive	Natal tooth, Meckel diverticulum, Carious teeth, Bilateral cryptorchidism, Pyloric stenosis, Neut...	OMIM:616395
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Splenomegaly, Erythrodontia, Hemolytic anemia	ORPHA:95159
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Pyloric s...	ORPHA:96184
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Pyloric stenosis, Enamel hypoplasia	OMIM:226700
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Thick vermilion border, Compulsive behaviors, Attention deficit hyperactivity diso...	OMIM:619927
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Increased stool urobilinogen conc...	ORPHA:79277
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis	ORPHA:664
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Oral ul...	OMIM:618935
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Eclabion, Thin upper lip vermilion, Macroorchidism, Cleft soft palate, Pre...	OMIM:619950
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Deep philtrum, Micronodular ...	OMIM:606003
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormal endocardium morphology, Abnormality of dental color, Abnormal...	ORPHA:666
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Trisomy 18P	Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Thin vermilion bor...	ORPHA:1715
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia, Micropenis	OMIM:602361
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Thick vermi...	OMIM:616354
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Felty Syndrome	Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marr...	ORPHA:47612
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymph...	ORPHA:98850
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen...	OMIM:613179
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Everted lower lip vermi...	OMIM:252930
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Central Precocious Puberty In Male	Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn...	ORPHA:649929
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Gingival bleeding, Micropenis, Decreased tes...	ORPHA:335
Thyroid Lymphoma	Goiter, Dysphagia, Lymphadenopathy	ORPHA:97285
Rubinstein-Taybi Syndrome 2	Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ...	OMIM:613684
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
2Q23.1 Microdeletion Syndrome	Hyperactivity, Tented upper lip vermilion, Macrodontia, Cryptorchidism, Polyphagia, Self-injuriou...	ORPHA:228402
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia...	ORPHA:166108
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Hyperactivity, Aggressive behavior, Narrow palate, Recurrent hand flapping...	OMIM:615516
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc...	ORPHA:169154
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Hyposeg...	OMIM:620075
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardial ...	ORPHA:77259
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Agitation, Cardiomyopathy	OMIM:619046
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat...	OMIM:305400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Hyperacti...	OMIM:614294
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Micrognathia, Increased circulating ...	ORPHA:99330
Craniofacial Dyssynostosis With Short Stature	Malar flattening, Hypospadias, Pyloric stenosis, Cryptorchidism	OMIM:218350
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus	OMIM:616589
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Legionnaires Disease	Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenop...	ORPHA:549
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Fg Syndrome 3	Cryptorchidism, Pyloric stenosis	OMIM:300406
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention de...	OMIM:301013
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi...	OMIM:226990
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Myopathy, Centronuclear, X-Linked	Cryptorchidism, High palate, Pyloric stenosis, Dental malocclusion	OMIM:310400
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leu...	ORPHA:520
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Muir-Torre Syndrome	Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A...	ORPHA:587
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Vagina...	ORPHA:79409
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Dysphagia, Lymphadenopathy	ORPHA:142
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Sialuria	Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp...	OMIM:269921
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th...	ORPHA:290
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent...	ORPHA:79665
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Decreased response to growth hormo...	OMIM:602782
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Spleno...	ORPHA:744
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute le...	ORPHA:99812
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ...	OMIM:614841
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibr...	OMIM:615630
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo...	ORPHA:2136
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hypertrophic cardiomy...	ORPHA:2348
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re...	ORPHA:98813
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphang...	OMIM:235255
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ...	ORPHA:64
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Short philtrum, Hypoplastic spleen, Anemia	OMIM:185070
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno...	ORPHA:733
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Bifid scrotum, Tented upper lip vermilion, Hyposp...	OMIM:619148
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cleft upper lip, Conical tooth, Micrognathia, Cryptorchidism, Pyloric steno...	OMIM:263750
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Aspartylglucosaminuria	Hepatomegaly, Hypoplastic frontal sinuses, Thick lower lip vermilion, Vacuolated lymphocytes, Wid...	OMIM:208400
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen...	OMIM:616030
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Splenomegaly, Cleft lip, Jaundice, High palate, Long philtrum, P...	OMIM:251290
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P...	OMIM:608149
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormality of the dentition, Aggressive behavior, Thin vermilion border, Lymphope...	ORPHA:391307
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath...	ORPHA:36412
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Cholestasis, Cirrhosis, Atri...	OMIM:614576
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho...	ORPHA:2357
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple...	ORPHA:781
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch...	ORPHA:514
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Microretrognathia, Hepatomegaly, Ventricular septal defect, Splenomegaly, Micro...	OMIM:619418
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Thro...	ORPHA:50918
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Macroglossia	ORPHA:583
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Compulsive be...	OMIM:300842
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia	OMIM:619036
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect...	OMIM:235510
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Cholestasis, Lym...	OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Distal Duplication 17Q	Accessory spleen, Thin upper lip vermilion, Hyperactivity, Micrognathia, Cryptorchidism, Cleft pa...	ORPHA:3379
Wilson Disease	Hepatomegaly, Aggressive behavior, Splenomegaly, Thrombocytopenia, Jaundice, Hypersexuality, Hepa...	ORPHA:905
Marden-Walker Syndrome	Hypospadias, Micrognathia, High, narrow palate, Cryptorchidism, Pyloric stenosis, Cleft palate, Z...	OMIM:248700
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Fg Syndrome Type 1	Dental crowding, Hypospadias, Abnormal large intestine morphology, Micrognathia, Malrotation of c...	ORPHA:93932
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatos...	ORPHA:1333
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Micrognathia, Cardiomegaly, Splenomegaly, Thrombocytop...	OMIM:608013
Scheie Syndrome	Hepatomegaly, Splenomegaly, Wide mouth, Thick vermilion border, Everted lower lip vermilion	ORPHA:93474
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ulcer, Leukocytosis, Dila...	OMIM:615688
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia	ORPHA:2728
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, Lymph node hypoplasia, T lymphocy...	OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100080
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Bone marrow hypocellularity, Oral leukoplakia	OMIM:616353
Zellweger Syndrome	Hepatomegaly, Hypospadias, Micrognathia, Malabsorption, Cryptorchidism, Pyloric stenosis, Jaundic...	ORPHA:912
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu...	OMIM:617052
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the...	OMIM:208540
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card...	OMIM:230500
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden...	ORPHA:247806
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus,...	OMIM:601186
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy	ORPHA:343
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Koolen-De Vries Syndrome	Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate...	ORPHA:96169
Stankiewicz-Isidor Syndrome	Hyperactivity, Ventricular septal defect, Micrognathia, Cryptorchidism, Pineal cyst, Truncus arte...	OMIM:617516
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Pa...	ORPHA:1655
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:278000
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion...	ORPHA:261494
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Thrombocytopenia, Calvarial osteoscleros...	OMIM:259700
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Splenomegaly, Thick lower lip ver...	OMIM:252940
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Enamel hypoplasia, Congenital pyloric atresia, Oral mucosal blisters	OMIM:226730
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Cry...	OMIM:619718
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Thick low...	OMIM:309900
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen...	OMIM:260920
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat...	ORPHA:400
Prolidase Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, High palate, Prolonged neonatal jaund...	OMIM:170100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Graft Versus Host Disease	Trismus, Jaundice, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagoc...	ORPHA:39812
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col...	OMIM:175100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Decreased fertility, Ectopic anus, Breast ...	ORPHA:3138
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Oral ulcer, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolyti...	ORPHA:93552
Poikiloderma With Neutropenia	Micrognathia, Carious teeth, Splenomegaly, Neutropenia, Leukopenia, Recurrent sinusitis, Long phi...	OMIM:604173
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Anorexia, Splenomegaly, Lymphadenopa...	ORPHA:33226
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas...	ORPHA:540
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Hepatomegaly, Absent platelet dense granules, Carious teeth, Splenomega...	OMIM:608233
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Hyperactivity, Aggressive behavior, Mitral valve prolapse, Self-injurious ...	ORPHA:449291
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Hepatic fibrosis, Bone marrow...	OMIM:224230
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Thick lower...	ORPHA:579
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Micrognathia	ORPHA:3035
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo...	OMIM:615577
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100082
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pericardia...	ORPHA:464329
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Gingival overgrowth, Dysphagia, Sea-blue histiocyt...	OMIM:230600
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp...	ORPHA:97287
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, M...	OMIM:620233
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Pyloric stenosis, Hypoplasia of...	OMIM:618419
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Hepatic steatosis, Absent vas deferens, Hypospadias, Diabetes mellitus, Py...	ORPHA:93111
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia, Retrognathia, Smooth philtrum	OMIM:617050
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
8P11.2 Deletion Syndrome	Hemolytic anemia, Micrognathia, Splenomegaly, Cryptorchidism, Spherocytosis, Mitral valve prolaps...	ORPHA:251066
Mucopolysaccharidosis Type 2	Hepatomegaly, Hyperactivity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology...	ORPHA:580
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Pyloric stenosis	ORPHA:169189
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia...	ORPHA:167
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingival bleeding...	OMIM:153670
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Atypical or prolonged he...	ORPHA:83471
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Sple...	ORPHA:53035
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p...	ORPHA:667
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Hypospadias, Intestinal malrotation, Cleft upper lip, Micrognathi...	OMIM:305450
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Hypospadias, Cryptorchidism, Thick lower lip vermilion, C...	ORPHA:3063
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto...	OMIM:257220
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism...	OMIM:603457
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Lesch-Nyhan Syndrome	Testicular atrophy, Dysphagia, Megaloblastic anemia	OMIM:300322
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Micrognathia, Cleft upper lip, ...	OMIM:122470
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Anemia, Dysphagia, Thrombocytopenia	OMIM:230900
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Familial Mediterranean Fever	Pericarditis, Orchitis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Ascites, Oral l...	ORPHA:342
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar...	ORPHA:32960
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Micrognathia, Pyloric stenosis, Rectal prolapse, Hypoplasia...	OMIM:613177
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Incr...	ORPHA:2905
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Gingival overgrowth...	OMIM:135500
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, Diabetes mellitus, Maturity-onset diabetes of the yo...	ORPHA:96149
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
H Syndrome	Microcytic anemia, Cleft upper lip, Gingival overgrowth, Lymphadenopathy, Hepatosplenomegaly, Dec...	ORPHA:168569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Thin vermilion border, Pyloric stenosis	OMIM:614438
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Esophageal atresia, Pyloric ste...	OMIM:101200
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis, Carious teeth, Esop...	ORPHA:2908
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Anorexia, Hypersplenism, Splenomegaly, Leukocytosis, T...	ORPHA:1304
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Gingival...	ORPHA:729
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri...	ORPHA:449432
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepa...	OMIM:610199
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lymphadenopath...	ORPHA:2331
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Aphthous ulcer, P...	OMIM:249100
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Abnormal circulating follicle-stimulating hormone co...	ORPHA:93325
Maternal Phenylketonuria	Hyperactivity, Ventricular septal defect, Micrognathia, Abnormal heart morphology, High palate, H...	ORPHA:2209
Lymphatic Malformation 6	Micrognathia, Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, ...	OMIM:616843
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Jacobsen Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Pyloric stenosis, Annular pancreas, Clitoral hypoplasi...	OMIM:147791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Aplasia of the th...	OMIM:102700
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Decreased testicular size, Pancytopenia, Hypospadias, Phimosis, Carious t...	OMIM:305000
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Polydipsia, Anemia	OMIM:239200
Behçet Disease	Pericarditis, Anorexia, Orchitis, Splenomegaly, Oral ulcer, Endocarditis, Lymphadenopathy, Recurr...	ORPHA:117
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, P...	OMIM:269700
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M...	OMIM:613610
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia	OMIM:612132
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Polycystic ova...	OMIM:608594
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Maternal diabetes, Cleft ...	ORPHA:1199
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hypod...	OMIM:617088
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repe...	ORPHA:353281
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Gingivitis, Periodontitis, Dysphagia...	OMIM:173650
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome...	OMIM:181000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Anorexia, Carious teeth, Splenomegaly, Craniofacial oste...	ORPHA:1328
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Polydipsia, Cholangitis, Portal hypertension, Micrognathia, Hypersplenism, Sp...	ORPHA:731
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Anorexia, Pericardial effusion, Spl...	ORPHA:99827
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Intestinal atresia, Congenital pyloric atresia, Oral mucosal blisters	ORPHA:79403
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Gastroesophageal reflux, Advanced eruption of teeth, Abnormal ...	ORPHA:818
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Oral ulcer, Neutropeni...	OMIM:232220
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent sinusitis, Neutropenia...	OMIM:607944
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Gastro...	OMIM:270400
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s...	ORPHA:100078
Jacobsen Syndrome	Smooth philtrum, Intestinal malrotation, Cryptorchidism, Thrombocytopenia, Pyloric stenosis, Duod...	ORPHA:2308
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Anorexia, Ovarian neopla...	ORPHA:100079
Choreoacanthocytosis	Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Temporomandibular ...	ORPHA:2388
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Systemic Lupus Erythematosus	Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Frontometaphyseal Dysplasia 2	Cryptorchidism, Deep philtrum, Pierre-Robin sequence, Pyloric stenosis, Cleft palate, Ulcerative ...	OMIM:617137
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Steinert Myotonic Dystrophy	Endometrial carcinoma, Tented upper lip vermilion, Diabetes mellitus, Decreased response to growt...	ORPHA:273
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroe...	OMIM:619488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Cryptorchidism, Pylori...	ORPHA:83617
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia	OMIM:180920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in...	ORPHA:37042
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Ascites, Pulmonary lympha...	ORPHA:538
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Oral ulcer...	OMIM:619381
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormality of the ante...	ORPHA:449563
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Cleft soft palate, Decreased response to growth hormone stimulation test, Premature ...	ORPHA:268261
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Pylo...	OMIM:617402
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Coccidioidomycosis	Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, ...	ORPHA:228123
Malakoplakia	Orchitis, Abnormality of the tongue, Follicular hyperplasia	ORPHA:556
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pancreatic islet-cell hyperplasia, Cirrh...	OMIM:276700
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia, Thick lower lip ve...	OMIM:256040
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the spleen, N...	ORPHA:1606
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog...	ORPHA:449395
Plague	Chapped lip, Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenter...	ORPHA:707
Blau Syndrome	Pericarditis, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland mo...	ORPHA:90340
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Lip telangiectasia, Cholestasis, Lymphop...	OMIM:613471
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Williams Syndrome	Hypoplasia of penis, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Hypothy...	ORPHA:904
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Imperfo...	OMIM:181450
Cornelia De Lange Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia...	ORPHA:199
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Anorexia, Aggressive behavior, Orchitis, Jaundice, Ne...	ORPHA:99826
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Abnormal tongue morphology, Primary hyperpa...	ORPHA:653
Leptospirosis	Hepatomegaly, Pericarditis, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Knobloch Syndrome 2	Pyloric stenosis, Enamel hypoplasia, Micrognathia	OMIM:618458
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Riddle Syndrome	Generalized lymphadenopathy, Chronic sinusitis, Recurrent sinusitis	ORPHA:420741
Chikungunya	Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy	ORPHA:324625
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Cleft upper lip, Micrognathia, Abnormality of the dentition, L...	OMIM:113620
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Biliary cirrhosis, Lymphadenopathy...	ORPHA:289390
Viss Syndrome	Microretrognathia, Chronic gastritis, Duodenitis, Cleft soft palate, Intestinal malrotation, Micr...	OMIM:619472
Mowat-Wilson Syndrome	Delayed eruption of teeth, Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nippl...	OMIM:235730
African Trypanosomiasis	Hepatomegaly, Pericarditis, Aggressive behavior, Splenomegaly, Jaundice, Myocarditis, Hepatosplen...	ORPHA:3385
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Asplenia, Gastrointesti...	ORPHA:2152
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Asplenia, Short philtru...	ORPHA:261537
Microphthalmia, Syndromic 1	Dental crowding, Hypospadias, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Crypto...	OMIM:309800
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700

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 Pabir2

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 Pabir2.

No publications found that use IMPC mice or data for Pabir2.

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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
Pabir2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pabir2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pabir2 MGI:1926005

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Human diseases caused by Pabir2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data