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Gene: Mllt10 MGI:1329038

Gene Summary

Name:

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10

Synonyms:

B130021D15Rik, Af10, D630001B22Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lymph node morphology	Mllt10^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal craniofacial morphology	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged spleen	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal facial morphology	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal ovary morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
decreased lymphocyte cell number	Mllt10^em1(IMPC)Mbp	HET	Early adult	7.04×10^-05
abnormal liver morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
increased neutrophil cell number	Mllt10^em1(IMPC)Mbp	HET	Early adult	1.35×10^-05
abnormal heart morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal neural tube morphology	Mllt10^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal placenta morphology	Mllt10^em1(IMPC)Mbp	HET	E15.5	0.00
microphthalmia	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged heart	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged ovary	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal caudal vertebrae morphology	Mllt10^em1(IMPC)Mbp	HET	Early adult	2.62×10^-09
abnormal auditory brainstem response	Mllt10^em1(IMPC)Mbp	HET	Early adult	5.64×10^-05
preweaning lethality, complete penetrance	Mllt10^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal cecum morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
facial cleft	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged cecum	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Mllt10^em1(IMPC)Mbp	HET	Early adult	0.00
decreased body length	Mllt10^em1(IMPC)Mbp	HET	Early adult	1.30×10^-05
abnormal spleen morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Mllt10^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal skin morphology	Mllt10^em1(IMPC)Mbp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Human diseases caused by Mllt10 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 Mllt10 (1 diseases)
Human diseases predicted to be associated with Mllt10 (1176 diseases)

The table below shows human diseases associated to Mllt10 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukemia, Acute Myeloid		Acute myeloid leukemia	OMIM:601626

The table below shows human diseases predicted to be associated to Mllt10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ...	OMIM:600776
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno...	ORPHA:2869
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Microphthalmia	OMIM:600251
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper...	ORPHA:1104
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, ...	ORPHA:444463
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Anophthalmia, Ventricular septal...	OMIM:615524
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Charcot-Marie-Tooth Disease, Type 4B1	Scoliosis, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial...	OMIM:601382
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Immunodeficiency 104	Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Median cleft palate, Microphthalmia	ORPHA:2432
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Bilateral microphthalmos, Ethmoidal encephalocele, Cleft palate, Optic nerve hypop...	OMIM:607597
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip, Holoprosencep...	OMIM:601357
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Microphthalmia	OMIM:613456
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly	OMIM:611638
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite...	ORPHA:2198
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Mediastinal lymphad...	ORPHA:66661
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Opitz Gbbb Syndrome	Bifid scrotum, Abnormal heart morphology, Ankyloglossia, Cryptorchidism, Patent foramen ovale, Ve...	ORPHA:2745
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cel...	OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk...	OMIM:614470
Congenital Fibrinogen Deficiency	Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Sple...	ORPHA:335
Cerebrooculofacioskeletal Syndrome 3	Cleft palate, Edema, Microphthalmia	OMIM:616570
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce...	OMIM:300853
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia, Abnormal external ...	ORPHA:3469
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Polycystic ova...	ORPHA:1643
Oculomaxillofacial Dysostosis	Tessier cleft, Aplasia/Hypoplasia affecting the eye, Cleft palate	ORPHA:1794
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent...	OMIM:245480
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Otitis ...	OMIM:602450
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Furrowed tongue, Ventricula...	ORPHA:769
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Recurrent otitis media, Lymphopenia, B lymphocytopenia, Ab...	ORPHA:277
Leprechaunism	Megarectum, Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Hypertrophic card...	ORPHA:508
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo...	OMIM:613313
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ...	OMIM:613490
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy	OMIM:618852
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries,...	ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Lo...	OMIM:613101
Cerebrooculonasal Syndrome	Tessier cleft, Anophthalmia	ORPHA:66625
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Unilateral Ocular Duplication	Polyhydramnios, Midline facial cleft, Encephalocele, Cleft palate	ORPHA:3374
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Mosaic Trisomy 9	Tessier cleft, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Hydrops fetalis, Cl...	ORPHA:99776
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp...	OMIM:235200
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 18	Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De...	OMIM:615615
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy	ORPHA:100024
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Recurrent otitis media, Splenomegaly, Decreased proportion of class-switch...	OMIM:607594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Recurrent otitis media, Lymp...	OMIM:618986
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Anophthalmia, Abn...	ORPHA:2470
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Occipital encephalocele, Hydrocephalus, Microphthalmia	ORPHA:324416
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Microphthalmia, Cryptorchidism, Ventricular septal defect	OMIM:613730
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop...	OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Cleft palate	OMIM:239800
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Ovarian Hyperstimulation Syndrome	Ascites, Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati...	ORPHA:64739
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, High palate, Microphthalmia	ORPHA:2528
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia	OMIM:615401
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Hydrocephalus, Microphthalmia, Hydrops fetalis	ORPHA:268249
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate	OMIM:269920
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Sensorineural hearing impairment	OMIM:611762
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ...	OMIM:618805
Congenital Rubella Syndrome	Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Anemia, Atrial septal de...	ORPHA:290
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Hydrocephalus	ORPHA:1647
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Autoimmun...	OMIM:301078
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga...	ORPHA:131
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Acrofacial Dysostosis, Weyers Type	Tessier cleft	ORPHA:952
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin...	OMIM:121300
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa...	OMIM:617519
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri...	ORPHA:314473
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Gastrointestinal carcinoma, Bile duct polyp, Ovarian cyst,...	OMIM:175200
Adams-Oliver Syndrome 4	Microphthalmia, Atrial septal defect, Ventricular septal defect	OMIM:615297
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im...	ORPHA:3226
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Anal...	OMIM:619318
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g...	ORPHA:785
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El...	OMIM:613812
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Meckel Syndrome, Type 8	Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Pericardial effusion, Cleft...	OMIM:613885
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph...	OMIM:618495
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot...	OMIM:600501
Acrofacial Dysostosis, Catania Type	Tessier cleft, Spina bifida occulta	ORPHA:1786
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea...	OMIM:278000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m...	ORPHA:98848
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:545
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl...	ORPHA:91
Hartsfield Syndrome	Non-midline cleft of the upper lip, Encephalocele, Microphthalmia, Lobar holoprosencephaly, Cleft...	ORPHA:2117
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Lymphadenopathy,...	ORPHA:397596
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defec...	OMIM:616589
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries	OMIM:608709
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Otitis media, P...	ORPHA:2686
Nanophthalmos	Microphthalmia	ORPHA:35612
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He...	OMIM:600649
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esophageal ...	ORPHA:75233
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Elevated circulating luteinizing hormone level, Abnormal male external genit...	ORPHA:95699
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia	ORPHA:79477
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Schnitzler Syndrome	Anemia, Leukocytosis, Splenomegaly, Lymphadenopathy	ORPHA:37748
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidat...	OMIM:618935
Immunodeficiency 13	Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv...	OMIM:615518
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Lymphadenopathy, Thromboc...	ORPHA:507
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Frontonasal Dysplasia 2	Tessier number 13 facial cleft, Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Microphthalmia	OMIM:120433
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Unilateral conductive hearing impairment, Sensorineural he...	ORPHA:100084
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Abnormally large globe, Abnormality of the uterus, P...	ORPHA:1655
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia	ORPHA:141333
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Hepatomegaly, High palate, Microphthalmia	OMIM:619053
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at...	ORPHA:77298
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Elevated circula...	OMIM:212140
Nanophthalmos 4	Microphthalmia	OMIM:615972
Roifman Syndrome	Biconvex vertebral bodies, Recurrent otitis media, Splenomegaly, Eosinophilia, Lymphadenopathy, I...	OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm...	ORPHA:454840
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria...	ORPHA:314478
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Distal Deletion 10P	Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate	ORPHA:1580
Hydrolethalus	Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hydrocephalus, Microphthalmia, P...	ORPHA:2189
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag...	ORPHA:2538
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ...	OMIM:617100
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Goiter, Furrowed tongue, Endometrial carcin...	ORPHA:201
Cinca Syndrome	Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme...	ORPHA:1451
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
2Q24 Microdeletion Syndrome	Cleft palate, Microphthalmia	ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Microphthalmia	ORPHA:1236
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Cleft palate	OMIM:217100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Micropenis, Microphthalmia, Hepatomegaly, High palate	OMIM:619185
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Treacher-Collins Syndrome	Tessier cleft, Branchial fistula, Encephalocele, Microphthalmia, Cleft palate	ORPHA:861
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Harderoporphyria	Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hep...	OMIM:618892
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ...	OMIM:618494
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen...	ORPHA:494444
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Kapur-Toriello Syndrome	Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Hypoplastic labia majora,...	ORPHA:2328
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Mulibrey Nanism	Microglossia, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Duodenal stenosis	ORPHA:2547
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy	OMIM:615122
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Esophageal varix, Righ...	OMIM:616028
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Cleft palate	OMIM:620210
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, High palate, Cleft palate, Microphthalmia	ORPHA:1135
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Microphthalmia, Syndromic 8	Cryptorchidism, Cleft palate, Microphthalmia	OMIM:601349
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Microcytic anemia, Hepatosplenomegaly, Short neck, Lymphadenopathy, Scoliosis, Post...	OMIM:619750
Isolated Arrhinia	Tessier cleft, Microphthalmia	ORPHA:1134
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Cleft palate, Microphthalmia	ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy, Microphthalmia	OMIM:613155
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:261272
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Progressive hearing impairment, Cervical lymphadeno...	ORPHA:514
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Os odontoideum, Biconcave vertebral bodies, Sensorineural he...	OMIM:619260
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Roifman Syndrome	Biconvex vertebral bodies, Recurrent otitis media, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy	ORPHA:353298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T...	OMIM:616738
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Otitis media, Autoimmune hemolytic anemia, Splenomegaly, Neut...	OMIM:613179
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Cleft palate, Anencephaly	OMIM:611561
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating as...	OMIM:620609
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Panc...	ORPHA:79083
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C...	ORPHA:465508
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Recurrent otitis media, Lymphopenia, Absent peripheral lymph nodes i...	OMIM:600802
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Meckel Syndrome, Type 2	Intestinal malrotation, Bile duct proliferation, Cleft palate, Microphthalmia	OMIM:603194
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic...	OMIM:617780
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Amyloidosis, Hereditary Systemic 2	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Cat-Eye Syndrome	Anal atresia, Microphthalmia	ORPHA:195
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume	OMIM:301108
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anencephaly, Cleft palate	OMIM:611134
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep...	ORPHA:3386
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Abnormal heart morphology, Intestinal malrotation, Abnormal gastrointestinal tract m...	ORPHA:404440
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microphthalmia, Cleft palate, O...	ORPHA:85284
Preeclampsia	Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ...	ORPHA:275555
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia	OMIM:300887
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase...	ORPHA:231222
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm...	ORPHA:100026
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Trisomy 13	High, narrow palate, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalm...	ORPHA:3378
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ambiguous genitalia, Ventricular septal defect	ORPHA:93267
Pierpont Syndrome	Cryptorchidism, Microphthalmia	ORPHA:487825
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op...	ORPHA:1215
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Biliary tract abnormality, M...	ORPHA:3191
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Microphthalmia	OMIM:600118
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect	OMIM:602501
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr...	ORPHA:2137
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Microphthalmia, Anemia, Narrow palate, Ovarian neoplasm	OMIM:617883
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Umbilical hernia, Congestive heart failure, Microphthalmia, Cleft palate	ORPHA:2505
Fraser Syndrome 1	Tessier cleft, Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hydroceph...	OMIM:219000
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Pierpont Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:602342
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Mic...	OMIM:616395
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Platyspondyly, Recurrent otitis media, Lymphopenia, Lumbar hyperlordosis, T lymphoc...	OMIM:607944
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th...	OMIM:616050
Monosomy 18P	Lymphedema, Microphthalmia, Holoprosencephaly, Hypertension, Cleft palate	ORPHA:1598
3Mc Syndrome 3	Tessier cleft, Cleft palate	OMIM:248340
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Microphthalmia	OMIM:236100
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Aspl...	OMIM:614034
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis	OMIM:619644
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Abnormality of the vertebral column, Sensorineural hearing i...	OMIM:109120
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec...	OMIM:618394
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Fryns Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotation, Cryptorchidism, Aganglionic...	ORPHA:2059
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Tetralogy of Fallot, Ascites, Leukopenia, Abnormal pulmonary valve m...	ORPHA:974
Frontonasal Dysplasia 1	Cranium bifidum occultum, Median cleft palate, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Polycyst...	ORPHA:79240
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia	OMIM:614526
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Lymphadenopathy, Anemia	ORPHA:39041
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventr...	OMIM:309801
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Kapur-Toriello Syndrome	Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Atri...	OMIM:244300
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina...	ORPHA:398124
Bartsocas-Papas Syndrome 1	Tessier cleft, Cleft palate, Microphthalmia	OMIM:263650
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Chediak-Higashi Syndrome	Hemophagocytosis, Decreased nerve conduction velocity, Leukopenia, Giant neutrophil granules, Spl...	OMIM:214500
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Developmental And Epileptic Encephalopathy 1	Micropenis, Dysphagia, Microphthalmia	OMIM:308350
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Gastroesophageal reflux, Abnormal heart morphology, Cryptorchidism, Ventricular sept...	ORPHA:494344
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:3085
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft palate, Microphthalmia	OMIM:614402
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux	ORPHA:3137
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, Abnormal ...	ORPHA:158061
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	OMIM:601794
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Neutr...	ORPHA:47612
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Cowden Syndrome 1	Varicocele, Colonic diverticula, Goiter, Furrowed tongue, Lymphopenia, Ovarian carcinoma, Ovarian...	OMIM:158350
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Ovarian cyst...	OMIM:246200
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Marden-Walker Syndrome	High, narrow palate, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, Microphthalmia, Mi...	OMIM:248700
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft palate	ORPHA:1473
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, Cr...	OMIM:601186
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent...	ORPHA:324410
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect...	ORPHA:436159
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,...	OMIM:603467
Pseudotrisomy 13 Syndrome	Median cleft palate, Complete atrioventricular canal defect, Cryptorchidism, Ventricular septal d...	OMIM:264480
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia	ORPHA:99931
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans...	OMIM:614921
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cowden Syndrome 5	Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, High palate, Hydrocele testis, Hamart...	OMIM:615108
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Cowden Syndrome 6	Varicocele, Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, High palate, Hydrocele te...	OMIM:615109
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent otitis media, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymp...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites	OMIM:614702
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Braddock-Carey Syndrome 2	Thrombocytopenia, Cleft palate, Microphthalmia	OMIM:619981
Rhabdoid Tumor	Anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ...	OMIM:235255
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries, Abnormal labia majora morphology	ORPHA:435660
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate	ORPHA:85212
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Immunodeficiency 10	Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym...	OMIM:612783
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Cryp...	ORPHA:564
Mccune-Albright Syndrome	Precocious puberty, Bone marrow hypocellularity, Gastroesophageal reflux, Hepatitis, Increased ci...	ORPHA:562
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Bone-marrow foam cells	OMIM:257200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo...	OMIM:619767
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Microphthalmia, Intracranial hemorrhage, Hypertension,...	OMIM:614424
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypog...	OMIM:209900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic...	OMIM:615895
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ...	ORPHA:3240
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:48431
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia, Vaginal atresia	OMIM:248450
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri...	ORPHA:79330
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly...	ORPHA:91138
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:457077
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Acromelic Frontonasal Dysostosis	Encephalocele, Submucous cleft soft palate, Midline facial cleft, Cleft palate, Optic nerve hypop...	OMIM:603671
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Cleft pala...	OMIM:610125
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme...	OMIM:263200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Polycystic ovaries, Gonadal dysgenesis, Cleft palate, Ventricular septal defect	ORPHA:1770
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly...	ORPHA:744
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis	OMIM:620232
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Refsum Disease	Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Mevalonic Aciduria	Low-set ears, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Kyphoscoliosis, Lymphad...	OMIM:610377
Familial Exudative Vitreoretinopathy	Macular edema, Lymphedema, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasi...	ORPHA:891
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment, Kyphoscoliosis, Short neck, Spina bifida...	OMIM:193700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Baraitser-Winter Syndrome 2	Orofacial cleft, Microphthalmia	OMIM:614583
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinophilia, Decreased proportion of CD3-positive...	ORPHA:169160
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,...	ORPHA:379
Agammaglobulinemia, X-Linked	Hearing impairment, Recurrent otitis media, Lymph node hypoplasia, Neutropenia, B lymphocytopenia...	OMIM:300755
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Patent forame...	OMIM:609053
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Mild neur...	ORPHA:443811
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Moebius Syndrome	Bifid uvula, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis...	OMIM:157900
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate	ORPHA:247768
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Ventricul...	OMIM:301068
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis	ORPHA:79456
Acquired Generalized Lipodystrophy	Cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Acute pancreatitis	ORPHA:79086
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Bifid scrotum, Polysplenia, Intestinal malrotatio...	OMIM:229850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp...	OMIM:616897
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration, Dysphagia, Microphtha...	OMIM:612379
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Gastroesophageal reflux, Furrowed tongue, Ventricular septal defect, Atrial...	OMIM:616449
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventri...	ORPHA:369891
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Atrial septal defect, Microphthalmia, Cleft palate	ORPHA:2728
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Left ventricula...	OMIM:619148
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Seckel Syndrome 2	Microglossia, Hypospadias, Microphthalmia	OMIM:606744
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Anal atresia, Microphthalmia	OMIM:617244
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly...	ORPHA:79124
Fanconi Anemia	Aplasia/Hypoplasia of the uvula, Cryptorchidism, Atrial septal defect, Microphthalmia, High palat...	ORPHA:84
Syndromic Diarrhea	Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Villous atrophy, A...	ORPHA:84064
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr...	OMIM:617713
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly, Dysphagia	ORPHA:391428
Desmoplastic Small Round Cell Tumor	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Leukemia, Abnormal heart morphology, Pancytopenia,...	OMIM:227646
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Jejunal atresia, Microphthalmia, Duodenal atresia, Clef...	OMIM:243605
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Microphthalmia	ORPHA:1438
Oculofaciocardiodental Syndrome	Intestinal malrotation, Submucous cleft hard palate, Mitral valve prolapse, Abnormal cardiac sept...	ORPHA:2712
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Microphthalmia, Micropenis	OMIM:243310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, Scoliosis	OMIM:619752
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni...	OMIM:608013
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Neutropenia, T...	ORPHA:540
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Sandhoff Disease	Hepatomegaly, Macroglossia, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Adams-Oliver Syndrome 2	Oligohydramnios, Hydrocephalus, Microphthalmia	OMIM:614219
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, ...	OMIM:600901
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Microphthalmia, Hig...	OMIM:618804
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia, Opt...	OMIM:260920
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Hypergonadotropic hypogonadism, Polycyst...	OMIM:268020
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Adult-Onset Still Disease	Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop...	ORPHA:829
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Hamartoma of tongue, Septate vagina, Absent gallbladder, C...	OMIM:617925
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Anal atresia, Abnormal cardiac septum morphology, Microphthalmia	ORPHA:1352
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi...	ORPHA:3109
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H...	ORPHA:77259
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Stevenson-Carey Syndrome	Gastroesophageal reflux, Atrial septal defect, Microphthalmia	OMIM:611961
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Lethal Congenital Contracture Syndrome 10	Narrow palate, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aort...	OMIM:617022
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
3P25.3 Microdeletion Syndrome	High, narrow palate, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Micropht...	ORPHA:435638
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythm...	OMIM:153400
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Macular hypoplasia, Atrial septal de...	OMIM:147791
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cardiomyopathy, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Microphthalmia With Brain And Digit Anomalies	High palate, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment	ORPHA:529808
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Chronic otitis media	ORPHA:169090
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Anal atresia, Abnormal ...	ORPHA:2166
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, E...	OMIM:608836
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip, Bilateral cleft palate	OMIM:619339
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati...	OMIM:251880
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis, Umbilical hernia	OMIM:618914
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, ...	OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Castleman Disease	Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D...	ORPHA:160
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, Enlarged kidney	OMIM:618188
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Scoliosis, Macrotia, Kyphoscoliosis	ORPHA:391307
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Microphthalmia	OMIM:214150
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Common Variable Immunodeficiency	Lymphopenia, Otitis media, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic ...	ORPHA:1572
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy	ORPHA:99812
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Ambiguous genitalia, Rectal atresia, Microphtha...	OMIM:617666
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Melkersson-Rosenthal Syndrome	Facial palsy, Lymphadenopathy, Abnormal autonomic nervous system physiology	ORPHA:2483
Carney Complex	Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Neopl...	ORPHA:1359
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hypogonadotropic hy...	OMIM:206900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Prem...	ORPHA:371428
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Th...	OMIM:603553
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Microphthalmia	OMIM:619879
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Microphthalmia, High palate, Cle...	OMIM:612530
Mosaic Variegated Aneuploidy Syndrome	Ascites, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Ambiguous genitalia, Subvalvular...	ORPHA:1052
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst	OMIM:613546
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,...	ORPHA:90793
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Microphthalmia, Vaginal atresia, Anal atresia, Septo-optic dysplasia	ORPHA:3301
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Intestinal...	OMIM:249000
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Ventricular septal defect	OMIM:618798
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia	OMIM:614833
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Infantile Systemic Hyalinosis	Steatorrhea, Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thymus, Polycys...	ORPHA:2176
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:267700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Narrow ...	OMIM:250250
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Narrow palate, Hypoplastic ...	OMIM:614222
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asplenia, Ana...	OMIM:273395
3Q29 Microduplication Syndrome	Aniridia, Ventricular septal defect, Ectopic anus, Microphthalmia, High palate, Cleft palate	ORPHA:251038
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Microphthalmia	OMIM:610756
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Subvalvular aortic stenosis, A...	OMIM:613001
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Vacterl With Hydrocephalus	Cryptorchidism, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Abnormal fallopian t...	ORPHA:3412
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Splenomegaly, Thrombocytopenia, Neutropenia, Enlarged tons...	OMIM:308230
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Steinfeld Syndrome	Bifid uvula, Abnormal heart morphology, Absent gallbladder, Median cleft palate, Microphthalmia	OMIM:184705
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor...	OMIM:612541
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Tracheoesophageal fistula, Esophageal...	OMIM:614083
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Chronic noninfectious lymphadenopathy, Lymphopenia, Hypersplenism, D...	ORPHA:3261
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft palate, High pal...	OMIM:618874
Schimke Immunoosseous Dysplasia	Platyspondyly, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Lumbar hyperlordosis, Short...	OMIM:242900
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy...	ORPHA:309854
Fg Syndrome Type 1	Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Optic nerve ...	ORPHA:93932
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia	ORPHA:1553
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:280365
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Cockayne Syndrome Type 1	Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a...	ORPHA:90321
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Acute myeloid leukemia, Atrial septal defect, Microph...	OMIM:610832
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic ca...	ORPHA:228308
Heart And Brain Malformation Syndrome	High, narrow palate, Gastroesophageal reflux, Microphthalmia, Ventricular septal defect	OMIM:616920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Frontorhiny	Cranium bifidum occultum, Encephalocele, Basal encephalocele, Microphthalmia, Cleft palate	ORPHA:391474
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Ventricular septal defect, Anemia, Ret...	OMIM:227645
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo...	ORPHA:781
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep...	OMIM:609136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine...	OMIM:102700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala...	ORPHA:308552
Orofaciodigital Syndrome I	Hepatic fibrosis, Abnormal heart morphology, Ankyloglossia, Hamartoma of tongue, Hepatic cysts, O...	OMIM:311200
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem...	OMIM:614162
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy...	OMIM:241410
Waldenström Macroglobulinemia	Normocytic anemia, Hearing impairment, Leukemia, Splenomegaly, Lymphadenopathy, Multifocal epilep...	ORPHA:33226
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul...	OMIM:300972
Micro Syndrome	Cryptorchidism, High palate, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clito...	ORPHA:2510
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic anemia, Paralytic ileus...	OMIM:620565
Legionnaires Disease	Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy	ORPHA:549
Hypoplasminogenemia	Abnormality of the ovary, Duodenal ulcer, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Lymphocytosis...	ORPHA:50918
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia, Unilateral cryptorchidism, High palate, Cleft palate	OMIM:206920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Ulcerative colitis, H...	ORPHA:79259
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:2556
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Bilateral microphtha...	OMIM:610828
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Abnormal T cell morph...	ORPHA:760
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:93552
Walker-Warburg Syndrome	Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Anophthalmia, Microphthalmia, Hypoplasi...	ORPHA:899
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ...	ORPHA:2334
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Hearing impairment, Lymphopenia, Leukopenia, Reticulocytopenia, B ly...	ORPHA:508542
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Trichohepatoenteric Syndrome 1	Bifid uvula, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Villous atrophy...	OMIM:222470
Martsolf Syndrome 1	Cardiomyopathy, Cryptorchidism, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis, High p...	OMIM:212720
Glycogen Storage Disease Ii	Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly	OMIM:232300
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Hypoparathyroidi...	ORPHA:567
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Decreased nerve conduction velocity...	OMIM:216400
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Male urethral meatus stenosis, Furrowed tongue, Ventricular ...	ORPHA:464738
Fetal Alcohol Syndrome	Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:1915
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Immunodeficiency 23	Conductive hearing impairment, Lymphopenia, Abscess, Sensorineural hearing impairment, Eosinophil...	OMIM:615816
Holoprosencephaly	Gastroesophageal reflux, Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abno...	ORPHA:2162
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Posteriorly rotated ears, Neutropenia, Schistocytosis, Anemia, Thrombocy...	OMIM:301110
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepati...	ORPHA:14
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L...	ORPHA:83471
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Bone marrow hypocellularity, Recurrent otitis media, Lymphopenia, Pancytopenia, He...	OMIM:615688
Trisomy 18	Narrow palate, Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular sept...	ORPHA:3380
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy	OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Microphthalmia	OMIM:615249
Mosaic Trisomy 1	Penile hypospadias, Ventricular septal defect, Hepatic agenesis, Microphthalmia, Micropenis, Clef...	ORPHA:1692
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cleft palate, Microphthalmia	ORPHA:163649
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Microphthalmia	OMIM:614105
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Lymphopenia, Kyphoscoliosis, Eosinophilia, Cervical instab...	OMIM:617425
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the tongue, Cryptorchidism, Mitral valve prolapse, Ven...	ORPHA:193
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality...	ORPHA:909
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Fused cervical vertebrae, Abscess, Neutrophilia	OMIM:612852
Beckwith-Wiedemann Syndrome	Macroglossia, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorch...	OMIM:130650
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Protrud...	OMIM:619488
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:232220
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy...	OMIM:306400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Microphthalmia	OMIM:300863
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova...	ORPHA:90795
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Abnormality of neutrophils, Oral leukoplakia, Abnor...	ORPHA:1775
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala...	ORPHA:2250
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Abnormal heart morphology, Cleft palate, Microphthalmia	OMIM:618571
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Herpes Simplex Virus Encephalitis	Leukocytosis, EEG abnormality, Neutrophilia	ORPHA:1930
Nephroblastoma	Lymphadenopathy	ORPHA:654
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Abnormal lymphatic vessel morphology, Reduced proportio...	ORPHA:90362
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Poems Syndrome	Polycythemia, Sclerotic vertebral endplates, Splenomegaly, Papilledema, Lymphadenopathy, Thromboc...	ORPHA:2905
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly, Sensorineural hearing impairment	ORPHA:36412
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Macroglossia, Cardiomegaly, Cryptorchidism	OMIM:618143
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Decreased nerve conduction velocity...	OMIM:133540
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Oligohydramnios, Cleft palate, Microphthalmia	OMIM:251230
3Q29 Microdeletion Syndrome	Gastroesophageal reflux, Subvalvular aortic stenosis, Microphthalmia, High palate, Hypospadias	ORPHA:65286
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization, Microphthalmia	OMIM:193220
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Ovarian carcinoma, Cardiac fibroma, Ovarian fibroma, Microphthalmia, Hamarto...	OMIM:109400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Hereditary Amyloidosis With Primary Renal Involvement	Anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology	ORPHA:85450
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Cleft palate	OMIM:613150
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly	ORPHA:163746
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E...	ORPHA:171929
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Imperforate hymen, Supernumerary nipple, Tetralogy...	OMIM:100300
Short Syndrome	Rieger anomaly, Ovarian cyst	OMIM:269880
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti...	OMIM:245600
Congenital Tracheomalacia	Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec...	ORPHA:95430
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Digeorge Syndrome	High, narrow palate, Bifid uvula, Cholelithiasis, Gastroesophageal reflux, Parathyroid hypoplasia...	OMIM:188400
Incontinentia Pigmenti	Congestive heart failure, Umbilical hernia, Cerebral ischemia, Orofacial cleft, Telangiectasia of...	ORPHA:464
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Anophthalmia, Microphthalmia	OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Hydrocephalus, Microphthalmia, Holoprosencephaly, Pulmonic...	OMIM:253800
Fucosidosis	Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Macroglossia	OMIM:230000
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Impaired lympho...	ORPHA:35078
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee...	ORPHA:699
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryptorchidism, Patent foramen ovale,...	OMIM:616975
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
1Q21.1 Microdeletion Syndrome	Ankyloglossia, Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, High palate	ORPHA:250989
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Abnormality of the lymphatic system	ORPHA:276280
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Hiatus hernia, Shawl scrotum, Microphthalmia, Micropenis, High palate	OMIM:300895
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Ventricular septal defect, Aganglionic megacolon, Atrial se...	OMIM:607323
Pallister-Hall Syndrome	Precocious puberty, Microglossia, Anteriorly placed anus, Decreased response to growth hormone st...	OMIM:146510
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Ca...	OMIM:261740
Icf Syndrome	Low-set ears, Lymphopenia, Anemia, Abnormality of neutrophils	ORPHA:2268
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Hydrocephalus, Spina bifida, Cleft palate	ORPHA:2839
Charge Syndrome	Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ...	OMIM:214800
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis	OMIM:151660
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Oculopalatocerebral Syndrome	Cleft palate, Microphthalmia	OMIM:257910
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, Neutrophilia, Hepatomegaly, P...	OMIM:249100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Microphthalmia	ORPHA:163966
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitr...	ORPHA:581
Lymphatic Malformation 6	Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect...	OMIM:616843
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Abnormal myocardium mo...	ORPHA:32960
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Cardiomyopathy	ORPHA:158687
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Hydrops fetalis	ORPHA:93271
Atelis Syndrome 2	Gastroesophageal reflux, Thrombocytopenia, Microphthalmia, Anemia, Supravalvar pulmonary stenosis...	OMIM:620185
Familial Mediterranean Fever	Oral leukoplakia, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Leukocytosis, Spl...	ORPHA:342
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy, Back pain	ORPHA:1333
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Microphthalmia, Micropenis, High palate, Cleft palate	OMIM:614230
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Ven...	OMIM:300952
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Focal Dermal Hypoplasia	Gastroesophageal reflux, Hypoplasia of the iris, Acute hepatic failure, Ventricular septal defect...	ORPHA:2092
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Pierson Syndrome	Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ...	OMIM:609049
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	ORPHA:37042
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi...	ORPHA:2035
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Cardiomyopathy	OMIM:105210
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia, High palate	OMIM:110100
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism, High palate	ORPHA:284160
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Intestinal obstruction, Microphthalmia	OMIM:601675
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Absent nipple, Gastroesophageal reflux, Ankyloglossia, Patent foramen ovale, Aplasia...	OMIM:620186
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol...	ORPHA:90291
Exudative Vitreoretinopathy 2, X-Linked	Retinal neovascularization, Microphthalmia	OMIM:305390
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Recurrent otitis media, Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement	OMIM:620233
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Cryptorchidism, Patent foramen ovale, Splenic cyst, Cardiomegaly, ...	OMIM:620371
Cerebrooculofacioskeletal Syndrome 4	Abnormal heart morphology, Bilateral microphthalmos	OMIM:610758
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Bifid tongue, Anal atre...	OMIM:616300
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ...	ORPHA:77261
Neuroblastoma	Anemia, Horner syndrome, Thrombocytopenia, Lymphadenopathy	ORPHA:635
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no...	OMIM:300967
Multiple Myeloma	Anemia, Vertebral compression fracture, Splenomegaly, Lymphadenopathy	ORPHA:29073
Galloway-Mowat Syndrome 3	Oligohydramnios, Hypertension, Edema, Microphthalmia	OMIM:617729
Curry-Jones Syndrome	Intestinal malrotation, Anal stenosis, Intestinal pseudo-obstruction, Microphthalmia	OMIM:601707
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples, Cleft palate, High palate	OMIM:156610
2Q31.1 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Cleft palate	ORPHA:251014
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Hepatic fibrosi...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Hepatic fibrosi...	ORPHA:99228
Monosomy X	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Hepatic fibrosi...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Hepatic fibrosi...	ORPHA:881
Dubowitz Syndrome	Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Hypoplasia of the iris, C...	OMIM:223370
Beckwith-Wiedemann Syndrome	Macroglossia, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopa...	ORPHA:116
Tangier Disease	Hepatosplenomegaly, Facial diplegia, Chronic noninfectious lymphadenopathy, Orange discolored ton...	ORPHA:31150
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Meningoencephalocele, Cleft ...	OMIM:236670
Aicardi Syndrome	Precocious puberty, Gastroesophageal reflux, Intestinal polyposis, Hiatus hernia, Hepatoblastoma,...	ORPHA:50
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Otitis media, Neutropenia	ORPHA:51636
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Microphthalmia	OMIM:616538
Graft Versus Host Disease	Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy	ORPHA:39812
Congenital Syphilis	Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopa...	ORPHA:499009
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism, Microphthalmia, High palate, Cl...	ORPHA:401973
Ogden Syndrome	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Jaundice,...	OMIM:300855
Hennekam Syndrome	Low-set ears, Conductive hearing impairment, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonar...	ORPHA:2136
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Cardiomyopathy, Bilateral microphthalmos, Tetralogy of...	ORPHA:3472
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, Microphthalmia, High palate	OMIM:268400
Phace Association	Microphthalmia, Lingual thyroid, Optic nerve hypoplasia, Ventricular septal defect	OMIM:606519
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Microphthalmia, Syndromic 2	Aortic valve stenosis, Bifid uvula, Septate vagina, Cryptorchidism, Mitral valve prolapse, Ventri...	OMIM:300166
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Down Syndrome	Atlantoaxial dislocation, Conductive hearing impairment, Polycythemia, Acute megakaryocytic leuke...	ORPHA:870
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancreatic insufficiency, Truncus ar...	ORPHA:508498
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Monosomy 9Q22.3	Microphthalmia, Orofacial cleft, Hydrocephalus, Umbilical hernia	ORPHA:77301
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Enlarged kidney	OMIM:252500
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen...	OMIM:603457
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Cockayne Syndrome Type 3	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	ORPHA:90324
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Cleft palate, Microphthalmia	OMIM:260660
Charge Syndrome	Gastroesophageal reflux, Bifid scrotum, Abnormal morphology of female internal genitalia, Tetralo...	ORPHA:138
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Tetralogy of Fallot, Anteri...	ORPHA:857
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Fraser Syndrome	Small scrotum, Anal stenosis, Abnormal vagina morphology, Anorectal anomaly, Female pseudohermaph...	ORPHA:2052
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Microphtha...	OMIM:613884
Renpenning Syndrome 1	Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Phimosis, Ventricular sep...	OMIM:309500
Microphthalmia, Lenz Type	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:568
Brucellosis	Granuloma, Sacroiliac arthritis, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocy...	ORPHA:1304
Papillorenal Syndrome	Hypertension, Edema, Microphthalmia	OMIM:120330
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Incre...	OMIM:263700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Abnormality of the cervical spine, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Joubert Syndrome 2	Hydrocephalus, Encephalocele, Microphthalmia	OMIM:608091
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Farber Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:333
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre...	ORPHA:565612
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Cleft palate	ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Hallermann-Streiff Syndrome	High, narrow palate, Abdominal situs inversus, Cryptorchidism, Microphthalmia, Glossoptosis	ORPHA:2108
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Ventricular septal defect, Microphthalmia, Cleft palate	OMIM:272950
Rodrigues Blindness	Microphthalmia	OMIM:268320
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos	ORPHA:91495
Phace Syndrome	Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum m...	ORPHA:42775
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Spina bifida, Microphthalmia, Hypertension	OMIM:234100
Coccidioidomycosis	Granuloma, Hearing impairment, Abnormality of the vertebral column, Abnormality of the spleen, Ab...	ORPHA:228123
X-Linked Dominant Chondrodysplasia Punctata	High palate, Microphthalmia	ORPHA:35173
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Recurrent otitis media, Decreased proportion of naive T cells,...	OMIM:619381
Fontaine Progeroid Syndrome	High, narrow palate, Small scrotum, Absent nipple, Gastroesophageal reflux, Anteriorly placed anu...	OMIM:612289
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atri...	ORPHA:672
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Otitis media, Chr...	ORPHA:906
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia	OMIM:221900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Microphthalmia	ORPHA:3186
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala...	ORPHA:365
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligohydramnios, Cleft palate, Microphthalmia	ORPHA:364577
Williams Syndrome	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid ao...	ORPHA:904
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, H...	OMIM:308300
Trichothiodystrophy	High, narrow palate, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Gonadal...	ORPHA:33364
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Splenomega...	OMIM:256040
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Vaginal...	OMIM:617088
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Abnormal salivary gland morphol...	OMIM:181000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Spina bifida, Microphth...	OMIM:256520
Holoprosencephaly 9	Alobar holoprosencephaly, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Hydrocephalu...	OMIM:610829
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Bifid scrotum, Cryptorchidism, Atrial septal defect, Mic...	OMIM:609945
Fibrous Dysplasia Of Bone	Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon...	ORPHA:249
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Abnormal heart morphol...	OMIM:235730
Idiopathic Hypereosinophilic Syndrome	Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinop...	ORPHA:3260
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Aplasia of the swe...	OMIM:612132
Acro-Renal-Ocular Syndrome	Tetralogy of Fallot, Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia	ORPHA:959
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Galloway-Mowat Syndrome 1	Hiatus hernia, Hypoplasia of the iris, High palate, Microphthalmia	OMIM:251300
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia, High palate, ...	ORPHA:3103
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Telangiectasia, Corneal neovascularization, Microphthalmia	OMIM:278730
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Uterine neoplasm, Intestinal polyposis, Narrow palate, Hamar...	ORPHA:109
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Cryptorchidism, Abnormal ...	OMIM:154500
Aicardi Syndrome	Precocious puberty, Hiatus hernia, Hepatoblastoma, Microphthalmia, Cleft palate	OMIM:304050
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Optic nerve compression, Otitis media, Splenomegaly, Lymphadenopathy, Anemia,...	ORPHA:667
Myhre Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphth...	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Submucous cleft soft palate, Ventricular septal d...	OMIM:608670
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Frontofacionasal Dysplasia	Cranium bifidum occultum, Orofacial cleft, Microphthalmia	OMIM:229400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus...	OMIM:201750
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Oculodentodigital Dysplasia	High palate, Atrial septal defect, Cleft palate, Microphthalmia	OMIM:164200
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Cockayne Syndrome	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Splenomegaly, C...	ORPHA:191
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, High, narrow palate	ORPHA:91387
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Ventri...	OMIM:268300
Cherubism	Submandibular lymph node enlargement, Optic neuropathy	OMIM:118400
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Recurrent otitis media, Lymphopenia, Decreased proportion of CD8-...	OMIM:301000
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Monosomy 9P	Cryptorchidism, Ambiguous genitalia, Microphthalmia, High palate, Hypospadias, Cleft palate	ORPHA:261112
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Increased T cell count, Eosinophilia, Lymphadenopathy...	ORPHA:797
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Microphthalmia	OMIM:127000
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decr...	OMIM:619573
Oculo-Palato-Cerebral Syndrome	Cleft palate, Microphthalmia	ORPHA:2714
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Duodenal atresia, Optic nerv...	ORPHA:468631
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Chordee, Microphthalmia, Dysphagia,...	ORPHA:261537
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Mowat-Wilson Syndrome	Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Chordee, Microphthalmia, Dysphagia,...	ORPHA:2152
Momo Syndrome	High palate, Bilateral microphthalmos	ORPHA:2563
Focal Dermal Hypoplasia	Anteriorly placed anus, Supernumerary nipple, Intestinal malrotation, Aniridia, Cryptorchidism, A...	OMIM:305600
Microphthalmia With Limb Anomalies	True anophthalmia, Cryptorchidism, Microphthalmia, High palate, Cleft palate	ORPHA:1106
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Gastroesophageal reflux, Azoospermia, Cryptorchidism, Thrombocytopenia, Micr...	ORPHA:534
Acrofrontofacionasal Dysostosis 1	Cleft palate, Microphthalmia	OMIM:201180
Proboscis Lateralis	External genital hypoplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, High palate...	ORPHA:141099
Branchiooculofacial Syndrome	Gastroesophageal reflux, Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmi...	OMIM:113620
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Cryptorchidism, Microphthalmia, Hypospadias, Cleft palate	OMIM:616734
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Lymphangioleiomyomatosis	Optic atrophy, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system	ORPHA:538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:536
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Bilateral micr...	ORPHA:508488
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucous cleft hard ...	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Chordee,...	ORPHA:261552
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy	ORPHA:100078
Alström Syndrome	Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Oligoz...	ORPHA:64
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Eosinophilia, Lymphadenopathy, Abnormality of infra-orbi...	ORPHA:449563
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutroph...	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Leukocytosis, Vertebral comp...	ORPHA:99889
Craniofacial Microsomia 1	Occipital encephalocele, Branchial anomaly, Anophthalmia, Hydrocephalus, Microphthalmia, Cleft pa...	OMIM:164210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perim...	OMIM:612474
Traboulsi Syndrome	Bifid uvula, High palate, Microphthalmia	OMIM:601552
Microphthalmia, Syndromic 1	High, narrow palate, Cryptorchidism, Anophthalmia, Bicuspid aortic valve, Aganglionic megacolon, ...	OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos	ORPHA:93325
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Lymphadenopathy, Thrombocytopenia	ORPHA:79078
Microphthalmia, Syndromic 6	Small scrotum, Bifid uvula, Microglossia, Cryptorchidism, Anophthalmia, Microphthalmia, Female hy...	OMIM:607932
Igg4-Related Kidney Disease	Eosinophilia, Lymphadenitis, Lymphadenopathy	ORPHA:449395
Blau Syndrome	Abnormal cranial nerve morphology, Splenomegaly, Lymphadenopathy, Anemia, Facial palsy	ORPHA:90340
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia	ORPHA:1587
Witteveen-Kolk Syndrome	High, narrow palate, Gastroesophageal reflux, Microphallus, Male urethral meatus stenosis, Decrea...	OMIM:613406
Neuroocular Syndrome 1	Short uvula, Ankyloglossia, Submucous cleft hard palate, Patent foramen ovale, Hypoplasia of the ...	OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Ischemic stroke, Microphthalmia, Corneal neovascularization, Hydrocephalu...	OMIM:175780
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Cardiomegaly, Pancreatic calcification, Hepatic calcification, ...	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hydrocephalus, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Leptospirosis	Papilledema, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Norrie Disease	Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Micropht...	ORPHA:649
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Microphthalmia	OMIM:309000
African Trypanosomiasis	Hepatosplenomegaly, Papilledema, Splenomegaly, Lymphadenopathy	ORPHA:3385
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626

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 Mllt10

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Mllt10.

No publications found that use IMPC mice or data for Mllt10.

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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
Mllt10^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mllt10^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mllt10^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mllt10^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Mllt10^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

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: Mllt10 MGI:1329038

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E9.5

X-ray

X-ray

MicroCT E9.5

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Mllt10 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data