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Gene: Mllt10 MGI:1329038

Gene Summary

Name:

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

Synonyms:

B130021D15Rik, Af10, D630001B22Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 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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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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X-ray

XRay Images Whole Body Dorso Ventral

27 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 (1149 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	Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect	OMIM:600776
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
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
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ...	ORPHA:543
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Facial Clefting, Oblique, 1	Microphthalmia, Tessier number 4 facial cleft	OMIM:600251
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Scoliosis, Facial palsy, Abnormal auditory evoked pote...	OMIM:601382
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left...	OMIM:615524
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Hepatomegaly	ORPHA:2432
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Anophthalmia Plus Syndrome	Anophthalmia, Facial cleft, Spina bifida	ORPHA:1104
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Facial cleft, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Immunodeficiency 104	Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft	OMIM:613456
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Mast...	ORPHA:66661
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Facial cleft, Anterior encephalocele	OMIM:601357
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Tracheoe...	ORPHA:2745
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Microphthalmia...	ORPHA:335
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Ana...	ORPHA:3469
Xp22.3 Microdeletion Syndrome	Ectopic anus, Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Polycystic ova...	ORPHA:1643
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Facial cleft	ORPHA:1791
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Furrowed tongue, Car...	ORPHA:769
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Supernumerary Nostril	Facial cleft	ORPHA:141096
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypo...	OMIM:613313
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Facial cleft	ORPHA:1794
Mmep Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl...	OMIM:602450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly...	OMIM:613101
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Cerebrooculonasal Syndrome	Anophthalmia, Facial cleft	ORPHA:66625
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Leukopenia,...	ORPHA:2298
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema	OMIM:616570
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Mosaic Trisomy 9	Polyhydramnios, Spina bifida, Hydrops fetalis, Facial cleft, Microphthalmia, Oligohydramnios	ORPHA:99776
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal...	OMIM:617519
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl...	ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Hypogonadism	ORPHA:2528
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Progressive sensori...	OMIM:607115
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy	OMIM:611762
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Polyhydramnios	ORPHA:3374
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate, Ascites	OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, ...	ORPHA:290
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Microphthalmia, Ventricular septal defect, Hepatomegaly	OMIM:613730
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy...	OMIM:602390
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype...	OMIM:601859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Acrofacial Dysostosis, Weyers Type	Facial cleft	ORPHA:952
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Polycystic ovaries, Abnormality of ...	ORPHA:275555
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Vaginal fistula, Anal...	OMIM:619318
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Hypertelorism, Microtia, Facial Clefting Syndrome	Facial cleft	OMIM:239800
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos...	OMIM:612840
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Facial cleft, Hydrops fetalis	ORPHA:268249
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia	OMIM:615387
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype...	OMIM:603909
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency, Common Variable, 1	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class...	OMIM:607594
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Lymphade...	ORPHA:3226
Oculocerebrocutaneous Syndrome	Hydrocephalus, Facial cleft	ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Facial cleft	ORPHA:1786
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce...	OMIM:301078
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci...	ORPHA:276
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Pyloric stenosis	ORPHA:664
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,...	OMIM:616589
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m...	ORPHA:98848
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Cleft palate, Ambiguous genitalia, Microphthalmia, Enlarged k...	OMIM:613885
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht...	OMIM:618652
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries	OMIM:608709
Nanophthalmos	Microphthalmia	ORPHA:35612
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Hepatic failur...	ORPHA:75233
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros...	OMIM:201475
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy	ORPHA:37748
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne...	OMIM:308240
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso...	ORPHA:264580
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ...	OMIM:208540
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:618495
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ...	ORPHA:3392
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Cold Agglutinin Disease	Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Middle Ear Neuroendocrine Tumor	Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ...	ORPHA:100084
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le...	ORPHA:507
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	OMIM:613011
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Hepatomegaly	OMIM:619053
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Tessier number 13 facial cleft, Oligohydramnios	OMIM:613451
Nanophthalmos 4	Microphthalmia	OMIM:615972
Charcot-Marie-Tooth Disease, Type 4D	Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensori...	OMIM:601455
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H...	ORPHA:201
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Cinca Syndrome	Abnormality of neutrophils, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Lymphad...	ORPHA:1451
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Esopha...	ORPHA:77298
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Facial cleft	ORPHA:1236
Gracile Bone Dysplasia	Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites, Ankyloglossia	OMIM:602361
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he...	ORPHA:494444
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Eso...	ORPHA:2538
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardi...	ORPHA:85451
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia	ORPHA:1580
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Ascites	OMIM:253250
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Hypoplastic labia majora,...	ORPHA:2328
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries...	ORPHA:528
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ...	OMIM:618892
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Duodenal stenosis	ORPHA:2547
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia	OMIM:620210
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Roifman Syndrome	Biconvex vertebral bodies, Eosinophilia, Splenomegaly, Lymphadenopathy, Irregular vertebral endpl...	OMIM:616651
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis	OMIM:615122
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertro...	OMIM:616028
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:98850
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Microcytic anemia, Short neck, Lymphadenopathy, Hepatosplenomegaly, Low...	OMIM:619750
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Progressive hearing impairment,...	ORPHA:514
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate	OMIM:120433
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp...	OMIM:619260
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, High, narrow palate, Cleft palate, Abnormal heart morp...	OMIM:618494
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Monocytopen...	OMIM:226990
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Facial cleft, Branchial fistula	ORPHA:861
Ataxia-Telangiectasia	Elevated hepatic transaminase, Abnormal testis morphology, Polycystic ovaries, Lymphopenia, Aplas...	ORPHA:100
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:2348
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, High palate, Microphthalmia, Micropenis, Decreased testicular size	OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Hydrocephalus, Cardiomyopathy	OMIM:613155
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate, Cryptorchidism	OMIM:164180
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:1617
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s...	ORPHA:79083
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Hypogonadotropic hypogonadism, Cleft palate	ORPHA:1135
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation, Intestinal malrotation, Cleft palate	OMIM:603194
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Recurrent ...	OMIM:613489
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:601349
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad...	ORPHA:824
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Constricting Bands, Congenital	Encephalocele, Facial cleft	OMIM:217100
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Facial cleft	ORPHA:306542
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Meckel Syndrome, Type 4	Ventricular septal defect, Cleft palate, Bile duct proliferation, Atrial septal defect, Microphth...	OMIM:611134
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy	OMIM:300887
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad...	ORPHA:100026
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Roifman Syndrome	Eosinophilia, Biconvex vertebral bodies, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular ao...	ORPHA:3191
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect	OMIM:602501
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Trisomy 13	Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Hig...	ORPHA:3378
Fanconi Anemia, Complementation Group S	Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Anemia	OMIM:617883
Hartsfield Syndrome	Encephalocele, Microphthalmia, Lobar holoprosencephaly	ORPHA:2117
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade...	ORPHA:331206
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m...	ORPHA:404440
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ...	OMIM:614034
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c...	OMIM:616050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormality of the vertebral column, Abnormal auditory evoked p...	OMIM:109120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Decr...	ORPHA:85284
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Abnormal dense granules, Decreased nerve conduction ve...	OMIM:214500
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Linear Skin Defects With Multiple Congenital Anomalies 1	Anal atresia, Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Cleft palate, ...	OMIM:309801
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Fraser Syndrome 1	Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Facial cleft	OMIM:219000
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Fryns Syndrome	Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnorma...	ORPHA:2059
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel...	ORPHA:158061
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Neutropenia...	OMIM:616395
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Acromelic Frontonasal Dysostosis	Encephalocele, Midline facial cleft, Optic nerve hypoplasia	OMIM:603671
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labi...	OMIM:244300
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation, Cleft palate	OMIM:611561
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Cleft palate	OMIM:614402
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Gastroesophage...	ORPHA:494344
Donohue Syndrome	Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel...	OMIM:246200
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Bartsocas-Papas Syndrome 1	Microphthalmia, Facial cleft	OMIM:263650
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea...	ORPHA:42
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:158350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:3085
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
3Mc Syndrome 3	Facial cleft	OMIM:248340
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ...	OMIM:264480
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Bilateral microphtha...	OMIM:601186
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Facial cleft, Alobar holoprosencephaly	OMIM:236100
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Z...	OMIM:248700
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate, Thrombocytopenia	OMIM:619981
Hydrolethalus	Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube ...	ORPHA:2189
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ...	ORPHA:52368
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:615108
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:615109
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Felty Syndrome	Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutropenia, Abnorm...	ORPHA:47612
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis	OMIM:257200
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Vaginal atresia	OMIM:248450
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ...	OMIM:228300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c...	OMIM:615895
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen...	OMIM:603467
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno...	ORPHA:3097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop...	ORPHA:91138
Monosomy 18P	Microphthalmia, Hypertension, Holoprosencephaly, Lymphedema	ORPHA:1598
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, True hermaphroditism, Aplasia/Hypoplasia of ...	ORPHA:564
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Bardet-Biedl Syndrome 1	Decreased testicular size, Aganglionic megacolon, High, narrow palate, Biliary tract abnormality,...	OMIM:209900
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Seckel Syndrome 2	Microphthalmia, Microglossia, Hypospadias	OMIM:606744
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Ventricular septal defect, Cleft palate, Polycystic ovaries	ORPHA:1770
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Refsum Disease	Splenomegaly, Microphthalmia, Cardiomyopathy	ORPHA:773
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis	OMIM:620232
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Short neck, Kyphoscoliosis, Scoliosis, Spina bifida occulta,...	OMIM:193700
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio...	ORPHA:891
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Congestive heart failure, Edema	ORPHA:2505
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Posteriorly rotated ears, Kyphoscoliosis, Fluct...	OMIM:610377
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati...	OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate	ORPHA:247768
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microphthalmia, Dysphagia, Microcytic anemia	OMIM:612379
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy	ORPHA:79456
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate, Gastroesophag...	OMIM:616449
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia, Hearing impairment	OMIM:300755
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Aganglionic meg...	OMIM:229850
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hepatic steatosis	ORPHA:79086
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Malabsorption, Polycystic ovaries, Steatorrhea, Aplasi...	ORPHA:2176
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp...	OMIM:216360
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ...	ORPHA:77259
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Ventricular septal de...	ORPHA:84064
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ...	OMIM:616897
Moebius Syndrome	Hypogonadotropic hypogonadism, Bifid uvula, High palate, Dysphagia, Microphthalmia, Micropenis, D...	OMIM:157900
Fanconi Anemia, Complementation Group R	Microphthalmia, Anal atresia, Bone marrow hypocellularity, Anemia	OMIM:617244
Pgm3-Cdg	Hemolytic anemia, Mild neurosensory hearing impairment, Abnormal proportion of CD8-positive T cel...	ORPHA:443811
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Anterior...	OMIM:619148
Stromme Syndrome	Accessory spleen, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, ...	OMIM:243605
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo...	ORPHA:3240
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Oculofaciocardiodental Syndrome	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Abnorma...	ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper...	OMIM:617713
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, Lymphadenopathy, Hemophagocytos...	ORPHA:540
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atrial septal defec...	ORPHA:84
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Hepati...	OMIM:608013
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly	ORPHA:391428
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:268800
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess	OMIM:619752
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Oligohydramnios	ORPHA:228390
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Cleft palate, Atrial septal defect, Microphthalmia	ORPHA:2728
Adams-Oliver Syndrome 2	Microphthalmia, Hydrocephalus, Oligohydramnios	OMIM:614219
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa...	OMIM:260920
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Hamartoma of tongue, Esophageal diverticulum, Complete atriov...	OMIM:617925
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Esophageal atresi...	OMIM:227646
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Microphthalmia	OMIM:614424
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, M...	ORPHA:369891
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Hig...	OMIM:618804
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy, Lymphadenopathy	ORPHA:2483
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Abnormal cardiac septum morphology, Anal atresia	ORPHA:1352
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate, Pulmonic stenosis...	ORPHA:435638
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia, Gastroesophageal reflux	OMIM:611961
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Cleft palate, Adrenal glan...	OMIM:273395
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Micropenis, Microphthalmia, Aortic valve stenosis	OMIM:243310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Ma...	OMIM:147791
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia	ORPHA:370959
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Abnormal heart m...	OMIM:600901
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Mediastinal...	ORPHA:809
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Kyphoscoliosis, Macrotia, Scoliosis	ORPHA:391307
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis	OMIM:618914
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233690
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Micropht...	ORPHA:137675
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Ambiguous genitalia, Microphtha...	OMIM:617666
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Ovarian cyst, Gastroesophageal reflux, Splenic cyst, Enlarged kidney	OMIM:618188
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Ambiguous genitalia, Vaginal neoplasm, Stomach cancer, Cleft palate, Acute ...	ORPHA:1052
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia	OMIM:617914
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal ...	ORPHA:2166
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Microphthalmia, Bifid uvula, Median cleft lip and ...	OMIM:184705
Lig4 Syndrome	Leukocytosis, Acute leukemia, Pancytopenia, Lymphadenopathy	ORPHA:99812
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Intestin...	OMIM:249000
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia...	ORPHA:3261
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia, Single ventricle	OMIM:619879
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol...	ORPHA:371428
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate, Cryptorchidism	ORPHA:139471
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Abnormal heart m...	OMIM:227650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se...	ORPHA:1359
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia, Anal atresia	ORPHA:3301
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He...	OMIM:603553
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intestinal malrotation	ORPHA:3035
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
3Q29 Microduplication Syndrome	Ventricular septal defect, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia	ORPHA:251038
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst, Pancreatitis	OMIM:610475
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Narrow palate, Microphthalmia, Micropenis, Decreased tes...	OMIM:614222
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope...	OMIM:308230
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia	OMIM:267700
Fanconi Anemia, Complementation Group L	Anal atresia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellul...	OMIM:614083
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos...	OMIM:250250
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi...	OMIM:206900
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian t...	ORPHA:3412
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Micro...	OMIM:612530
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnormal T cell morpholog...	OMIM:242900
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:169090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple...	OMIM:619418
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:280365
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect, High, narrow palate, Gastroesophageal reflux	OMIM:616920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ...	ORPHA:228308
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Macroglo...	ORPHA:308552
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, C...	ORPHA:93932
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt...	OMIM:612541
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Anemia, Scoliosis, Macrotia, Abnormality of p...	ORPHA:90321
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft lip and palate, Hi...	OMIM:618874
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A...	OMIM:613001
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Multifocal epileptiform discharges, ...	ORPHA:33226
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Cryptorchidism	OMIM:619135
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Decreased nerve conduction velocity, Splenomegaly, T...	ORPHA:167
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, Abnormal l...	ORPHA:50918
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tongue nodules, O...	OMIM:311200
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Polycystic ovaries, E...	ORPHA:79259
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:232300
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Hypospadias, Increased mean platelet vo...	OMIM:222470
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:227645
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, High palate, ...	ORPHA:2510
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor...	ORPHA:760
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor...	ORPHA:1775
Legionnaires Disease	Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesophageal reflux, ...	ORPHA:567
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Infl...	OMIM:232220
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Cleft palate	ORPHA:1915
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Cleft palate, High palate, Microphthalmia	OMIM:206920
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate	OMIM:614105
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis...	OMIM:241410
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Malabsorption, Orchitis, Splenomegal...	ORPHA:342
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male ...	ORPHA:464738
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Cleft palate, Microphthalmia, Micropenis, Penile hyp...	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Dil...	ORPHA:2556
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat...	ORPHA:14
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Platyspondyly, Cervical instability, Thoracolumbar kyphosis, Lympho...	OMIM:617425
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:163649
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Mic...	ORPHA:899
Trisomy 18	Ventricular septal defect, Cryptorchidism, Esophageal atresia, Cleft palate, Narrow palate, Atria...	ORPHA:3380
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Fused cervical vertebrae	OMIM:612852
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology...	ORPHA:2162
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Sensorineural hearing impairment, Scoliosis, Neutropenia...	OMIM:615816
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Martsolf Syndrome 1	Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomyopathy, High palate, Microphthalmia, Micro...	OMIM:212720
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus	OMIM:300863
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Leu...	OMIM:615688
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Cleft palate, Abnormal heart morphology	OMIM:618571
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Nephroblastoma	Lymphadenopathy	ORPHA:654
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip and palate	OMIM:619339
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:306400
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
3Q29 Microdeletion Syndrome	Hypospadias, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis, Microphthalmia	ORPHA:65286
Herpes Simplex Virus Encephalitis	EEG abnormality, Leukocytosis, Neutrophilia	ORPHA:1930
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Macroglossia	OMIM:230000
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate,...	ORPHA:193
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:216400
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Primary Intestinal Lymphangiectasia	Abnormal lymphatic vessel morphology, Decreased proportion of CD3-positive T cells, Intestinal ly...	ORPHA:90362
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Degcags Syndrome	Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl...	OMIM:619488
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, Cleft palate...	OMIM:109400
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Short Syndrome	Ovarian cyst, Rieger anomaly	OMIM:269880
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85450
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft palate, Hypoplastic...	OMIM:100300
Poems Syndrome	Papilledema, Lymphadenopathy, Thrombocytosis, Sclerotic vertebral endplates, Polycythemia	ORPHA:2905
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy	ORPHA:36412
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Malabsorption, Recurrent tonsillitis, Macr...	ORPHA:581
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Intestinal obstruction, Hypogonadism, Malabsorption	OMIM:601675
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h...	ORPHA:2250
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Pallister-Hall Syndrome	Thyroid dysgenesis, Ventricular septal defect, Decreased response to growth hormone stimulation t...	OMIM:146510
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:618143
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,...	ORPHA:83471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Pulmonic stenosis, Micro...	OMIM:253800
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory evoked poten...	ORPHA:909
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Cleft palate, ...	OMIM:245600
Duane-Radial Ray Syndrome	Anal stenosis, Ventricular septal defect, Optic disc hypoplasia, Aganglionic megacolon, Atrial se...	OMIM:607323
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level, High palate	OMIM:110100
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	OMIM:613471
Digeorge Syndrome	Ventricular septal defect, Parathyroid agenesis, Thrombocytopenia, Splenomegaly, High, narrow pal...	OMIM:188400
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Cryptorchidism, Furrowed tongue, High palate, Gastroesoph...	OMIM:616975
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Precocious puberty, Malabsorption, Cleft palate, Gastroesoph...	ORPHA:50
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Hydrocephalus	ORPHA:163966
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphade...	ORPHA:32960
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Low-set ears	ORPHA:2268
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Facial cleft, Hydrops fetalis	ORPHA:93271
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Anemia, High palate, Gastroesophageal reflux, Pulmonic stenosis, ...	OMIM:620185
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, High palate, Cardiomegaly	ORPHA:2463
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, High palate, Microphthalmia, Ankyloglossia	ORPHA:250989
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cleft palate, Cardiomegaly	ORPHA:158687
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Croh...	OMIM:249100
Ohdo Syndrome, X-Linked	Small scrotum, Hiatus hernia, Cryptorchidism, High palate, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Familial Pancreatic Carcinoma	Back pain, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris...	OMIM:609049
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Focal Dermal Hypoplasia	Acute hepatic failure, Ventricular septal defect, Hypoplasia of the iris, Abnormal cardiac septum...	ORPHA:2092
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphan...	OMIM:616843
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio...	ORPHA:2729
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Multiple Myeloma	Splenomegaly, Vertebral compression fracture, Anemia, Lymphadenopathy	ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hydrocele testis, Bifid uvula, Ankyloglossia, Gastroesophag...	OMIM:620186
Curry-Jones Syndrome	Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation	OMIM:601707
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Cleft palate, High palate, Microphthalmia, Micropenis	OMIM:614230
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Hyperspleni...	ORPHA:1304
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension, Edema, Oligohydramnios	OMIM:617729
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, High palate, Hypoplastic nipples, Cleft palate	OMIM:156610
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype...	ORPHA:464
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, High palate, Cryptorchidism	ORPHA:284160
H Syndrome	Hearing impairment, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis	ORPHA:168569
Graft Versus Host Disease	Hemophagocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa...	OMIM:243800
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Ambiguous genitalia, Microph...	OMIM:616300
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp...	ORPHA:116
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Bicuspid aortic valve, Celiac disease, High, narrow palate, Increa...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, Celiac disease, High, narrow palate, Increa...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, Celiac disease, High, narrow palate, Increa...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Bicuspid aortic valve, Celiac disease, High, narrow palate, Increa...	ORPHA:881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Oligohydramnios	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus	OMIM:613150
Hennekam Syndrome	External ear malformation, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Low-set ear...	ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard ...	OMIM:223370
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryp...	ORPHA:138
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect, Microphthalmia	ORPHA:251014
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Anal stenosis, Cryptorchidism, Bif...	ORPHA:2052
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, High, narrow palate, Bilate...	ORPHA:3472
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone marrow hyp...	OMIM:127550
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Hyp...	ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Buphthalmos, Hypoplastic male external geni...	OMIM:236670
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidis...	OMIM:300166
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Anteriorly placed anus, Hypogonadism, High palate, Microphthalmia, Annular pancreas	OMIM:268400
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ...	ORPHA:857
Mend Syndrome	Abnormal auditory evoked potentials, Sacral dimple, Kyphosis, Low-set ears	ORPHA:401973
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Papillorenal Syndrome	Microphthalmia, Hypertension, Edema	OMIM:120330
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Gastroesophageal reflu...	ORPHA:90324
Farber Disease	Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:333
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Hypoplastic labia major...	OMIM:603457
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:614643
Bohring-Opitz Syndrome	Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas	ORPHA:97297
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Microphthalmia, Aortic valve stenosis	OMIM:272950
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, ...	OMIM:614527
Whim Syndrome	Lymphadenitis, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Rodrigues Blindness	Microphthalmia	OMIM:268320
Cousin Syndrome	Ambiguous genitalia, female, Cleft palate, Ambiguous genitalia, male, Microphthalmia, Microglossia	OMIM:260660
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Joubert Syndrome 2	Encephalocele, Microphthalmia, Hydrocephalus	OMIM:608091
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate	ORPHA:35173
Hallermann-Streiff Syndrome	Spina bifida, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Microphthalmia	OMIM:234100
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High palate, Microphthalmia, Mic...	OMIM:613884
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Leukocytosis, Mediastinal lymphadenopathy, Hilar lymph node enlargement	OMIM:620233
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, G...	ORPHA:228123
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Cleft palate, High pala...	OMIM:309500
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Macroglo...	ORPHA:365
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Fontaine Progeroid Syndrome	Atrial septal defect, Small scrotum, Bicuspid aortic valve, Absent nipple, Protruding tongue, Cry...	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Overriding aorta, Tetralogy of Fallot, Absent gallbladder	ORPHA:3186
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Microphthalmia, Lenz Type	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:568
Pallister-Hall Syndrome	Small scrotum, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal ...	ORPHA:672
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp...	OMIM:619381
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Gastroesophageal reflu...	ORPHA:904
Incontinentia Pigmenti	Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl...	OMIM:308300
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal d...	OMIM:617088
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Hallermann-Streiff Syndrome	High, narrow palate, Cryptorchidism, Glossoptosis, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenome...	ORPHA:51
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma, Cardiac fibroma	ORPHA:77301
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome...	OMIM:256040
Trichothiodystrophy	Ventricular septal defect, Cryptorchidism, High, narrow palate, Bilateral microphthalmos, Increas...	ORPHA:33364
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop...	OMIM:610828
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra...	ORPHA:249
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Aplasia of the swe...	OMIM:612132
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, High palate, Hiatus hernia	OMIM:251300
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ...	ORPHA:3260
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, High palate, Total anomalous pul...	OMIM:609945
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis...	ORPHA:109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Aicardi Syndrome	Hiatus hernia, Precocious puberty, Cleft palate, Hepatoblastoma, Microphthalmia	OMIM:304050
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Roberts Syndrome	Thrombocytopenia, Cryptorchidism, Long penis, Cleft palate, High palate, Microphthalmia, Clitoral...	ORPHA:3103
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Mowat-Wilson Syndrome	Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Aganglionic megacolo...	OMIM:235730
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Lymphadenopathy, ...	ORPHA:99826
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol...	OMIM:154500
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, ...	OMIM:268300
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Cleft palate, Atrial septal defe...	OMIM:139210
Cherubism	Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Neu-Laxova Syndrome 1	Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm...	OMIM:256520
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia, High palate, Cleft palate	OMIM:164200
Primary Sjögren Syndrome	Normocytic anemia, Abnormality of the peripheral nervous system, Lymphadenopathy, Leukopenia, Nor...	ORPHA:289390
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Malabsorption, Thrombocytopenia, Cryptorchidism, Narrow palate, Buphthalmos,...	ORPHA:534
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cryptorchidism, Gastroesophageal reflu...	ORPHA:191
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Monosomy 9P	Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Microphthalmia	ORPHA:261112
Sarcoidosis	Hemolytic anemia, Facial palsy, Eosinophilia, Thrombocytopenia, Increased T cell count, Abnormal ...	ORPHA:797
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia, Anemia	OMIM:127000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Asplenia, Cleft hard palate, Webbed penis, Micropenis, Bifi...	ORPHA:261537
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, ...	ORPHA:2152
Momo Syndrome	Bilateral microphthalmos, High palate	ORPHA:2563
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy, Optic nerve compression, Anemia, Hearing impairment	ORPHA:667
Focal Dermal Hypoplasia	Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Cleft ...	OMIM:305600
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Hig...	ORPHA:141099
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus, Duod...	ORPHA:468631
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Microphthalmia With Limb Anomalies	Cryptorchidism, Cleft palate, High palate, Microphthalmia, True anophthalmia	ORPHA:1106
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric st...	OMIM:113620
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Ventricular septal defect, Optic nerve ...	ORPHA:508488
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Optic atrophy, Lymphadenopathy	ORPHA:538
Igg4-Related Ophthalmic Disease	Eosinophilia, Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology, Lympha...	ORPHA:449563
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Microphthalmia	OMIM:616734
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy	ORPHA:100078
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Asplenia, Cleft hard palate, Webbed penis, Micropenis, Bifi...	ORPHA:261552
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Leukopenia, Thrombocytop...	ORPHA:99827
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Leukocytosis, Abnormal lymph node morphology, Decreased eosinophil count,...	ORPHA:99889
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi...	ORPHA:64
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Cryptorchidism, High, na...	OMIM:309800
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Holoprosencephaly 2	Median cleft lip and palate, Submucous cleft hard palate, Bilateral cleft lip and palate, Microph...	OMIM:157170
Blau Syndrome	Facial palsy, Splenomegaly, Lymphadenopathy, Anemia, Abnormal cranial nerve morphology	ORPHA:90340
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Anemia	ORPHA:93325
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Transverse facial cleft,...	OMIM:164210
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microglossia, Cleft palate, Hig...	OMIM:607932
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia	ORPHA:1587
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Ankyloglossia, ...	OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, ...	OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus	OMIM:253280
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca...	ORPHA:51608
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Igg4-Related Kidney Disease	Lymphadenitis, Eosinophilia, Lymphadenopathy	ORPHA:449395
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Leptospirosis	Papilledema, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Norrie Disease	Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht...	ORPHA:649
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Papilledema, Lymphadenopathy	ORPHA:3385
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	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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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

Gross Morphology Embryo E9.5

X-ray

MicroCT E9.5

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Mllt10 mutations

Histopathology

IMPC related publications

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