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Gene: Mllt10 MGI:1329038

Gene Summary

Name:

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

Synonyms:

B130021D15Rik, Af10, D630001B22Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

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Gross Morphology Embryo E9.5

Images

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MicroCT E9.5

Embryo reconstruction

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Gross Morphology Embryo E14.5-E15.5

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 (1177 diseases)

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

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

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

Disease	Matching phenotypes	Source
Fryns Microphthalmia Syndrome	Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera...	OMIM:600776
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gall...	ORPHA:2869
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Microphthalmia	OMIM:600251
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi...	ORPHA:1104
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Intesti...	OMIM:615524
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked pote...	OMIM:601382
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Immunodeficiency 104	Recurrent otitis media, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Otitis media	OMIM:608971
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Median cleft palate	ORPHA:2432
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Cleft p...	OMIM:607597
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent otitis media	OMIM:617585
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Holoprosencephaly, Bilateral cleft...	OMIM:601357
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Frontonasal Dysplasia 3	Tessier cleft, Microphthalmia, Cleft palate	OMIM:613456
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, N...	OMIM:619220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Frontofacionasal Dysplasia	Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Microphthalmia/Coloboma 5	Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:611638
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Mast Cell Sarcoma	Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Hypoplasia of the ear cartilage, Sple...	ORPHA:66661
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Opitz Gbbb Syndrome	Hypospadias, Ectopic anus, Patent foramen ovale, High palate, Bifid scrotum, Anal atresia, Trache...	ORPHA:2745
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased B cell count, Hepatosplenomegaly, Increased pr...	OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia, Cleft palate	OMIM:616570
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Volvulus, R...	ORPHA:335
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra...	ORPHA:858
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4...	OMIM:300853
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia, Anal atresia, Atrial septal defect, Ventricular sept...	ORPHA:3469
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ova...	ORPHA:1643
Oculomaxillofacial Dysostosis	Tessier cleft, Cleft palate, Aplasia/Hypoplasia affecting the eye	ORPHA:1794
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaire...	OMIM:245480
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Mmep Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Otitis media, Lymp...	OMIM:602450
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Long penis, Cardiomyopathy, High palate, Furrowed tongue, Precocious pubert...	ORPHA:769
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cent...	ORPHA:277
Leprechaunism	Rectal prolapse, Hepatomegaly, Enlarged kidney, Clitoral hypertrophy, Long penis, Hypertrophic ca...	ORPHA:508
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Thrombocytope...	ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Lo...	OMIM:613101
Cerebrooculonasal Syndrome	Tessier cleft, Anophthalmia	ORPHA:66625
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Unilateral Ocular Duplication	Midline facial cleft, Polyhydramnios, Cleft palate, Encephalocele	ORPHA:3374
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive T cells...	OMIM:619802
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic...	OMIM:619375
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Mosaic Trisomy 9	Tessier cleft, Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Cleft palate, Oligo...	ORPHA:99776
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ...	OMIM:615615
Mu-Heavy Chain Disease	Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B...	OMIM:607594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukop...	OMIM:618986
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Orofacial cleft, Occipital encephalocele, Microphthalmia	ORPHA:324416
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure	ORPHA:75234
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy...	OMIM:615559
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ventricular septal defect, Cryptorchidism	OMIM:613730
Immunodeficiency 7	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Hypereosinoph...	OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Cleft palate	OMIM:239800
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Hypogonadism	ORPHA:2528
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Enlarged polycystic ovaries, Ovarian cyst, Increased circulati...	ORPHA:64739
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hearing impairment, Papilledema, Hepatosplenomegaly, Eosin...	OMIM:607115
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia	OMIM:615401
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Microphthalmia, Hydrops fetalis, Hydrocephalus	ORPHA:268249
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Sensorineural hearing impairment, Leukocytosis, Splenomegaly	OMIM:611762
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia,...	ORPHA:290
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:601859
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Hydrocephalus	ORPHA:1647
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Recurrent otitis media, Hemophagocytosis, Lymphadenopathy, B lymphoc...	OMIM:301078
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Acrofacial Dysostosis, Weyers Type	Tessier cleft	ORPHA:952
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Scoliosis, Facial palsy, Absent brainstem auditory responses, E...	OMIM:617519
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ...	OMIM:121300
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr...	OMIM:175200
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Lymphadenopathy, Sensorineural h...	ORPHA:3226
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Anal atresia, Bicuspid aort...	OMIM:619318
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ...	OMIM:603909
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu...	OMIM:612840
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Elevate...	OMIM:613812
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, E...	OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Abnormal T cell ...	OMIM:308240
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion, Cleft...	OMIM:613885
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia	OMIM:620282
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Decreased CD4...	OMIM:618495
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Acrofacial Dysostosis, Catania Type	Tessier cleft, Spina bifida occulta	ORPHA:1786
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Cholesteryl Ester Storage Disease	Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati...	OMIM:278000
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:86893
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Indolent Systemic Mastocytosis	Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m...	ORPHA:98848
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:545
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Hartsfield Syndrome	Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft...	ORPHA:2117
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Hearing impair...	ORPHA:397596
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly, Hepatic failure	ORPHA:664
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Tricuspid atresia, Microphthalmia, Biliary atresia, Meckel diverti...	OMIM:115470
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries, Hepatic steatosis	OMIM:608709
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Nanophthalmos	Microphthalmia	ORPHA:35612
Charcot-Marie-Tooth Disease, Type 4D	Kyphoscoliosis, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal a...	OMIM:601455
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Abnormal female external genitalia morphology, Hypospadias, Gastroesophageal...	ORPHA:95699
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased p...	OMIM:613011
Griscelli Syndrome Type 2	Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Oculocerebrocutaneous Syndrome	Microphthalmia, Cleft palate, Orbital encephalocele, Anophthalmia	OMIM:164180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Sc...	OMIM:601596
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Necrotizing enterocolitis, Hypertroph...	OMIM:201475
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E...	OMIM:208540
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hemolytic anemia, Back pain	ORPHA:56425
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv...	OMIM:615518
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Leishmaniasis	Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ...	ORPHA:507
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Frontonasal Dysplasia 2	Tessier number 13 facial cleft, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate	OMIM:120433
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Middle Ear Neuroendocrine Tumor	Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Chronic...	ORPHA:100084
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormally large gl...	ORPHA:1655
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, High palate, Hypertrophic cardiomyopathy	OMIM:619053
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Esophageal atresia, Hypoplasia of penis, Anophthalmia, Tracheoesopha...	ORPHA:77298
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Nanophthalmos 4	Microphthalmia	OMIM:615972
Roifman Syndrome	Recurrent otitis media, Biconvex vertebral bodies, Lymphadenopathy, Splenomegaly, Irregular verte...	OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni...	ORPHA:454840
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Distal Deletion 10P	Hypoplasia of penis, Ectopic anus, Anal atresia, Cleft palate, Polycystic ovaries, Cryptorchidism	ORPHA:1580
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus, Cleft palate, Unilatera...	ORPHA:2189
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, ...	ORPHA:2538
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyoma, Duodenal ...	OMIM:617100
Cowden Syndrome	Adenoma sebaceum, Abnormal penis morphology, Colorectal polyposis, High palate, Furrowed tongue, ...	ORPHA:201
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Ankyloglossia, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:1617
Cinca Syndrome	Anemia, Lymphadenopathy, Sensorineural hearing impairment, Leukocytosis, Hearing impairment, Abno...	ORPHA:1451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly	OMIM:609981
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Microphthalmia	ORPHA:1236
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Constricting Bands, Congenital	Tessier cleft, Cleft palate, Encephalocele	OMIM:217100
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, High palate, Decreased testicular size, Cryptorchidism, Micropenis	OMIM:619185
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Treacher-Collins Syndrome	Tessier cleft, Microphthalmia, Encephalocele, Cleft palate, Branchial fistula	ORPHA:861
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T...	OMIM:603554
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl...	OMIM:618892
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Microphthalmia, Gastroesophageal reflux, Patent foramen ovale, Cryptorchidis...	OMIM:618494
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur...	ORPHA:494444
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot, Ventricular sep...	ORPHA:2328
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly	OMIM:253250
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis, Hypoplasia of penis	ORPHA:2547
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hypertrophic cardio...	ORPHA:528
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni...	OMIM:616028
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, He...	ORPHA:98850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:601349
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Scoliosis, Low-set ears, Hepatosplenomegaly, Posteriorly rotated ears, Short nec...	OMIM:619750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Cleft palate, High palate, Hypogonadotropic hypogonadism	ORPHA:1135
Isolated Arrhinia	Tessier cleft, Microphthalmia	ORPHA:1134
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia, Abnormal left ventricular function, Cardiomyopathy	OMIM:613155
17Q12 Microduplication Syndrome	Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia	ORPHA:261272
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Microphthalmia, Cleft palate	ORPHA:306542
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Progressive hearing impairment, Acute monocytic ...	ORPHA:514
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Scoliosis, Abnormal auditory evoked potentials, Biconcave verte...	OMIM:619260
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Abnormal testis morphology, Lymphopenia,...	ORPHA:100
Primary Myelofibrosis	Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis...	ORPHA:824
Roifman Syndrome	Recurrent otitis media, Biconvex vertebral bodies, Lymphadenopathy, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Sensorineural hearing impairment, Thrombocytopenia, Hepatosplenomegaly, Congenital thromb...	OMIM:616738
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Cleft palate, Anencephaly	OMIM:611561
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Leukodystrophy, Hypomyelinating, 5	Scoliosis, Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response ...	OMIM:610532
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentr...	OMIM:620609
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar...	ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infec...	OMIM:613489
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Chronic hepatic failure, Porta...	ORPHA:465508
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Pfapa Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:42642
Meckel Syndrome, Type 2	Intestinal malrotation, Microphthalmia, Cleft palate, Bile duct proliferation	OMIM:603194
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right...	OMIM:306955
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate	OMIM:611134
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia, Decreased pineal volume, Enterocolitis	OMIM:301108
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ...	ORPHA:3386
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Decreased testicular size, Cleft p...	ORPHA:85284
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal gastrointestinal tract morphology, Cryptorchidism, Intestinal malrotatio...	ORPHA:404440
Preeclampsia	Elevated circulating hepatic transaminase concentration, Abnormality of the hepatic vasculature, ...	ORPHA:275555
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto...	ORPHA:100026
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Trisomy 13	High, narrow palate, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Cryptorchidism...	ORPHA:3378
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular ao...	ORPHA:3191
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Ovarian neoplasm, Anemia, Ovarian carcinoma	OMIM:617883
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microphthalmia, Cleft palate, Umbilical hernia, Edema	ORPHA:2505
Fraser Syndrome 1	Tessier cleft, Bilateral microphthalmos, Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningo...	OMIM:219000
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesi...	OMIM:616395
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Recurrent otitis media, Lymphadenopathy, Increased intervertebral space, Scoliosi...	OMIM:607944
Monosomy 18P	Microphthalmia, Hypertension, Lymphedema, Cleft palate, Holoprosencephaly	ORPHA:1598
3Mc Syndrome 3	Tessier cleft, Cleft palate	OMIM:248340
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ...	OMIM:616050
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Holoprosencephaly 1	Tessier cleft, Microphthalmia, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly	OMIM:236100
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervical lymphadenop...	OMIM:614034
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis	OMIM:619644
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of the vertebr...	OMIM:109120
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:435651
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Abnormal cardiac sep...	ORPHA:2059
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele, Median cleft palate	OMIM:136760
Adams-Oliver Syndrome	Cirrhosis, Gastrointestinal hemorrhage, Microphthalmia, Esophageal varix, Ascites, Portal hyperte...	ORPHA:974
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Omenn Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia	ORPHA:39041
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, Ovotestis, Histiocyt...	OMIM:309801
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Intestinal malrotation, Cleft palate, Atrial septal defect, Ventr...	OMIM:244300
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Bartsocas-Papas Syndrome 1	Tessier cleft, Microphthalmia, Cleft palate	OMIM:263650
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Splen...	OMIM:214500
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, Cryptorchidism, Abnormal heart morphology, ...	ORPHA:494344
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism	ORPHA:3085
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Agenesis of pineal gland	OMIM:614402
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux	ORPHA:3137
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:158061
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Felty Syndrome	Chronic otitis media, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypoce...	ORPHA:47612
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Cowden Syndrome 1	High palate, Furrowed tongue, Hamartomatous polyposis, Varicocele, Colonic diverticula, Ovarian c...	OMIM:158350
Donohue Syndrome	Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis...	OMIM:246200
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Marden-Walker Syndrome	High, narrow palate, Microphthalmia, Dextrocardia, Hypospadias, High palate, Pyloric stenosis, Cl...	OMIM:248700
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus a...	OMIM:601186
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv...	ORPHA:324410
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Microphallus, Bone...	OMIM:603467
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Bicornuate uterus, Median cleft palate, Anal atr...	OMIM:264480
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Cowden Syndrome 5	High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula, Ovarian cyst, Goiter,...	OMIM:615108
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Cowden Syndrome 6	High palate, Furrowed tongue, Hamartomatous polyposis, Varicocele, Colonic diverticula, Ovarian c...	OMIM:615109
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Pancytopenia, Decreased pro...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate, Thrombocytopenia	OMIM:619981
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Cryp...	OMIM:235255
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435660
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Abnormal lymphocyte count, ...	OMIM:612783
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Accessory spleen, Anophthalmia, Aplasia/Hypoplasia of the...	ORPHA:564
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Gastroesophageal reflux, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia	OMIM:257200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Hypertension, Cleft palate, Intracrani...	OMIM:614424
Bardet-Biedl Syndrome 1	High, narrow palate, Aganglionic megacolon, High palate, Abnormality of the ovary, Decreased test...	OMIM:209900
Hemochromatosis, Type 3	Neutropenia, Anemia, Lymphopenia	OMIM:604250
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ...	ORPHA:3240
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anophthalmia, Vaginal atresia, Anteriorly placed anus	OMIM:248450
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, High palate, Thrombocytopenia, Hepatosplenomegaly, Lef...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Recurrent otitis media	OMIM:266265
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Tafro Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:457077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Acromelic Frontonasal Dysostosis	Encephalocele, Midline facial cleft, Optic nerve hypoplasia, Cleft palate, Submucous cleft soft p...	OMIM:603671
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Cryptorchidism, Micropenis, E...	OMIM:610125
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte...	OMIM:263200
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries, Cleft palate, Ventricular septal defect	ORPHA:1770
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Enlar...	ORPHA:744
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Generalized lymphadenopathy, Vertebral compression fracture	OMIM:620232
Refsum Disease	Microphthalmia, Cardiomyopathy, Splenomegaly	ORPHA:773
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Mevalonic Aciduria	Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Low-set ears, Leukocytosis, No...	OMIM:610377
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha...	ORPHA:891
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Arthrogryposis, Distal, Type 2A	Kyphoscoliosis, Spina bifida occulta, Scoliosis, Abnormal auditory evoked potentials, Hearing imp...	OMIM:193700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Baraitser-Winter Syndrome 2	Orofacial cleft, Microphthalmia	OMIM:614583
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Otitis media, Lymphopenia, Eosi...	ORPHA:169160
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Pa...	OMIM:609053
Agammaglobulinemia, X-Linked	Recurrent otitis media, Anemia, B lymphocytopenia, T lymphocytopenia, Hearing impairment, Lymph n...	OMIM:300755
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Neutropenia in presence of an...	ORPHA:443811
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Moebius Syndrome	Microphthalmia, High palate, Decreased testicular size, Bifid uvula, Dysphagia, Micropenis, Hypog...	OMIM:157900
Müllerian Aplasia And Hyperandrogenism	Cleft palate, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Polycystic ovaries, Hepatic steatosis	ORPHA:79086
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Cleft palate, Cardiomegaly, Ventricular septal...	OMIM:616897
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Esophageal atresia, Hypospadias, Meckel diverticulum, Bifi...	OMIM:229850
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Dysph...	OMIM:612379
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Furrowed...	OMIM:616449
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, High palate, Ventricular septal defect, Cryptorch...	ORPHA:369891
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cleft palate, Small scrotum, Atrial septal defect, Cryptorchidism	ORPHA:2728
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome...	OMIM:216360
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, High palate, Bifid scrotum, Anal atresia,...	OMIM:619148
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Seckel Syndrome 2	Microphthalmia, Hypospadias, Microglossia	OMIM:606744
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia, Anal atresia	OMIM:617244
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Fanconi Anemia	Microphthalmia, Meckel diverticulum, Tracheoesophageal fistula, Leukopenia, Hypogonadism, Abnorma...	ORPHA:84
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ...	ORPHA:206443
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Atrial septal defect,...	ORPHA:84064
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, High palate, Macroorchidism	ORPHA:284180
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Left ventr...	OMIM:617713
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Hsd10 Disease, Infantile Type	Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility	ORPHA:391428
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, J...	OMIM:243605
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tr...	OMIM:227646
Oculofaciocardiodental Syndrome	Microphthalmia, Intestinal malrotation, Cleft palate, Mitral valve prolapse, Submucous cleft hard...	ORPHA:2712
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis	OMIM:243310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Car...	OMIM:608013
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Elevated circulating hepatic transaminas...	OMIM:269700
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Lymphadenopathy, Sensorineural hearing impairment, Thrombocytopenia, Sp...	ORPHA:540
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Macroglossia	OMIM:268800
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Adams-Oliver Syndrome 2	Hydrocephalus, Microphthalmia, Oligohydramnios	OMIM:614219
Histiocytoid Cardiomyopathy	Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Pulmona...	ORPHA:137675
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, High palate, Microp...	OMIM:618804
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Opt...	OMIM:260920
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnormal...	OMIM:600901
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hypergonadotropic hy...	OMIM:268020
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Adult-Onset Still Disease	Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, G...	ORPHA:829
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Anal atresia, Uterus didelphys, Cleft palate, Tetralogy of Fallot, Absent gallbla...	OMIM:617925
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly	OMIM:619183
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Anteriorly placed anus, Anal atresia, Abnormal cardiac septum morphology	ORPHA:1352
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Azoospermia, Urogen...	ORPHA:1772
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,...	ORPHA:3109
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia, Gastroesophageal reflux	OMIM:611961
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Lethal Congenital Contracture Syndrome 10	Narrow palate, High palate, Hypoplasia of the thymus, Ventricular septal defect, Cardiomegaly, Ov...	OMIM:617022
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233710
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
3P25.3 Microdeletion Syndrome	High, narrow palate, Microphthalmia, Pyloric stenosis, Pulmonic stenosis, Cleft palate, Atrial se...	ORPHA:435638
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Pyloric st...	OMIM:147791
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft palate, Nonim...	OMIM:153400
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, High palate, Anophthalmia	ORPHA:139471
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia	ORPHA:529808
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Anal atresia, Intestinal ma...	ORPHA:2166
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulat...	OMIM:608836
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Microphthalmia, Bilateral cleft lip	OMIM:619339
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnormal...	OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Castleman Disease	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Thrombocytopenia, Decreased mean corpuscula...	ORPHA:160
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233690
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Macrotia, Scoliosis, Lymphopenia	ORPHA:391307
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentra...	OMIM:620005
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Ambiguous genital...	OMIM:617666
Lig4 Syndrome	Acute leukemia, Lymphadenopathy, Leukocytosis, Pancytopenia	ORPHA:99812
Common Variable Immunodeficiency	Chronic otitis media, Lymphadenopathy, Splenomegaly, Otitis media, Lymphopenia, Autoimmune thromb...	ORPHA:1572
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Melkersson-Rosenthal Syndrome	Facial palsy, Lymphadenopathy, Abnormal autonomic nervous system physiology	ORPHA:2483
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Microphthalmia, Syndromic 3	Microphthalmia, Esophageal atresia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior p...	OMIM:206900
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, High palate, Cryptorchidism, Cleft palate, Ventricular septal defect, Supernumera...	OMIM:612530
Meckel Syndrome 14	Microphthalmia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single ventricle	OMIM:619879
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Nodular goiter, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal ...	ORPHA:371428
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenome...	OMIM:603553
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm, Acute lymphoblas...	ORPHA:1052
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Anal atresia, Vaginal atresia, Cryptorchidism	ORPHA:3301
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Anal at...	OMIM:249000
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Steatorrhea, Abnormality of the gastrointestinal tract, Polycys...	ORPHA:2176
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate	OMIM:618798
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Hemophagocytic Lymphohistiocytosis, Familial, 1	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macroc...	OMIM:250250
Warburg Micro Syndrome 3	Narrow palate, Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum...	OMIM:614222
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Ectopic anus, High palate, Cleft palate, Ventricular septal defect	ORPHA:251038
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Anal atresia, Asplen...	OMIM:273395
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Cryptorchidism, Hypoplasia of the iris, Atrial septal defect, Ventricular septal ...	OMIM:613001
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Vacterl With Hydrocephalus	Microphthalmia, Esophageal atresia, Abnormal fallopian tube morphology, Anophthalmia, Anal atresi...	ORPHA:3412
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Cryptorchidism	OMIM:619135
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Immunodeficiency With Hyper-Igm, Type 1	Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti...	OMIM:308230
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Steinfeld Syndrome	Microphthalmia, Median cleft palate, Bifid uvula, Abnormal heart morphology, Absent gallbladder	OMIM:184705
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, High palate, Hypoplasia of the thym...	OMIM:612541
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Splenomegaly, Mitral valve prolapse...	ORPHA:251066
Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia	ORPHA:2717
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Abnormality of the ovary	ORPHA:2795
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Esophageal atresia, Aplasia of the uterus, Tracheoesophageal fistula, Ana...	OMIM:614083
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut...	ORPHA:3261
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Mitra...	OMIM:618874
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thoracic kyphosis, Ovoid vertebral bodies, Thro...	OMIM:242900
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Fg Syndrome Type 1	Hypospadias, Gastroesophageal reflux, Small pituitary gland, Optic nerve hypoplasia, High palate,...	ORPHA:93932
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix...	ORPHA:309854
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal d...	ORPHA:96191
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia	ORPHA:1553
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:280365
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Acute myeloid leukemia, Anal atresia, Atrial septal defect, Vent...	OMIM:610832
Cockayne Syndrome Type 1	Optic atrophy, Anemia, Scoliosis, Absent brainstem auditory responses, Hearing impairment, Macrot...	ORPHA:90321
Heart And Brain Malformation Syndrome	High, narrow palate, Ventricular septal defect, Gastroesophageal reflux, Microphthalmia	OMIM:616920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, ...	ORPHA:228308
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Frontorhiny	Microphthalmia, Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum	ORPHA:391474
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Scoliosis, Optic nerve hyp...	ORPHA:101085
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Cryptorc...	OMIM:227645
Orofaciodigital Syndrome I	High palate, Ankyloglossia, Cleft palate, Lobulated tongue, Abnormal heart morphology, Ovarian cy...	OMIM:311200
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Lymphadenopathy	ORPHA:139402
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena, Elevated circulating hepati...	OMIM:276700
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Waldenström Macroglobulinemia	Normocytic anemia, Lymphadenopathy, Hearing impairment, Splenomegaly, Multifocal epileptiform dis...	ORPHA:33226
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, High palate, Clitoral hypoplasia, ...	ORPHA:2510
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly...	OMIM:620565
Legionnaires Disease	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:549
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Kikuchi-Fujimoto Disease	Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia, Splenomegaly,...	ORPHA:50918
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, High palate, Unilateral cryptorchidism, Cleft palate	OMIM:206920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Tricuspid valve prolapse, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal...	ORPHA:2556
Holoprosencephaly 7	Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ...	OMIM:610828
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft har...	ORPHA:899
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Hearing impairment, Bone marrow hypocellularity, Le...	ORPHA:508542
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast...	ORPHA:167
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas...	ORPHA:2334
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology	ORPHA:1227
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, High palate, Cryptorchidism, Micropenis, Hypogonadotropic hypogon...	OMIM:212720
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Cholestasis, Ventricular septal defect, Hepatic f...	OMIM:222470
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly, Macroglossia	OMIM:232300
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Anorectal anomaly, Intestinal malrotation, Splenomeg...	ORPHA:567
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:216400
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, ...	ORPHA:464738
Fetal Alcohol Syndrome	Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:1915
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Immunodeficiency 23	Sensorineural hearing impairment, Scoliosis, Conductive hearing impairment, Lymphopenia, Eosinoph...	OMIM:615816
Holoprosencephaly	Microphthalmia, Gastroesophageal reflux, Anterior hypopituitarism, Hypoplasia of penis, Anophthal...	ORPHA:2162
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Posteriorly rotated ears, Lymphopenia, Hemo...	OMIM:301110
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Elevated circulating hepatic transaminase concentra...	ORPHA:14
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Recurrent otitis media, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone ...	OMIM:615688
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, ...	ORPHA:83471
Trisomy 18	Narrow palate, Microphthalmia, Esophageal atresia, Anal atresia, Cryptorchidism, Cleft palate, At...	ORPHA:3380
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Microphthalmia, Abnormally large globe	OMIM:615249
Mosaic Trisomy 1	Microphthalmia, Cleft palate, Hepatic agenesis, Penile hypospadias, Ventricular septal defect, Mi...	ORPHA:1692
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cleft palate	ORPHA:163649
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time	OMIM:616881
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate	OMIM:614105
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Platyspondyly, Cervical instability, Lymphopenia, Thoracolumbar kyphosis, Eosinop...	OMIM:617425
Cohen Syndrome	High, narrow palate, Microphthalmia, Cryptorchidism, Mitral valve prolapse, Aplasia/Hypoplasia of...	ORPHA:193
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Fused cervical vertebrae, Neutrophilia, Abscess, Splenomegaly	OMIM:612852
Cerebrotendinous Xanthomatosis	Optic atrophy, Decreased nerve conduction velocity, Thoracic kyphosis, Abnormal auditory evoked p...	ORPHA:909
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Cryptorchidism, Pancreatic hyperplas...	OMIM:130650
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenita...	OMIM:619488
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomegaly, Impaired ...	OMIM:306400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Microphthalmia	OMIM:300863
Temtamy Syndrome	Microphthalmia, Aortic regurgitation	OMIM:218340
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Clef...	ORPHA:2250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Cleft palate, Abnormal heart morphology	OMIM:618571
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Abnormal testis mor...	ORPHA:1775
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the...	ORPHA:90795
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Herpes Simplex Virus Encephalitis	EEG abnormality, Neutrophilia, Leukocytosis	ORPHA:1930
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Abnormal lymph...	ORPHA:90362
Nephroblastoma	Lymphadenopathy	ORPHA:654
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Poems Syndrome	Lymphadenopathy, Polycythemia, Papilledema, Splenomegaly, Thrombocytosis, Sclerotic vertebral end...	ORPHA:2905
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly, Macroglossia	OMIM:618143
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Sensorineural hearing impairment, Splenomegaly	ORPHA:36412
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:133540
Immunodeficiency 9	Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia	OMIM:612782
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis	ORPHA:65286
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Cleft palate, Oligohydramnios	OMIM:251230
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Vitreoretinochoroidopathy	Vitreous hemorrhage, Microphthalmia, Retinal neovascularization	OMIM:193220
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Ovarian fibroma, Cardiac fibro...	OMIM:109400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Hereditary Amyloidosis With Primary Renal Involvement	Lymphadenopathy, Abnormal lymph node morphology, Hepatosplenomegaly, Anemia	ORPHA:85450
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Encephalocele, Hydrocephalus, Cleft palate, Buphthalmos	OMIM:613150
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A...	ORPHA:99027
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Trisomy 10P	Low voltage EEG, EEG with focal spikes, Hemivertebrae, Abnormal auditory evoked potentials, Low-s...	ORPHA:171929
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Cleft palate, Tetral...	OMIM:100300
Short Syndrome	Rieger anomaly, Ovarian cyst	OMIM:269880
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Cleft palate, Mitral valve p...	OMIM:245600
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology...	ORPHA:95430
Incontinentia Pigmenti	Orofacial cleft, Congestive heart failure, Microphthalmia, Spina bifida occulta, Cerebral ischemi...	ORPHA:464
Solitary Median Maxillary Central Incisor	Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:147250
Digeorge Syndrome	High, narrow palate, Anemia, Cholelithiasis, Gastroesophageal reflux, Truncus arteriosus, High pa...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele, Hydrocephalus, Pulmonic stenosis, Holoprosencephaly, Dilated cardi...	OMIM:253800
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Macroglossia	OMIM:230000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Acute otitis media, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia...	ORPHA:35078
Bardet-Biedl Syndrome	Hydrometrocolpos, Aganglionic megacolon, Abnormality of the gastrointestinal tract, Elevated circ...	ORPHA:110
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating hepatic tr...	OMIM:613471
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Gastroesophageal reflux, Patent foramen ovale, Hig...	OMIM:616975
1Q21.1 Microdeletion Syndrome	Microphthalmia, High palate, Ankyloglossia, Cryptorchidism, Abnormal cardiac septum morphology	ORPHA:250989
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Ohdo Syndrome, X-Linked	Microphthalmia, High palate, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis, Hiatus hernia	OMIM:300895
Duane-Radial Ray Syndrome	Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Anal atresia, Atrial...	OMIM:607323
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Panhypopituitarism, Anal a...	OMIM:146510
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Spina bifida, Cleft palate	ORPHA:2839
Icf Syndrome	Low-set ears, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Charge Syndrome	Microphthalmia, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Dysplastic tricuspid val...	OMIM:214800
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Microphthalmia	ORPHA:163966
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritoniti...	OMIM:249100
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsillitis, Abnormal mit...	ORPHA:581
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Ascites, Splenomegaly, Atrial septal defect...	OMIM:616843
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, A...	ORPHA:32960
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Cardiomyopathy	ORPHA:158687
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Hydrops fetalis	ORPHA:93271
Atelis Syndrome 2	Microphthalmia, Anemia, Gastroesophageal reflux, High palate, Supravalvar pulmonary stenosis, Pul...	OMIM:620185
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Familial Pancreatic Carcinoma	Back pain, Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, High palate, Cleft palate, Cryptorchidism, Micropenis	OMIM:614230
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula...	OMIM:300952
Focal Dermal Hypoplasia	Microphthalmia, Gastroesophageal reflux, Duodenal atresia, Hypoplasia of the iris, Acute hepatic ...	ORPHA:2092
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t...	OMIM:609049
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, High palate, Microphthalmia	OMIM:110100
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Okamoto Syndrome	Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux, Abnormally large glob...	ORPHA:2729
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, High palate, Hypoplasia of penis	ORPHA:284160
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microphthalmia, Hypogonadism	OMIM:601675
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Gastroesophageal reflux, Patent foramen ovale, Hypoplastic nipples, Thyroid hypop...	OMIM:620186
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Systemic Sclerosis	Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal...	ORPHA:90291
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Recurrent otitis media, Mediastinal lymphadenopathy, Leukocytosis	OMIM:620233
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Splenic cyst, Patent foramen ovale, High palate, Hepatic sinusoidal ...	OMIM:620371
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Anal atresia, Cryptorchidism, Cleft palate, Lobulated tongue, Ambiguous genitalia...	OMIM:616300
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Horner syndrome	ORPHA:635
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ...	ORPHA:77261
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Cr...	OMIM:300967
Galloway-Mowat Syndrome 3	Edema, Microphthalmia, Hypertension, Oligohydramnios	OMIM:617729
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly, Vertebral compression fracture	ORPHA:29073
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction	OMIM:601707
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Cleft palate, High palate, Hypoplastic nipples	OMIM:156610
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Cleft palate, Atrial septal defect, Ventricular septal defect	ORPHA:251014
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Hypoplasia of...	OMIM:223370
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Bicuspi...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Bicuspi...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Bicuspi...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Bicuspi...	ORPHA:881
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Tangier Disease	Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thromb...	ORPHA:31150
H Syndrome	Lymphadenopathy, Hearing impairment, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc...	OMIM:236670
Aicardi Syndrome	Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Precocious puberty, Cleft palate, ...	ORPHA:50
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Otitis media, Lymphopenia, Neutropenia	ORPHA:51636
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:616538
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Congenital Syphilis	Optic atrophy, Anemia, Lymphadenopathy, Hearing impairment, Thrombocytopenia, Hepatosplenomegaly,...	ORPHA:499009
Mend Syndrome	Microphthalmia, High palate, Aortic valve stenosis, Cleft palate, Abnormal heart morphology, Cryp...	ORPHA:401973
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Narrow ...	OMIM:300855
Hennekam Syndrome	Lymphadenopathy, Abnormal pinna morphology, Low-set ears, Conductive hearing impairment, Lymphang...	ORPHA:2136
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Microphthalmia, Hypospadias, Bilateral microphthalmos,...	ORPHA:3472
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Lingual thyroid	OMIM:606519
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, High palate, Hypogonadism, Cryptorchidism, Anteriorly placed anus	OMIM:268400
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen...	OMIM:127550
Microphthalmia, Syndromic 2	Atrial septal defect, Microphthalmia, Dextrocardia, Hypospadias, Anophthalmia, Cryptorchidism, Pu...	OMIM:300166
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Down Syndrome	Aganglionic megacolon, Leukemia, Abnormality of the lymphatic system, Round ear, Conductive heari...	ORPHA:870
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	ORPHA:508498
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Microphthalmia, Polyhydramnios	OMIM:302960
Monosomy 9Q22.3	Hydrocephalus, Orofacial cleft, Microphthalmia, Umbilical hernia	ORPHA:77301
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Macroglossia	OMIM:252500
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, High palate, Cleft palate, Cryptorchidism, Micropenis, Hypogonadotro...	OMIM:603457
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesop...	ORPHA:90324
Cousin Syndrome	Hydrocephalus, Microphthalmia, Cleft palate, Hydranencephaly	OMIM:260660
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Gastroesophageal reflux, Abnormal soft palate m...	ORPHA:138
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Townes-Brocks Syndrome	Microphthalmia, Hypospadias, Rectovaginal fistula, Abnormal vagina morphology, Hypoplasia of peni...	ORPHA:857
Fraser Syndrome	Microphthalmia, Anal stenosis, Hypospadias, Anorectal anomaly, Abnormal vagina morphology, Hypopl...	ORPHA:2052
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, High palate, Cryptorchidism, Ventricu...	OMIM:613884
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, High palate, Anal atresia, Decreas...	OMIM:309500
Microphthalmia, Lenz Type	Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:568
Papillorenal Syndrome	Edema, Microphthalmia, Hypertension	OMIM:120330
Brucellosis	Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Abnormality of the peripheral nervous syste...	ORPHA:1304
Joubert Syndrome 2	Hydrocephalus, Microphthalmia, Encephalocele	OMIM:608091
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytopenia, Splen...	OMIM:263700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Abnormality of the cervical spine, Hepatosplenomegaly, Anemia	ORPHA:85408
Farber Disease	Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cleft palate, Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Hallermann-Streiff Syndrome	High, narrow palate, Microphthalmia, Glossoptosis, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Teebi-Shaltout Syndrome	High, narrow palate, Microphthalmia, Aortic valve stenosis, Cleft palate, Ventricular septal defect	OMIM:272950
Rodrigues Blindness	Microphthalmia	OMIM:268320
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye	ORPHA:91495
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia	OMIM:234100
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the vertebral column, Granuloma, Hea...	ORPHA:228123
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate	ORPHA:35173
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Immunodeficiency 82 With Systemic Inflammation	Recurrent otitis media, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive...	OMIM:619381
Fontaine Progeroid Syndrome	High, narrow palate, Microphthalmia, Small scrotum, Gastroesophageal reflux, Hypoplastic nipples,...	OMIM:612289
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Bifid uvula, Small scrotum, Hydrometrocolpos, Hypospadias, Ap...	ORPHA:672
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Wiskott-Aldrich Syndrome	Acute leukemia, Chronic otitis media, Anemia, Abnormal eosinophil morphology, Hypoplasia of the t...	ORPHA:906
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Cleft palate, Oligohydramnios	ORPHA:364577
Williams Syndrome	Hypoplasia of penis, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prolapse, Cardiom...	ORPHA:904
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Trichothiodystrophy	Gonadal dysgenesis, High, narrow palate, Bilateral microphthalmos, Anemia, Increased mean corpusc...	ORPHA:33364
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal defect, Hepatomegaly, Splenom...	OMIM:617088
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Holoprosencephaly 9	Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Optic nerve hypo...	OMIM:610829
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, High palate, Total anomalous pulmonary venous return, Bifid scrotum,...	OMIM:609945
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ...	ORPHA:249
Mowat-Wilson Syndrome	Atrial septal defect, Microphthalmia, Aganglionic megacolon, Hypospadias, Bifid scrotum, Cryptorc...	OMIM:235730
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep...	ORPHA:3260
Acro-Renal-Ocular Syndrome	Microphthalmia, Aganglionic megacolon, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Spl...	OMIM:612132
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Galloway-Mowat Syndrome 1	Microphthalmia, High palate, Hiatus hernia, Hypoplasia of the iris	OMIM:251300
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, High palate, Cleft palate, Thrombocytopenia, Cr...	ORPHA:3103
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Telangiectasia	OMIM:278730
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology...	ORPHA:109
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Aicardi Syndrome	Microphthalmia, Precocious puberty, Cleft palate, Hepatoblastoma, Hiatus hernia	OMIM:304050
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cleft soft palate, Cleft palate, Abnormal heart morphology, Abnormal pa...	OMIM:154500
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Optic nerve compression, Hearing impairment, Abnormality of visual evoke...	ORPHA:667
Myhre Syndrome	Microphthalmia, Cryptorchidism, Aortic valve stenosis, Pericardial effusion, Cleft palate, Atrial...	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Exaggerated median tongue furrow, High palate, Cl...	OMIM:608670
Marburg Hemorrhagic Fever	Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticuloc...	ORPHA:99826
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema	ORPHA:2526
Frontofacionasal Dysplasia	Orofacial cleft, Microphthalmia, Cranium bifidum occultum	OMIM:229400
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Oculodentodigital Dysplasia	Atrial septal defect, Cleft palate, High palate, Microphthalmia	OMIM:164200
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesop...	ORPHA:191
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Abnormality of the peripheral nervous sy...	ORPHA:289390
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, High, narrow palate, Cardiomegaly	ORPHA:91387
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Cherubism	Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt...	OMIM:301000
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Monosomy 9P	Microphthalmia, Hypospadias, High palate, Cleft palate, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Sarcoidosis	Anemia, Lymphadenopathy, Abnormal lymph node morphology, Facial palsy, Increased T cell count, Le...	ORPHA:797
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia	OMIM:127000
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ...	OMIM:619573
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate	ORPHA:2714
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism, Duod...	ORPHA:468631
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnormal he...	ORPHA:261537
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Mowat-Wilson Syndrome	Microphthalmia, Bifid scrotum, Aortic valve stenosis, Pulmonic stenosis, Bifid uvula, Abnormal he...	ORPHA:2152
Momo Syndrome	Bilateral microphthalmos, High palate	ORPHA:2563
Focal Dermal Hypoplasia	Microphthalmia, Supernumerary nipple, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, High palate, Cleft palate, Cryptorchidism	ORPHA:1106
Oculocerebrorenal Syndrome Of Lowe	Narrow palate, Microphthalmia, Anemia, Gastroesophageal reflux, Azoospermia, Thrombocytopenia, Bu...	ORPHA:534
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, High palate, V...	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Cleft palate, Small scrotum, Cryptorchidism	OMIM:616734
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, Anophthalmia, Duplication of internal organ...	OMIM:113620
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Lymphangioleiomyomatosis	Optic atrophy, Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Atrioventricular canal defect, Bilateral microphthalmos, Gastroesoph...	ORPHA:508488
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Bilateral cleft palate, Me...	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnormal he...	ORPHA:261552
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia	ORPHA:100078
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Splenomeg...	ORPHA:64
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve, Lympha...	ORPHA:449563
Crimean-Congo Hemorrhagic Fever	Lymphadenopathy, Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytop...	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Vertebral compression fracture, Decreased eosinophil count, Neopl...	ORPHA:99889
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Transverse facial cleft, Anophthalmia, Hydrocephalus, Br...	OMIM:164210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Traboulsi Syndrome	Microphthalmia, Bifid uvula, High palate	OMIM:601552
Microphthalmia, Syndromic 1	High, narrow palate, Rectal prolapse, Aganglionic megacolon, Hypospadias, Microphthalmia, Anophth...	OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Anemia, Congenital hypoparathyroidism	ORPHA:93325
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Lymphadenopathy, Optic nerve compression	ORPHA:79078
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, High palate, Female hypogonadism, Bifid u...	OMIM:607932
Igg4-Related Kidney Disease	Lymphadenitis, Eosinophilia, Lymphadenopathy	ORPHA:449395
Blau Syndrome	Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, Facial palsy, Splenomegaly	ORPHA:90340
Monosomy 13Q14	Microphthalmia, Abnormality of the gastrointestinal tract	ORPHA:1587
Witteveen-Kolk Syndrome	High, narrow palate, Decreased response to growth hormone stimulation test, Microphthalmia, Hypos...	OMIM:613406
Neuroocular Syndrome	Microphthalmia, Short uvula, Patent foramen ovale, Ankyloglossia, Hypoplasia of the fovea, Lens c...	OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Retinal hemorrhage, H...	OMIM:175780
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Pericardial effusion, Pancreatic calcification, Cardiomegaly, H...	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Behçet Disease	Lymphadenopathy, Splenomegaly	ORPHA:117
Leptospirosis	Papilledema, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Cryptorchidism, Uterine r...	ORPHA:649
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
African Trypanosomiasis	Lymphadenopathy, Papilledema, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mllt10

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mllt10.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mllt10 MGI:1329038

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E9.5

MicroCT E9.5

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Mllt10 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data