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Gene: Rgl1 MGI:107484

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Gene Summary

Name:
ral guanine nucleotide dissociation stimulator,-like 1
Synonyms:
Rgl

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
small liver Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Rgl1em1(IMPC)Mbp HOM E9.5 0.00
decreased prepulse inhibition Rgl1em1(IMPC)Mbp HET   Early adult 5.08×10-07
abnormal spleen morphology Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Rgl1em1(IMPC)Mbp HOM E9.5 0.00
increased heart weight Rgl1em1(IMPC)Mbp HET   Early adult 1.37×10-06
abnormal lymph node morphology Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal midbrain development Rgl1em1(IMPC)Mbp HOM E9.5 0.00
abnormal kidney morphology Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal hindbrain development Rgl1em1(IMPC)Mbp HOM E9.5 0.00
decreased mean corpuscular volume Rgl1em1(IMPC)Mbp HET   Early adult 3.35×10-05
cleft palate Rgl1em1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Rgl1em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Rgl1em1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Rgl1em1(IMPC)Mbp HET Early adult 0.00
polydactyly Rgl1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Rgl1em1(IMPC)Mbp HOM E15.5 0.00
edema Rgl1em1(IMPC)Mbp HOM E15.5 0.00
increased neutrophil cell number Rgl1em1(IMPC)Mbp HET Early adult 3.28×10-06
embryonic growth retardation Rgl1em1(IMPC)Mbp HOM E9.5 0.00
anophthalmia Rgl1em1(IMPC)Mbp HOM E15.5 0.00
enlarged heart Rgl1em1(IMPC)Mbp HET Early adult 0.00
abnormal limb morphology Rgl1em1(IMPC)Mbp HOM E15.5 0.00
increased red blood cell distribution width Rgl1em1(IMPC)Mbp HET Early adult 8.27×10-05
increased startle reflex Rgl1em1(IMPC)Mbp HET Early adult 7.80×10-08
embryonic growth retardation Rgl1em1(IMPC)Mbp HOM E15.5 0.00
syndactyly Rgl1em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Rgl1em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Rgl1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rgl1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Rgl1em1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Rgl1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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Human diseases caused by Rgl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Rgl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu... OMIM:619902
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Microphthalmia/Coloboma 5
Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:611638
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe... OMIM:619452
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Gombo Syndrome
Delayed puberty, Microphthalmia, Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Cleft upper li... OMIM:613885
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Postaxial hand polydactyly, Syndactyly OMIM:615938
Hydrolethalus
Gingival cleft, Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus, Postaxi... ORPHA:2189
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Cleft palate, Intrauterine growth retardation, Edema, Talipes... OMIM:616570
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Cleft palate OMIM:164180
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hartsfield Syndrome
Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence... ORPHA:2117
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly,... OMIM:603194
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Short stature ORPHA:141333
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Syndactyly ORPHA:294975
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Abnormal oral frenulum morphology, Bullet-shaped distal phalanx o... ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Crossed Polysyndactyly
Finger syndactyly, Abnormality of the philtrum, Postaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:2935
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Maternal Hyperthermia-Induced Birth Defects
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Short stature, Aplasi... ORPHA:2216
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Ethanolaminosis
Cardiomegaly OMIM:227150
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mmep Syndrome
Orofacial cleft, Microphthalmia, Triphalangeal thumb, Split foot, Median cleft upper lip ORPHA:3434
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Dystonia ORPHA:139406
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyl... OMIM:611134
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Abnormality of th... ORPHA:3268
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anophthalmia, Hydrocephalus, Narrow mouth, Anal atresia, Increas... ORPHA:261344
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ... ORPHA:380
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Pectoral muscle hypopl... OMIM:136760
Trisomy 13
Bilateral single transverse palmar creases, High, narrow palate, Microphthalmia, Hydrops fetalis,... ORPHA:3378
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele, Oligohydramnios OMIM:615397
Cerebrooculonasal Syndrome
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High... ORPHA:66625
Microphthalmia, Syndromic 12
Intestinal malrotation, Microphthalmia, Cleft palate, Anophthalmia OMIM:615524
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Abnormality of... ORPHA:163966
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Short stature, Metatarsus adductus,... OMIM:613005
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, High palate, Short stature, Camptodactyly of f... ORPHA:376
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Focal segmental glomerul... OMIM:617303
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia, Orofacial cleft ORPHA:324416
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupping, Hypoplasi... OMIM:300863
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft OMIM:600251
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Hydrocephalus, Syndactyly, Smooth philtrum OMIM:602501
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Single tr... OMIM:617927
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Cerebrooculonasal Syndrome
Narrow palate, Postnatal growth retardation, Solitary median maxillary central incisor, Encephalo... OMIM:605627
15Q11Q13 Microduplication Syndrome
Short stature, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Po... OMIM:607361
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, High palate, Postax... ORPHA:139471
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly, ... OMIM:614120
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Esophageal atresia... ORPHA:3412
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Short stature, Cleft palate, Syndactyly, Short tibia, Median cleft uppe... OMIM:300484
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft pa... OMIM:614815
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos... OMIM:252100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Dystonia, Thrombocytopenia, Splenomegaly, Cho... ORPHA:79312
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios, Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe s... ORPHA:261272
Neuralgic Amyotrophy
Narrow mouth, Scapular winging, Short stature, Bifid uvula, Cleft palate, Upper limb amyotrophy, ... ORPHA:2901
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Syndactyly, Absent p... ORPHA:2839
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Aminopterin Syndrome Sine Aminopterin
Oligodontia, High palate, Short stature, Arachnodactyly, Rudimentary postaxial polydactyly of han... OMIM:600325
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Lymphedema, Short stature, Carious teeth, Down... ORPHA:1598
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Split foot, Cleft upper lip, Cleft palate, Widely-spaced maxilla... OMIM:601349
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul... ORPHA:54251
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly OMIM:615984
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Tracheoesophageal fistula, Growt... ORPHA:77298
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Widely spaced teeth, Selective tooth agenesis, Split hand, Microdontia, Ca... OMIM:225280
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Short stature, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of... OMIM:600384
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Narrow mouth, High palate, Short stature, Growth delay ORPHA:2528
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Finger syndactyly... ORPHA:3376
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Micromelia ORPHA:291
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Deep palmar crease, Microphthalmia, Lon... OMIM:602342
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, Y-shaped met... OMIM:175700
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors... ORPHA:363417
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra... OMIM:614034
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Ascites, Ankyloglo... OMIM:602361
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... OMIM:607597
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand poly... ORPHA:85284
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Narrow mouth, Anal atresia, Abnormal morphology of the radius ORPHA:3469
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Immunodeficiency 53
Recurrent urinary tract infections, Neutrophilia, Impaired lymphocyte transformation with phytohe... OMIM:617585
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Aplasia/Hypoplasia of th... ORPHA:564
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Joubert Syndrome 22
Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Intrauterine growth retardation, ... OMIM:615665
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Deep palmar crease, Microphthalmia, Lon... ORPHA:487825
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia, Cutaneous syndactyl... OMIM:119580
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Polydactyly, Postaxial, Type A8
Short stature, Genu valgum, Postaxial polydactyly OMIM:618123
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda... OMIM:614175
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Absent radius, Oligodactyly, Narrow mouth, Forearm undergrow... OMIM:251230
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Oculofaciocardiodental Syndrome
Microphthalmia, Solitary median maxillary central incisor, Intestinal malrotation, Flexion contra... ORPHA:2712
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Aplas... ORPHA:1908
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Short stature, Foot polydactyly, Hand pol... OMIM:258860
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermil... ORPHA:411986
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Bifid uvula, Cleft palate, Metatarsus valgus, Submuc... ORPHA:899
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Ascites, Microdontia, Mesomelia, Syndactyly, Short distal ... OMIM:614091
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Triangular mouth, Delayed epiphyseal ossification, Short stat... ORPHA:166024
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... ORPHA:2476
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c... OMIM:608836
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplasti... OMIM:169550
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi... ORPHA:1777
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Braddock-Carey Syndrome 2
Microphthalmia, Pierre-Robin sequence, Wide mouth, Cleft palate, Clinodactyly OMIM:619981
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Microphthalmia, Intrauterine growth retardation OMIM:609054
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Ascites... OMIM:257200
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Aplasi... ORPHA:3265
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Anal atresia, Growth delay, Absent thumb, Agenes... OMIM:617244
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Micromelia, Short stature, Cl... OMIM:241800
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Dystonia, Th... OMIM:610333
Bardet-Biedl Syndrome 4
Polydactyly, Brachydactyly, Abnormality of the dentition, Syndactyly OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Curry-Jones Syndrome
Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Triphalangeal hallux, Lipomyelomeni... OMIM:601707
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Short stature, Camptodactyly of finger, Intrauterine... ORPHA:1466
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr... OMIM:200995
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Moebius Syndrome
Microphthalmia, Radial deviation of finger, High palate, Abnormality of the dentition, Camptodact... OMIM:157900
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Widely spaced teeth, Short philtrum, Sandal gap, High palate, Short stature, Clef... OMIM:612530
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Intention tremor, P... OMIM:301310
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dystonia ORPHA:77260
Fanconi Anemia, Complementation Group G
Growth delay, Abnormal thumb morphology, Microphthalmia OMIM:614082
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Holoprosencephaly 9
Agenesis of incisor, Microphthalmia, Thick lower lip vermilion, Solitary median maxillary central... OMIM:610829
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb... ORPHA:1825
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Hydrops fet... ORPHA:1263
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septa... OMIM:617021
Monosomy 5P
Finger syndactyly, High palate, Short stature, Intrauterine growth retardation, Small hand ORPHA:281
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft palate, Absent distal phalanges, 2-5 finger cutaneous syndactyly,... OMIM:619339
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Talipes equinovarus, Short stature OMIM:616171
Craniofacial Microsomia 2
Submucous cleft palate, Bifid uvula, Dermal sinus tract OMIM:620444
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Abnormal dental morphology, ... ORPHA:2251
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Renal insufficiency, Hemolyti... ORPHA:108
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal m... ORPHA:2538
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B... ORPHA:505248
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist... ORPHA:168569
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High ... ORPHA:231140
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Short stature... OMIM:617926
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrod... ORPHA:397590
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Short stature, Humeroradial... ORPHA:2019
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Joubert Syndrome 14
Microphthalmia, Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Growth delay, Postaxia... OMIM:614424
Cardiac-Urogenital Syndrome
Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul... OMIM:618280
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
6P22 Microdeletion Syndrome
Hydrocephalus, Abnormal palate morphology, Finger syndactyly, Clinodactyly ORPHA:251046
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Short stature, Hip dysplasia, Intrauterine growth retardation ORPHA:195
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Intestinal malrotation, Split foot,... OMIM:305600
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Overlapping toe, Advanced eruption of teeth, Short philtrum, Encepha... OMIM:619148
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... ORPHA:98850
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Intestinal malrotation, Broad thumb, Foot polydactyly, Abnorma... ORPHA:1553
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Lissencephaly 8
Occipital encephalocele, Microphthalmia, Talipes equinovarus OMIM:617255
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Short ph... ORPHA:93267
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, High palat... ORPHA:93258
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Joubert Syndrome 16
Polydactyly, Encephalocele OMIM:614465
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Neu-Laxova Syndrome 2
Rocker bottom foot, Polyhydramnios, Finger syndactyly, High palate, Spina bifida, Cleft palate, I... OMIM:616038
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, High palate, Short foot, Ankyloglo... ORPHA:250989
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Rhabdoid Tumor
Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Rubinstein-Taybi Syndrome 2
Narrow palate, Short 5th toe, Short first metatarsal, Increased overbite, Prominent fingertip pad... OMIM:613684
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Duodenal stenosis, Symphalangism affecti... ORPHA:2547
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Single ... OMIM:272440
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Proximal placement of thumb, Short philtrum, Tapered finger,... ORPHA:435638
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia, Macroglossia OMIM:613155
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Ring Chromosome 10 Syndrome
Thin vermilion border, Microphthalmia, Aganglionic megacolon, Sandal gap, Tapered finger, Long ph... ORPHA:1438
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Single transverse palmar crease, Short stature, Carious teeth, Short palm, ... OMIM:101805
Rhombencephalosynapsis
Polydactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Finger syndactyly, Narrow ... ORPHA:59315
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviatio... ORPHA:1692
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... OMIM:616651
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe s... OMIM:614701
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node ... ORPHA:85450
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, High pala... ORPHA:2437
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Intestinal atresia, Encephalocele, Ano... ORPHA:2162
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Elevated circulatin... OMIM:602347
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ... ORPHA:381
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Long philtrum, 3-4 finger syndactyly OMIM:615877
Frontorhiny
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Cleft palate, Brachy... ORPHA:391474
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Short mi... OMIM:614219
Adams-Oliver Syndrome
Microphthalmia, Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnorma... ORPHA:974
Schisis Association
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoesophageal fistula, Micromelia, Cl... ORPHA:63862
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, In... OMIM:619879
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Restrictive cardiomyop... ORPHA:160
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Dystonia, Thrombocytopenia, Choreo... ORPHA:289916
Nanophthalmos
Microphthalmia ORPHA:35612
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele, Conical tooth, Abnormality of the dentition, Broad philtrum, Intra... ORPHA:228390
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy... ORPHA:231222
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature OMIM:182230
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Aniridia, Anophthalmia, Camptodactyly of finger, Umbilical hernia, Long phil... ORPHA:1101
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Cleft upper lip, Holoprosencephaly... OMIM:601357
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Abnormal oral frenulum morpho... ORPHA:404440
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty... ORPHA:1786
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Dental crowding, Shortening of all middle phalanges ... OMIM:101600
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... ORPHA:163649
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Cleft palate OMIM:610125
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Short stature, Camptodac... ORPHA:1794
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th... OMIM:169400
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hydrocephalus, Microm... OMIM:612651
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Enamel hypoplasia, Intrauterine growth retardation... ORPHA:90322
Sialidosis Type 2
Hepatomegaly, Tremor, Ascites, Splenomegaly, Nephropathy ORPHA:87876
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Triangular mouth, Lymphedema, Epiphyseal dysplasia, Clinodactyly, Flatt... OMIM:607131
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microdontia, Short stature, Growth delay, Microgl... OMIM:606744
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hydrocephalus, Halberd-shaped pel... ORPHA:2635
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Postaxial hand polydactyly, Ana... OMIM:264480
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Thin vermilion border, High palate, Intrauterine growth retardation... OMIM:613792
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Abnormality of the dentiti... ORPHA:2994
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Narrow mouth, Short stature, Overlapping toe OMIM:600118
Ring Chromosome 21 Syndrome
Narrow palm, Short stature, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping fingers, High, narrow palate, Microphthalmia, Prominent fingertip pads, Increased nuc... OMIM:618494
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera... ORPHA:251004
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Micromelia, Short stature, Cleft palate, Brachydactyly, Intrauteri... ORPHA:2145
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Cubitus valgus, Camptodactyly, Microdontia, Down-sloping sho... OMIM:619694
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, High... ORPHA:93259
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Si... ORPHA:915
Sandestig-Stefanova Syndrome
Rocker bottom foot, Orofacial cleft, Bilateral single transverse palmar creases, Microphthalmia, ... OMIM:618804
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232200
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
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
Bardet-Biedl Syndrome 16
Short stature, Polydactyly OMIM:615993
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Cutis Laxa, Autosomal Recessive, Type Iie
Thick lower lip vermilion, Deep palmar crease, Clinodactyly of the 5th finger, High palate, Short... OMIM:619451
Microphthalmia, Syndromic 2
Microphthalmia, Sandal gap, Bifid uvula, Umbilical hernia, Long philtrum, Phthisis bulbi, 2-3 toe... OMIM:300166
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Hepatome... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Congenital Sialidosis Type 2
Polydactyly, Hydrocephalus, Gingival overgrowth, Ascites, Protruding tongue, Hypoplasia of the fo... ORPHA:93400
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis ORPHA:85414
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, Enlarged kidney, Increased hepatic gl... ORPHA:79259
Hypomelanosis Of Ito
Radial deviation of finger, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly... OMIM:300337
White Forelock With Malformations
Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty... ORPHA:2475
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Short philtrum, Flared ... OMIM:610758
Scrub Typhus
Myocarditis, Lymphadenopathy, Tremor, Splenomegaly, Renal insufficiency ORPHA:83317
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... OMIM:616300
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Short stature, Intrauterine... ORPHA:48431
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Mosaic Trisomy 9
Tessier cleft, Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Hydro... ORPHA:99776
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Smooth philtrum OMIM:614526
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Achondrogenesis, Type Ii
Short tubular bones of the hand, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb sho... OMIM:200610
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Tremor, Leukopenia, Splenomega... OMIM:214500
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen... OMIM:620642
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans... ORPHA:42
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Neonatal short-limb short stature, Narrow greater sciatic notch, Encephalocele, Hydrocephalus, Sh... OMIM:224400
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia, Short stature OMIM:300915
Nanophthalmos 4
Microphthalmia OMIM:615972
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Proximal placement of thumb, Short stature, Thick upper lip vermil... OMIM:617883
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Lymphedema, Narrow mouth, Camptodactyly, Irregular dentition, Growth... OMIM:616006
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Polyhydramnios, Encephalocele, Hydrocephalus, Narrow mouth, Post... ORPHA:2166
Eem Syndrome
Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno... ORPHA:1897
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
2Q31.1 Microdeletion Syndrome
Microphthalmia, Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morpholog... ORPHA:251014
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Microphthalmia, Sandal gap, Short stature OMIM:300887
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Roberts Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... ORPHA:3103
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Microphthalmia, Second metatarsal posteriorly placed, ... OMIM:214150
Cohen Syndrome
Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Arachn... ORPHA:193
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Everted lower lip vermili... OMIM:619736
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Widely spaced teeth, High palate, Camptodactyl... ORPHA:369891
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Free Sialic Acid Storage Disease
Hepatomegaly, Athetosis, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly ORPHA:834
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite... ORPHA:36412
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contra... OMIM:618914
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow... ORPHA:549
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Charge Syndrome
Delayed puberty, Microphthalmia, Tracheoesophageal fistula, Umbilical hernia, Bifid femur, Intrau... ORPHA:138
Houge-Janssens Syndrome 2
Hydrocephalus, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open mouth, Hip d... OMIM:616362
Otopalatodigital Syndrome Type 2
Glossoptosis, Myelomeningocele, Flared iliac wing, Anodontia, Fibular aplasia, Tarsal synostosis,... ORPHA:90652
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Microphthal... OMIM:257850
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept... OMIM:612562
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocep... OMIM:219000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Micromelia, Po... OMIM:616546
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microphthalmia, Oligodontia,... ORPHA:364577
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short st... ORPHA:85166
Craniodigital-Intellectual Disability Syndrome
Short stature, Finger syndactyly, Spina bifida occulta ORPHA:1514
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Dyston... OMIM:300842
Enlarged Parietal Foramina
Occipital encephalocele, Short clavicles, Myelomeningocele, Broad thumb, Cleft palate, Cleft lip ORPHA:60015
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absen... OMIM:607323
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Diaphanospondylodysostosis
Cleft palate, Narrow pelvis bone, Myelomeningocele ORPHA:66637
Aase-Smith Syndrome I
Hydrocephalus, Slender finger, Cleft palate, Open mouth, Talipes equinovarus OMIM:147800
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Marden-Walker Syndrome
Postnatal growth retardation, High, narrow palate, Microphthalmia, Narrow mouth, High palate, Cam... OMIM:248700
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Exaggerated startle response, Increased urinary N-acetylgluco... OMIM:268800
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Splenomegaly, Dystonia OMIM:230650
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega... ORPHA:91138
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned co... OMIM:615761
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul... OMIM:615777
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Single t... OMIM:244300
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Torticollis, Periportal fibrosis, Abnormal l... ORPHA:79328
Orofaciodigital Syndrome I
Radial deviation of finger, Myelomeningocele, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ... OMIM:311200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long p... OMIM:608670
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans... ORPHA:781
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth... OMIM:618727
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Frontofacionasal Dysplasia
Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Short stature, ... ORPHA:1791
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... OMIM:200990
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Hydranencephaly OMIM:601355
Baraitser-Winter Syndrome 2
Orofacial cleft, Microphthalmia, Short stature, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614583
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Palmar pits, Odontogenic keratocysts of the ja... OMIM:109400
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Teebi-Shaltout Syndrome
Rocker bottom foot, High, narrow palate, Caudal appendage, Microphthalmia, Single transverse palm... OMIM:272950
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped epiphysis, Hyp... OMIM:613091
Craniofrontonasal Dysplasia
Orofacial cleft, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, High palate, Abno... ORPHA:1520
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Intraute... OMIM:618142
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Finger synd... ORPHA:1787
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... ORPHA:83313
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Duodenal stenosis, Anophthalmia ORPHA:2470
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele OMIM:611560
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Ca... ORPHA:251038
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Fraser Syndrome
Orofacial cleft, Microphthalmia, Anal stenosis, Encephalocele, Anophthalmia, Finger syndactyly, D... ORPHA:2052
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Reticulocytosis,... ORPHA:79277
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613489
Alg3-Cdg
Neural tube defect, High palate, Abnormal uvula morphology, Metaphyseal chondrodysplasia, Macrogl... ORPHA:79321
Phocomelia, Schinzel Type
Hypoplasia of the radius, High, narrow palate, Disproportionate short stature, Fibular aplasia, A... ORPHA:2879
Mend Syndrome
Microphthalmia, Hydrocephalus, 2-3 toe syndactyly, High palate, Short stature, Asymmetry of the m... ORPHA:401973
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Short stature, Upper limb asymmetry, Cleft palate, Umbilical hernia, Long philtru... ORPHA:2505
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Fatigable weakness of skeletal muscles, Abno... ORPHA:101096
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis ORPHA:3318
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Hydrocephalus, Protruding tongue, Bifid uvula, Cleft palate, Brachydactyly... OMIM:612938
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microphthalmia, Polyhydramnios, Hydrocephalus, Narrow mouth, Aplasia/Hypoplasia ... ORPHA:3301
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Growth delay, Camptodactyly of finger, Intrauterine growth re... OMIM:610756
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Hydrops fetalis, Hydrocephalus, Tracheoesophageal... ORPHA:268249
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Mulibrey Nanism
Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma OMIM:253250
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Temtamy Syndrome
Microphthalmia, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Brachydactyly, Long philtrum... OMIM:218340
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Hydrocephalus, High palate, Pleural effusion, Camptodactyly, Pericardial eff... OMIM:617822
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Clino... ORPHA:313781
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ... OMIM:618950
Focal Dermal Hypoplasia
Microphthalmia, Tooth agenesis, Hypoplastic pelvis, Split foot, Abnormal palmar dermatoglyphics, ... ORPHA:2092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Short philtrum, Tooth malposition, Talipes equinovarus, High palate... OMIM:212720
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Anal atresia, Cleft palate, Syndactyly, Intrauterine growth retardation OMIM:220210
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Microphthalmia, Polyhydramnios, Everted lower lip... OMIM:616920
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop... ORPHA:319487
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,... ORPHA:84081
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra... OMIM:311900
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, High palate, Synostosis of car... ORPHA:710
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Short stature, Cleft upper lip, Broad thumb, Cl... OMIM:600987
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Short philtrum, Joint contracture of the 5th finger, Single transverse palmar cre... OMIM:620098
Trisomy 8Q
Orofacial cleft, Deep palmar crease, Non-midline cleft of the upper lip, High palate, Everted low... ORPHA:1752
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl... OMIM:602782
Weaver Syndrome
Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Broad thumb, Camptodactyly of fing... ORPHA:3447
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra... ORPHA:500095
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Swollen lip, Intrauterine growth ... OMIM:256520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... ORPHA:85167
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response, Mitral valve prolapse ORPHA:309155
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T... OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Schneckenbecken Dysplasia
Metaphyseal irregularity, Polyhydramnios, Disproportionate short-limb short stature, Snail-like i... OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Orofacial cleft, Microphthalmia, Short stature, Cleft upper lip, Du... OMIM:243310
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu... OMIM:607765
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Microphthalmia, Slender long bone, Dental crowding, Short stature, ... OMIM:620601
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Short... ORPHA:1865
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Non... ORPHA:2549
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card... OMIM:261740
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Broad secondary alveolar ridge, Abnormal finger morphology, G... ORPHA:3472
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Thin vermilion border, Microphthalmia, Severe intrauterine growth r... OMIM:241410
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Wide mouth, Syndactyly, Broad philtrum, Long philtrum,... ORPHA:1942
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Joubert Syndrome 37
Short stature, Microphthalmia, High palate, Postaxial polydactyly OMIM:619185
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ... OMIM:267700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Abnormally large globe, Postaxial polydactyly OMIM:603387
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Tooth malposition, Anophthalmia, Failure of eruption of permanent teeth, Bifid uv... ORPHA:2250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Short long bone, Brachydactyly OMIM:615633
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr... OMIM:201475
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Absent radius, Aplasia/Hy... ORPHA:1352
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Opitz-Kaveggia Syndrome
Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br... OMIM:305450
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Short distal phalanx of fi... OMIM:616331
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia OMIM:619046
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th f... OMIM:305400
Myopathy With Extrapyramidal Signs
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Tremor, Leukocytosis, Dyst... OMIM:615673
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Nephropathy ORPHA:575
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcinoma, Enterovi... OMIM:300755
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth ORPHA:544254
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron defici... OMIM:300855
Stromme Syndrome
Preaxial polydactyly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Intestinal malrotati... OMIM:243605
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Joubert Syndrome 33
Splenomegaly OMIM:617767
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Chronic hepatic failure, Porta... ORPHA:465508
Meckel Syndrome, Type 1
Occipital encephalocele, Microphthalmia, Radial deviation of finger, Anencephaly, Intestinal malr... OMIM:249000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizome... OMIM:608940
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Short philtrum, Single transverse palmar crease, High palate, Broad hallux, Tente... OMIM:614105
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... ORPHA:293173
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Finger syndactyly, Foot polydactyly, Hand polydactyly, Wide mouth, Toe syndactyly ORPHA:60040
Tetraploidy
Radial club hand, Short philtrum, Aplasia/Hypoplasia affecting the eye, Cleft palate, Intrauterin... ORPHA:3305
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, High palate, Anal atresia, Intestinal malro... ORPHA:93260
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren... OMIM:255120
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis ORPHA:99812
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Cleft palate, Holoprosencephaly, Abnormal morphology of the radius, Median clef... ORPHA:2165
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact... OMIM:217085
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Short stature, Hand polydactyly, Cleft ... OMIM:258865
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, L... ORPHA:56304
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia ORPHA:1473
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Solitary median maxillary ... OMIM:610828
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Campomelia, Cumming Type
Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Bowing of the long bones, Micromelia,... ORPHA:1318
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy... ORPHA:93552
Fetal Alcohol Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Microdontia, Short stature, Cleft palate, Smo... ORPHA:1915
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Talipe... OMIM:217100
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodac... OMIM:614230
Prolidase Deficiency
Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple... OMIM:170100
Monosomy 13Q14
Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl... ORPHA:1587
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Hypoplasia of the ulna, Abnormal thumb morphology, Aganglionic mega... ORPHA:959
Verloove Vanhorick-Brubakk Syndrome
Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Oligodontia, Short stature, Cleft palate, L... ORPHA:2332
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Finger syndactyly, Short stature, Camptodactyly of finger, Cle... ORPHA:2311
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, Tongue nodules, High palate, Ce... ORPHA:2754
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Opisthotonus, ... OMIM:608013
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria... ORPHA:514
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Widely spaced teeth, Microdontia, Hypoplasia of tee... ORPHA:2728
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Accessory or... OMIM:619142
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Stevenson-Carey Syndrome
Microphthalmia, Narrow mouth, Camptodactyly, Downturned corners of mouth, Pierre-Robin sequence, ... OMIM:611961
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Microdont... ORPHA:3191
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypopl... ORPHA:3186
Nance-Horan Syndrome
Supernumerary tooth, Short metacarpal, Microphthalmia, Abnormality of the dentition ORPHA:627
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Dental malocclusion, Dela... ORPHA:2980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Short philtrum, Abnormally large globe, Hydrocephalus, Delayed ossificatio... OMIM:239300
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, High, narrow palate, Microphthalmia, Short philtrum, Finger syndactyly, Sing... ORPHA:464738
Kury-Isidor Syndrome
Rocker bottom foot, Widely spaced teeth, Proximal placement of thumb, Triangular mouth, Finger sy... OMIM:619762
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Monosomy 9Q22.3
Polydactyly, Orofacial cleft, Microphthalmia, Palmar pits, Delayed eruption of teeth, Hydrocephal... ORPHA:77301
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, High palate, Oligohydramnios OMIM:619053
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Dystonia, Cardiomegaly OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Microphthalmia, Clinodactyly of the 5th finger, Anophthalmi... OMIM:607932
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Orofaciodigital Syndrome V
Aganglionic megacolon, Sandal gap, High palate, Postaxial hand polydactyly, Ankyloglossia, Postax... OMIM:174300
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl... OMIM:619721
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Uln... OMIM:619135
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly OMIM:615996
Microphthalmia, Lenz Type
Orofacial cleft, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, De... ORPHA:568
Cockayne Syndrome Type 1
Postnatal growth retardation, Hypoplasia of the primary teeth, Anophthalmia, Abnormality of the d... ORPHA:90321
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Cleidocranial Dysplasia
Glossoptosis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormality of the d... ORPHA:1452
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, High palate, Eve... OMIM:613884
Mend Syndrome
Polydactyly, Hydrocephalus, 2-3 toe syndactyly, High palate, Short stature, Long fingers, Broad h... OMIM:300960
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth ORPHA:1997
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Dental crowding, Wide mouth, Malrotation ... ORPHA:93932
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Genitopalatocardiac Syndrome
Hydrocephalus, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Downturned corners... ORPHA:2075
Charge Syndrome
Delayed puberty, Microphthalmia, Tracheoesophageal fistula, Absent tibia, Abnormal palmar dermato... OMIM:214800
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Short... OMIM:302350
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Finger syndactyly, Exaggerated cu... ORPHA:284160
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Dental crowding, Finger syndactyly, Single transverse palmar... ORPHA:435938
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature, Downturned corners of mouth, Cleft palate, Long philtrum, Overlapp... OMIM:618571
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Laurence-Moon Syndrome
Short stature, Abnormality of the hand, Polydactyly OMIM:245800
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Dyston... OMIM:257220
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip... OMIM:300963
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Vacterl/Vater Association
Occipital encephalocele, Polyhydramnios, Anencephaly, Finger syndactyly, Non-midline cleft of the... ORPHA:887
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Short stature, Ena... OMIM:618874
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Nail-Patella Syndrome
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... OMIM:161200
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Polydactyly, Short long bone, Brachydactyly OMIM:613819
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary ... OMIM:612541
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Short stature, Hand polydactyly, B... ORPHA:2377
Hydrolethalus Syndrome 1
Microphthalmia, Polyhydramnios, Anencephaly, Talipes equinovarus, Upper limb undergrowth, Postaxi... OMIM:236680
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus, Finger syndactyly, Congenital hip dislocation, Apl... ORPHA:1647
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, Broad alveolar ridges, Prema... OMIM:164200
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Apert Syndrome
Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Hydrocephalus, Posta... OMIM:101200
Galloway-Mowat Syndrome 3
Microphthalmia, Narrow mouth, High palate, Camptodactyly, Short stature, Arachnodactyly, Intraute... OMIM:617729
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo... OMIM:613573
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Hi... OMIM:608739
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Hoxha-Aliu Syndrome
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... OMIM:620662
Bohring-Opitz Syndrome
Narrow palate, Polyhydramnios, Deep palmar crease, Dislocated radial head, Broad alveolar ridges,... OMIM:605039
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact... OMIM:612284
Joubert Syndrome 2
Microphthalmia, Encephalocele, Hydrocephalus, High palate, Postaxial hand polydactyly, Postaxial ... OMIM:608091
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Renal tubular acidosis,... ORPHA:264580
Typhoid
Tremor, Hepatomegaly, Splenomegaly ORPHA:99745
Fanconi Anemia, Complementation Group L
Microphthalmia, Esophageal atresia, Absent radius, Hydrocephalus, Anal atresia, Tracheoesophageal... OMIM:614083
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ... ORPHA:50918
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Epiphyseal stippling, S... OMIM:302960
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Ascites, Intestinal malrotation, Intrauterine growth retardation, E... OMIM:269860
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Macroglossia ORPHA:370959
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate OMIM:613456
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Microphthalmia, Short stature, Cleft palate, Intrauterine growth retardation... ORPHA:2714
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Iniencephaly
Rocker bottom foot, Orofacial cleft, Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydr... ORPHA:63259
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho... ORPHA:3258
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Dental crowding, To... OMIM:268310
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Filippi Syndrome
Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th toe, C... ORPHA:3255
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Narrow mouth, Synostosis of carpa... ORPHA:1323
Fanconi Anemia
Microphthalmia, Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tr... ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Encephalocele, Hydrocephalus, Cleft upper lip, Cleft palate, Buphthalmos, Macrogl... OMIM:613150
Mogs-Cdg
Hepatomegaly, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardi... ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 27
Polydactyly, Thick lower lip vermilion OMIM:617120
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Broad... OMIM:212780
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Short philtrum, Rudimentary fi... ORPHA:958
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Widely spaced teeth, Syndactyly OMIM:619092
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Postaxial polydactyly OMIM:219730
Acrofrontofacionasal Dysostosis 2
High palate, Short stature, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly OMIM:239710
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth OMIM:617681
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Polyhydramnios, Intestinal polyposis, Clinodactyly of the 5th finger, Stomach can... ORPHA:1052
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Clinodactyly of the 5th finger, Polyhydramnios, Non-midlin... ORPHA:2059
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia... OMIM:274000
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Oligodontia, Short metacarpal, Short stature, Cleft upper l... OMIM:201180
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Polyhydramnios, Femoral bowing, Short long bone, Acetabular spurs, Short st... OMIM:615503
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi... ORPHA:63260
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Pentalogy Of Cantrell
Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Non-midlin... ORPHA:1335
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ... ORPHA:158687
Holzgreve Syndrome
Abnormal metacarpal morphology, Hand polydactyly, Cleft palate, Abnormal morphology of ulna, Intr... ORPHA:2167
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ... OMIM:614921
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Increased mean corpuscular volume, Megaloblastic anemia, Dystonia, Methylmalonic ... OMIM:277410
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Short stature, Absent thumb, 2-3 finger... OMIM:603467
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Thick lower lip vermilion, Lymphedema, Long philtrum, Deep philtrum, Thin upper l... OMIM:152950
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating hepatic transaminase conce... ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ... OMIM:617713
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Frontonasal Dysplasia 2
Microphthalmia, Widely spaced teeth, Encephalocele, Conical tooth, Tessier number 13 facial cleft... OMIM:613451
Rubinstein-Taybi Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality of th... ORPHA:783
Ohdo Syndrome, X-Linked
Thin vermilion border, Microphthalmia, Widely spaced teeth, High palate, Narrow mouth, Microdonti... OMIM:300895
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Th... ORPHA:2526
3C Syndrome
Postnatal growth retardation, Orofacial cleft, High, narrow palate, Abnormal hip bone morphology,... ORPHA:7
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia OMIM:248450
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Short philtrum, Single transverse palmar crease, 2-3 toe syndactyly, High palate,... OMIM:616449
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Downturned corners of mou... OMIM:180860
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... OMIM:615688
Tangier Disease
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Schizophrenia 1
Short stature, Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres... ORPHA:989
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leukocytosis, Increased T ce... OMIM:620376
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft... ORPHA:306542
Cri-Du-Chat Syndrome
Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ... OMIM:123450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Silver-Russell Syndrome 3
Postnatal growth retardation, Clinodactyly of the 5th finger, Short stature, Syndactyly, Oligohyd... OMIM:616489
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly OMIM:226700
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Hydrocephalus, High palate, Congenital hip dislocation, Syndactyly, Umbilical hernia OMIM:104350
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab... ORPHA:1333
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
Spondylo-Ocular Syndrome
Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproporti... ORPHA:85194
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Abnormality of th... OMIM:234100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Downturned corners of mouth, Microphthalmia, Smooth philtrum OMIM:618652
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ... OMIM:306400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Polyhydramnios, Finger syndactyly, Aplasia of the proximal phalanges of t... ORPHA:2256
Long-Olsen-Distelmaier Syndrome
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva... OMIM:620609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microphthalmia, Abnormally large globe OMIM:615249
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, My... ORPHA:1393
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Choreoathetosis, Abnormal concentration of a... ORPHA:391428
Proboscis Lateralis
Orofacial cleft, Microphthalmia, Agenesis of canine, Anophthalmia, Optic nerve hypoplasia, High p... ORPHA:141099
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Short stature, Absent thumb, Sh... OMIM:609053
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer... OMIM:108720
Momo Syndrome
Bilateral microphthalmos, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing, H... ORPHA:2563
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le... ORPHA:57777
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Long philtrum ORPHA:1252
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno... ORPHA:2905
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Polyhydramnios, Talipes equinovarus, Finger syndactyly, Broad alveola... ORPHA:2215
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate... ORPHA:158048
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Incontinentia Pigmenti
Orofacial cleft, Microphthalmia, Spina bifida occulta, Delayed eruption of teeth, Finger syndacty... ORPHA:464
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd... OMIM:609638
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Short stature, Severe short stature, Intrauterine growth ... OMIM:601186
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
3Q29 Microdeletion Syndrome
Orofacial cleft, Microphthalmia, Clinodactyly of the 5th finger, Short philtrum, Dental crowding,... ORPHA:65286
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Microphthalmia, Syndromic 1
Microphthalmia, Radial deviation of finger, Dental crowding, Prominent fingertip pads, Abnormal p... OMIM:309800
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Pseudoaminopterin Syndrome
Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s... ORPHA:221120
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... ORPHA:167
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath... OMIM:230500
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Proximal placement ... OMIM:113620
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens... ORPHA:309854
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Finger syndactyly, Arachnodactyly, Short palm, Long philtrum, Toe ... ORPHA:73246
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Polydactyly, Abnormal tongue morphology, Downturned corners of mout... ORPHA:531151
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Anal atresia, Split foot, Cleft up... ORPHA:2008
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Retinitis Pigmentosa 89
Postaxial polydactyly, Esophageal varix OMIM:618955
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth, Short stature, Mild short stature OMIM:614833
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th finger... ORPHA:1001
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly OMIM:617388
Oliver Syndrome
Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip pads, High palate, Elbow flex... ORPHA:2920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Microphthalmia, Clinodactyly of the 5th finger, Optic nerve hypoplasia, ... ORPHA:508498
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept... OMIM:312870
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Narrow mouth, High palate, Long fingers, Cleft palate, Long philtrum OMIM:156610
Myhre Syndrome
Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Intrauterine... OMIM:139210
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the ureter ORPHA:1133
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Joint contracture of the hand, Polyhydramnios, Deep palmar crease, Clinodactyly of t... OMIM:247200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Fin... OMIM:308050
Bartsocas-Papas Syndrome
Finger syndactyly, Narrow mouth, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft pa... ORPHA:1234
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Disproportionate short-... ORPHA:1507
Joubert Syndrome 23
Polydactyly OMIM:616490
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Carious teeth... ORPHA:2710
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Dystonia, Neutropenia OMIM:617050
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... ORPHA:31150
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mouth, Long philtrum, Intrauterine g... ORPHA:818
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Dystonia, Splenomegaly, Cardiomegaly, Olig... OMIM:230000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252930
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Growth delay, Lobar holopros... OMIM:615465
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,... OMIM:614800
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Eclabion, Carious teeth, Pyloric stenosis, Natal tooth, Shor... OMIM:616395
Jacobsen Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Pyloric stenosis, Holoprosencephal... OMIM:147791
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Umbilical hernia, Long ph... OMIM:265000
Galloway-Mowat Syndrome 1
Microphthalmia, Talipes equinovarus, High palate, Camptodactyly, Slender finger, Short stature, H... OMIM:251300
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Conical tooth, Narrow mouth, Microdontia,... OMIM:129400
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypop... OMIM:206900
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Trisomy 20P
Abnormal palate morphology, Thin vermilion border, Abnormal hip bone morphology, Short philtrum, ... ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Adducted thumb OMIM:614643
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Polyhydramnios, Syndactyly, Preaxial hand polydactyly OMIM:263630
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Microphtha... ORPHA:1236
Brucellosis
Lung abscess, Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic ... ORPHA:1304
Crane-Heise Syndrome
Finger syndactyly, Short distal phalanx of finger, Cleft palate, Intrauterine growth retardation,... ORPHA:1512
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic st... ORPHA:2348
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Lymphedema, Finger aplasia, Hand polydactyly, Syndactyly OMIM:149000
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,... ORPHA:100078
Warburg Micro Syndrome 3
Narrow palate, Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Down... OMIM:614222
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly OMIM:232300
Congenital Fibrinogen Deficiency
Volvulus, Microphthalmia, Gingival bleeding, Clubbing of fingers ORPHA:335
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp... ORPHA:246
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia OMIM:619318
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Elevated circulating hepatic transaminas... ORPHA:79240
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Mi... OMIM:263750
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Severe postnatal growth retardation, High palate, Short sta... ORPHA:35173
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept... OMIM:616897
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Hyperextensibility of the fi... OMIM:151050
Holt-Oram Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o... ORPHA:392
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Encephalocele, Talipes equinovarus, Midline facial cleft, Optic nerve hypopl... OMIM:603671
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Hydrocephalus, Aplasia/Hypoplasia o... ORPHA:87
Periventricular Nodular Heterotopia 1
Short finger, Clinodactyly, Syndactyly OMIM:300049
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Thin vermilion border, High, narrow palate, Clinodactyly of the 5th... ORPHA:96182
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria OMIM:239200
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
19P13.12 Microdeletion Syndrome
Thin vermilion border, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Hypodontia... ORPHA:254346
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Solitary median maxillary central incisor, Clinodactyly of the 5th finger,... ORPHA:217346
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph... OMIM:235255
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger OMIM:167730
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnormal dental enam... ORPHA:1005
Acrofacial Dysostosis 1, Nager Type
Radial deviation of finger, Wide mouth, Absent thumb, Absent radius, Overlapping toe, Clinodactyl... OMIM:154400
Farber Disease
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch... ORPHA:333
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Lymphopenia OMIM:605309
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, He... ORPHA:1655
Wilson Disease
Portal fibrosis, Ascites, Limb dystonia, Acute hepatic failure, Splenomegaly, Hepatic steatosis, ... OMIM:277900
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Abnormal dental enamel morphology, Abnormal rectum m... ORPHA:2556
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Delayed eruption of... OMIM:223370
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Short philtrum, Exaggerated cupid's bow, Intestinal malrotation, Long finger... OMIM:618316
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal... ORPHA:342
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Congenital Syphilis
Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi... ORPHA:499009
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, ... ORPHA:672
Orofaciodigital Syndrome Type 4
Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Intrauterine growth retarda... ORPHA:2753
Tarp Syndrome
Rocker bottom foot, Talipes equinovarus, Finger syndactyly, Single transverse palmar crease, Glos... ORPHA:2886
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,... OMIM:263650
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, Hepatomegaly, B lymphocy... OMIM:102700
Treacher-Collins Syndrome
Tessier cleft, Microphthalmia, Encephalocele, Rectovaginal fistula, Abnormal dental enamel morpho... ORPHA:861
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Leukocytosis, Thrombocytopenia, Splenom... ORPHA:90051
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100080
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Microphthalmia, Meckel diverticulum, Anal atresia, Intestinal malr... OMIM:115470
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Slender long bone, Narrow philt... OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Microdontia, Cleft upper lip, Cutaneous finger syndactyly, Anodontia... OMIM:225060
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Oligohydramnios, Postaxial polydactyly OMIM:615824
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Oculopalatocerebral Syndrome
Short stature, Microphthalmia, Cleft palate OMIM:257910
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis ORPHA:79083
Fanconi Anemia, Complementation Group D2
Microphthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Aplasia of the 1st ... OMIM:227646
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:259700
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Dental malocclusion, Gingival overgrowth, Camptodactyly, Short stature, Broad t... OMIM:616894
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto... ORPHA:39812
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, High, narrow palate, Abnormal metacarpal morphology, Hydrocephalu... ORPHA:2658
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Nonimmune hydrops fetalis, Long philtrum, Intraute... OMIM:208150
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Atrial septal defect, Hepatic steatosis, Jaundice, Hepatomegaly, Atr... OMIM:619573
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Hamamy Syndrome
Clinodactyly of the 5th finger, Long toe, Hypodontia, Short 2nd finger, High palate, Everted lowe... OMIM:611174
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Lip pit, T... ORPHA:2750
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger OMIM:619562
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplastic iliac wing, ... OMIM:180849
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Short stature, Cleft upper lip, Growth delay, Cleft palate, ... OMIM:248340
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Au-Kline Syndrome
Deep palmar crease, Clinodactyly of the 5th finger, Oligodontia, High palate, Lipomyelomeningocel... OMIM:616580
Whipple Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Pericarditis, Splenomegaly ORPHA:3452
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Hip dysplasia ORPHA:494344
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Long philtrum... OMIM:134780
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology... OMIM:615873
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia, Clinodactyly of the 5th finger OMIM:617306
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myocardial eosin... ORPHA:3260
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch... ORPHA:100075
Rodrigues Blindness
Short stature, Microphthalmia, Tooth malposition OMIM:268320
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Fraser Syndrome 3
Hydrocephalus, Ascites, Nonimmune hydrops fetalis, Short toe, Cutaneous syndactyly, Oligohydramnios OMIM:617667
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of the dentition, Anal atresia, Short foot, Short stature, Postaxial polydactyly, Cle... OMIM:300968
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft upper lip, Cl... OMIM:153400
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Warburg Micro Syndrome 2
Postnatal growth retardation, Clinodactyly of the 5th toe, Microphthalmia, Clinodactyly of the 4t... OMIM:614225
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Short stature, Broad thumb, Short distal phala... ORPHA:503
X Small Rings
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Tapered finger, Growt... ORPHA:96201
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Cardiomyopathy, Exaggerated startle response, H... ORPHA:79255
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto... ORPHA:261250
Cranioectodermal Dysplasia 3
Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Sho... OMIM:614099
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Transverse facial cleft, Genu valgum, Anophthalmia, Hydr... OMIM:164210
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc... OMIM:236670
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Goldberg-Shprintzen Megacolon Syndrome
Short stature, Aganglionic megacolon, Finger syndactyly, Cleft palate ORPHA:66629
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad thumb, Long philtrum, Broad hallux phalanx, Exencephaly, ... ORPHA:2211
Refsum Disease
Abnormal epiphysis morphology, Microphthalmia, Hammertoe, Short metacarpal ORPHA:773
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto... ORPHA:2473
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Cleft upper lip, Cleft palate, Brachydactyly, Toe syndactyly, Tali... OMIM:100300
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelom... OMIM:600145
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Bilateral cleft palate, Abnormal d... ORPHA:3253
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... ORPHA:397715
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def... OMIM:222470
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, ... OMIM:619297
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Meckel diverticulum, Prominent f... OMIM:229850
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic syndrome, P... OMIM:615846
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cleft lip, Cleft palate, Cutaneous syndactyly ORPHA:2890
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Microphthalmia, Delayed eruption of teeth, High palate, Microdontia, Congeni... OMIM:268400
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, High pal... OMIM:209900
Culler-Jones Syndrome
Short stature, Cleft upper lip, Cleft palate, Postaxial polydactyly OMIM:615849
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormality of the dentition, To... ORPHA:3224
Prader-Willi Syndrome
Delayed puberty, Acromicria, Genu valgum, Radial deviation of finger, Polyhydramnios, Short foot,... OMIM:176270
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion... OMIM:268300
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Long fin... OMIM:617527
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Autosomal Recessive Multiple Pterygium Syndrome
Orofacial cleft, Spina bifida occulta, Finger syndactyly, High palate, Short stature, Camptodacty... ORPHA:2990
Holoprosencephaly 1
Tessier cleft, Microphthalmia, Alobar holoprosencephaly, Median cleft palate, Short stature, Ethm... OMIM:236100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Syndactyly, Umbilical hernia OMIM:614520
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Catel-Manzke Syndrome
Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bifid uvula, Short humerus, Um... OMIM:616145
Vater/Vacterl Association
Postnatal growth retardation, Occipital encephalocele, Hypoplasia of the radius, Preaxial polydac... OMIM:192350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:253800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ... OMIM:608203
Warburg Micro Syndrome 4
Microphthalmia, Severe postnatal growth retardation, Narrow mouth, Short stature, Long philtrum OMIM:615663
Cantú Syndrome
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Short distal phalanx of finger, ... ORPHA:1517
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Atrial septal defect OMIM:620327
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Bilateral mi... ORPHA:2399
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Narrow mouth, Tapered finger,... OMIM:616734
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Hepatomegaly, Splenomegaly OMIM:201100
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Anal atresia, Short stature, Clef... OMIM:309801
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly ORPHA:583
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly OMIM:105210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:352665
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100082
Cranioectodermal Dysplasia 2
Polydactyly, Widely spaced teeth, Rhizomelia, Hydrops fetalis, Polyhydramnios, High palate, Evert... OMIM:613610
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis,... OMIM:620029
Adnp Syndrome
Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Single transverse... ORPHA:404448
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos... OMIM:259720
Micro Syndrome
Delayed puberty, Microphthalmia, Short philtrum, High palate, Short stature, Intrauterine growth ... ORPHA:2510
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hypoplasia, Postaxial polydactyly, Bro... ORPHA:457284
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsillitis, Mucopolysacc... ORPHA:581
Neuroblastoma
Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ... ORPHA:635
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr... ORPHA:308552
8P11.2 Deletion Syndrome
Hypoplasia of penis, Spherocytosis, Splenomegaly, Mitral valve prolapse, Atrial septal defect, He... ORPHA:251066
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Short palm, Downturned corners of mouth, Cleft palate, Pierre-Robin ... OMIM:217980
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,... ORPHA:565612
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec... ORPHA:97214
Autosomal Dominant Robinow Syndrome
Severe short stature, Umbilical hernia, Long philtrum, Anodontia, Coxa valga, Hip dislocation, Sh... ORPHA:3107
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Abnormality of the dentition, Camptodactyly of finger, Long philtr... ORPHA:178303
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Tremor, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... ORPHA:97287
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Bifid uvula, Wide mouth, Thick verm... OMIM:618505
Fraser Syndrome 2
Microphthalmia, Rectal atresia, Narrow mouth, Anal atresia, Intestinal malrotation, Cutaneous syn... OMIM:617666
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Oroticaciduria, Thrombocytopenia, Leukopeni... OMIM:222700
Jacobsen Syndrome
Toe clinodactyly, Abnormal palate morphology, Finger syndactyly, Ectopic anus, Spina bifida, Inte... ORPHA:2308
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph... ORPHA:32960
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmo... ORPHA:2136
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul... ORPHA:14
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Polydactyly, Pituitary dwarfism, Optic nerve hypoplasia, Median cleft palate, Ab... ORPHA:95494
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Witteveen-Kolk Syndrome
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Arachnodactyly, Intraute... OMIM:613406
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dental crowding, High palate, Hip dysplasia, Increased nuchal translucency, Short stature, Hypopl... OMIM:620654
Cerebrofacioarticular Syndrome
Caudal appendage, Anal stenosis, Lymphedema, Narrow mouth, Camptodactyly, Irregular dentition, Sh... ORPHA:314679
22Q11.2 Deletion Syndrome
Microphthalmia, Intestinal malrotation, Arachnodactyly, Umbilical hernia, Long philtrum, Intraute... ORPHA:567
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Fontaine Progeroid Syndrome
High, narrow palate, Microphthalmia, Deep palmar crease, Hydrocephalus, Oligodontia, Absent dista... OMIM:612289
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Saethre-Chotzen Syndrome
Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha... ORPHA:794
Proteus Syndrome
Enlarged kidney, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic ovaries, Lym... ORPHA:744
Coccidioidomycosis
Abnormality of the kidney, Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormalit... ORPHA:228123
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Cleft palate, Toe syndactyly, ... ORPHA:1300
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Popliteal Pterygium Syndrome
Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Fi... OMIM:119500
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card... OMIM:610717
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Proximal placement of thumb, Spina bifida, Cleft up... OMIM:304050
Robinow Syndrome
Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid distal phalanx... ORPHA:97360
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia, Anal atresia, Absent thum... OMIM:610832
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:613001
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re... OMIM:263700
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Solitary median maxillary central incisor, Alobar ho... OMIM:157170
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia, 4-5 finger syndactyly, Narrow mouth, Lobar holo... ORPHA:468631
Atelis Syndrome 2
Microphthalmia, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturn... OMIM:620185
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... OMIM:142900
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Microphthalmia, Clinodactyly of the 5th finger, Narrow ... ORPHA:2108
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Tented upper lip vermilion, High palate, Deep philtrum ORPHA:314655
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Clinodactyly of the 5th finger, High palate, Short foot, Camptodactyly, Proportion... OMIM:227330
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l... OMIM:261540
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Cheilitis, Microphthalmia, Dental crowding, Everted lower lip vermilion, Tooth a... ORPHA:534
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Ring Chromosome 12 Syndrome
High, narrow palate, Abnormal 5th finger morphology, Growth delay, Symphalangism of the thumb, Sy... ORPHA:1439
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Polyhydramnios, Single transverse palmar crease, Ankyloglossia, Short stature, Ca... OMIM:620186
Frontofacionasal Dysplasia
Orofacial cleft, Microphthalmia, Cleft upper lip, Bifid uvula, Cranium bifidum occultum OMIM:229400
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Abnormal heart valve mo... ORPHA:355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Int... OMIM:210710
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Anal atresia, Hypoplastic pelvis, Cleft upper lip, Cleft palate OMIM:273395
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... ORPHA:79500
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Tibial b... OMIM:211350
Mosaic Trisomy 16
Large placenta, Meckel diverticulum, Single transverse palmar crease, Wide mouth, Syndactyly, Sho... ORPHA:1708
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Preaxial polydactyly, Po... OMIM:615948
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Olig... OMIM:148050
Traboulsi Syndrome
Short finger, Microphthalmia, Cubitus valgus, High palate, Arachnodactyly, Bifid uvula, Broad hal... OMIM:601552
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... ORPHA:1112
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Clinodactyly of the 5th finger, Broad alveolar ridges, High palate, Furrowed tong... OMIM:616975
Rabson-Mendenhall Syndrome
Polydactyly, Advanced eruption of teeth, Severe postnatal growth retardation, Dental crowding, Gi... ORPHA:769
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Cockayne Syndrome B
Postnatal growth retardation, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, ... OMIM:133540
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... ORPHA:51
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Short stature, Submucous cleft of so... OMIM:301022
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Optic nerve hypoplasia, Intrauterine growth retardation, Long philtrum, Long ... ORPHA:508488
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Palmoplantar hyperkeratosis, Finger... ORPHA:2907
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Carcinoid Syndrome
Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ... ORPHA:100093
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Oligodactyly,... ORPHA:69085
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Elevated circulating hepatic transaminas... OMIM:269700
Saethre-Chotzen Syndrome
Narrow palate, Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pel... OMIM:101400
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Polyhydramnios, D... ORPHA:3144
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... OMIM:619525
Fanconi Anemia, Complementation Group E
Microphthalmia, Absent radius, Short stature, Absent thumb, Short thumb, Complete duplication of ... OMIM:600901
Short Stature With Microcephaly And Distinctive Facies
Proximal placement of thumb, Severe short stature, Syndactyly, Brachydactyly, Short distal phalan... OMIM:615789
Neuroocular Syndrome
Microphthalmia, Widely spaced teeth, Deep palmar crease, Short uvula, Clinodactyly of the 5th fin... OMIM:619539
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Thin long bone diaphyses, Persistence of ... ORPHA:93325
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Eec Syndrome
Orofacial cleft, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly,... ORPHA:1896
Carpenter Syndrome 2
Broad thumb, Umbilical hernia, Long philtrum, Narrow palate, Camptodactyly, Carious teeth, Preaxi... OMIM:614976
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o... ORPHA:1071
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly OMIM:618087
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital... OMIM:236700
Fanconi Anemia, Complementation Group C
Microphthalmia, Absent radius, Short stature, Complete duplication of thumb phalanx, Absent thumb... OMIM:227645
Kapur-Toriello Syndrome
Intestinal malrotation, Orofacial cleft, Microphthalmia ORPHA:2328
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy... OMIM:107480
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system... ORPHA:538
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Poland Syndrome
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... ORPHA:2911
Monosomy 9P
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Narrow m... ORPHA:261112
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Autosomal Recessive Faciodigitogenital Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Open bite, High palate, Everted lower lip verm... ORPHA:1974
Blau Syndrome
Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell carcinoma, Splenomegaly, Abnormality... ORPHA:90340
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Polyhydramnios, Short clavicles, Short long bone,... OMIM:617088
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Fanconi Anemia, Complementation Group A
Microphthalmia, Absent radius, Short stature, Absent thumb, Short thumb, Complete duplication of ... OMIM:227650
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Microphthalmia OMIM:301108
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia, Abnormality of the dentition ORPHA:1806
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Pyloric stenosis, Arachnodactyly, Sho... ORPHA:464306
Histiocytoid Cardiomyopathy
Pulmonary edema, Microphthalmia, Hydrocephalus, Congenital aphakia, Cleft palate ORPHA:137675
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Crimean-Congo Hemorrhagic Fever
Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Acute pancreatitis... ORPHA:99827
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Exaggerated startle response, Partial atrioventricular canal defect, Dy... OMIM:620423
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Renal insu... ORPHA:449432
Down Syndrome
Atrioventricular canal defect, Renal hypoplasia/aplasia, Leukemia, Abnormality of the lymphatic s... ORPHA:870
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Aicardi Syndrome
Delayed puberty, Microphthalmia, Intestinal polyposis, Short philtrum, Cleft upper lip, Cleft pal... ORPHA:50
Degcags Syndrome
Microphthalmia, Wide mouth, Syndactyly, Long philtrum, Intrauterine growth retardation, Polydacty... OMIM:619488
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Dystonia, Cardio... OMIM:620371
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Oculoauricular Syndrome
Short mandibular rami, Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular... OMIM:612109
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Sclerosteosis 1
Tooth malposition, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense ... OMIM:269500
Reynolds Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil... OMIM:613471
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D... ORPHA:2331
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Hypoplasia of teeth, Microphthalmia OMIM:234050
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Okamoto Syndrome
Polydactyly, Anal stenosis, Abnormally large globe, Severe postnatal growth retardation, Open bit... ORPHA:2729
Khan-Khan-Katsanis Syndrome
Triangular mouth, Short stature, Postaxial polydactyly, Tented upper lip vermilion, Intrauterine ... OMIM:618460
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Prominent fingertip pads, Microdontia, Broad thumb, Bifid uvula, Short distal pha... OMIM:612474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Microdontia, Thick vermilion border, Smooth ... OMIM:620005
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Carney Triad
Ascites, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Syndactyly, Smooth philtrum, Short stature OMIM:616430
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Monosomy 22
Thin vermilion border, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palma... ORPHA:96123
Renpenning Syndrome 1
Microphthalmia, Clinodactyly of the 5th finger, Short philtrum, High palate, Narrow mouth, Anal a... OMIM:309500
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic activ... ORPHA:289390
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocy... OMIM:256040
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci... OMIM:617913
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Cutis Marmorata Telangiectatica Congenita
Orofacial cleft, Finger syndactyly, Abnormality of the upper limb, Ascites, Short lower limbs, In... ORPHA:1556
Leptospirosis
Acute kidney injury, Hepatomegaly, Jaundice, Lymphadenopathy, Cellular urinary casts, Pericarditi... ORPHA:509
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati... OMIM:608594
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Polyhydramnios, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn... ORPHA:373
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Pedal edema, Short stature, Long hallux, Syndactyly, Umbi... OMIM:618164
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Hypoplasia of the radius, Abnormal salivary gland morphology, Abnormal thumb mor... ORPHA:2363
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Thoracoabdominal Syndrome
Hydrocephalus, Cleft upper lip, Cleft palate, Anencephaly OMIM:313850
Loeys-Dietz Syndrome 2
Hydrocephalus, Absent distal phalanges, Camptodactyly, Eosinophilic infiltration of the esophagus... OMIM:610168
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Hepatomegaly, Hypertrophic cardiomyopathy, Elevated ci... ORPHA:365
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Polydactyly, Supernumerary tooth, Short 5th toe, Widely spaced teeth, 2-4 toe cutaneous syndactyl... ORPHA:268261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation... ORPHA:353277
Behçet Disease
Glomerulopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal... ORPHA:117
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:99826
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Pericardial effusion, Sp... OMIM:181000
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Microphthalmia/Coloboma 12
Growth delay, Microphthalmia, Optic nerve aplasia OMIM:120200
Lacrimoauriculodentodigital Syndrome 1
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... OMIM:149730
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Long Qt Syndrome 8
Syndactyly OMIM:618447
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Microphthalmia, Severe short stature, Abnormality of the medullar... OMIM:127000
Schinzel-Giedion Syndrome
Aganglionic megacolon, Neural tube defect, Short philtrum, Delayed eruption of teeth, Hypoplastic... ORPHA:798
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Trichothiodystrophy 1, Photosensitive
Short stature, Intestinal obstruction, Microphthalmia, Triangular mouth OMIM:601675
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Rectovagina... ORPHA:857
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Broad alveolar ridges, Flat acetabular roof, Absent t... OMIM:216340
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Bloom Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Growth delay, Hand polydactyly, Syn... OMIM:210900
Semilobar Holoprosencephaly
Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Short ... ORPHA:220386
Neurocardiofaciodigital Syndrome
Polydactyly, Thin vermilion border, High palate, Short stature, Syndactyly OMIM:619869
Alobar Holoprosencephaly
Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Short ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Short ... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Short ... ORPHA:93924
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi... ORPHA:97297
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Long philtrum, Overlapping toe, Tooth malposition, Abnormality of the dentition,... ORPHA:480880
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Papillorenal Syndrome
Short stature, Microphthalmia, Edema OMIM:120330
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ... ORPHA:536
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Trichothiodystrophy
High, narrow palate, Bilateral microphthalmos, Clubbing, Enamel hypoplasia, Carious teeth, Umbili... ORPHA:33364
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response OMIM:608800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Incontinentia Pigmenti
Microphthalmia, Delayed eruption of teeth, Conical tooth, Oligodontia, Short stature, Hypoplasia ... OMIM:308300
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... ORPHA:1519
Loeys-Dietz Syndrome 1
Hydrocephalus, High palate, Postaxial hand polydactyly, Camptodactyly, Eosinophilic infiltration ... OMIM:609192
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, High palate, Wide mouth, Aplasia/Hypoplasia involving the shoulder muscul... ORPHA:1521
Choanal Atresia
Polydactyly ORPHA:137914
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Recurrent urinary tract infections, Leukocytosis, Neutrophilia, Microcytic ... ORPHA:99843
Bardet-Biedl Syndrome 20
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly OMIM:619471
Adult Syndrome
Finger syndactyly, Abnormality of the dentition, Abnormal dental morphology, Split foot, Toe synd... ORPHA:978
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Orofacial cleft, Growth delay, Short humerus, Short femur ORPHA:17
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Dental malocclusion, High palate, Hypoplasia of teeth, Cleft palate, Cleft lip OMIM:603457
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... OMIM:609049
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol... ORPHA:2908
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Hypoplastic pelvis, Wide mouth, Long philtrum, Dental malocclusion OMIM:612731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Patent foramen ovale, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle respons... ORPHA:438213
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
African Trypanosomiasis
Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Tremor, Pericarditis,... ORPHA:3385
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chroni... ORPHA:100079
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Genu varum, Finger syndactyly, Short stature ORPHA:1969
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate OMIM:110100
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Tremor, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:300967
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly OMIM:612132
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin... ORPHA:556
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Hypop... OMIM:188400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Legius Syndrome
Short stature, Polydactyly, Clinodactyly of the 5th finger ORPHA:137605
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Wrist swelling, Joint contracture of the hand, Genu valgum, Microph... OMIM:309000
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperiton... ORPHA:449563
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Tibial bowing, Short stature, Metaphyseal widening, Phthisis bulbi OMIM:259770
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long to... ORPHA:261537
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Holoprosencephaly, Syndactyly, Long philtrum, Jejunal atresia OMIM:618820
Cherubism
Marcus Gunn pupil, Submandibular lymph node enlargement OMIM:118400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Hydrocephalus, Everted lower lip vermilion, Hypoplasia of the retina, Buphthalmos OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Bardet-Biedl Syndrome
Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Hypodontia, Dental crowdin... ORPHA:110
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Scalp-Ear-Nipple Syndrome
Palpebral edema, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Short sta... OMIM:181270
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Abnormal dental morphology, Enamel... ORPHA:191
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 to... OMIM:620025
Alstrom Syndrome
Short stature, Polydactyly, Gingivitis, Abnormality of the dentition OMIM:203800
Coffin-Siris Syndrome 12
Hip subluxation, High palate, Slender finger, Short stature, Broad thumb, Velopharyngeal insuffic... OMIM:619325
Mowat-Wilson Syndrome
Microphthalmia, Dental crowding, Everted lower lip vermilion, Bifid uvula, Syndactyly, Adducted t... ORPHA:2152
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy, Tubulointerstitial nephritis ORPHA:79078
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Yellow Fever
Acute kidney injury, Jaundice, Anuria, Acute pancreatitis, Leukocytosis, Elevated circulating ala... ORPHA:99829
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response, Lacticaciduria OMIM:620451
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Optic nerve hypoplasia, High palate, Toe clinodactyly, Long fingers, Bifid uvula, Umb... OMIM:620330
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Increased urinary cortisol level, Lym... ORPHA:99889
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu... ORPHA:51608
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal par... OMIM:154500
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long to... ORPHA:261552
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... OMIM:150230
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Plague
Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis ORPHA:707
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag... OMIM:619522
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Mild postnatal growth retardation, Microphthalmia ORPHA:90324
Mowat-Wilson Syndrome
Microphthalmia, Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption o... OMIM:235730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:175780
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Norrie Disease
Delayed puberty, Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasi... ORPHA:649
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological process term hypoplasia Rgl1em1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological entity term histiocytic sarcoma Rgl1em1(IMPC)Mbp HET Early adult
Lymph node - MPATH pathological entity term histiocytic sarcoma Rgl1em1(IMPC)Mbp HET Early adult

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 Rgl1.

No publications found that use IMPC mice or data for Rgl1.

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
Rgl1tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rgl1tm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Rgl1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Rgl1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Rgl1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rgl1tm41618(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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