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Gene: Rgl1 MGI:107484

Gene Summary

Name:

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms:

Rgl

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
edema	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal neural tube morphology	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged lymph nodes	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged heart	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
syndactyly	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
increased startle reflex	Rgl1^em1(IMPC)Mbp	HET	Early adult	7.80×10^-08
enlarged spleen	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
polydactyly	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal limb morphology	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
increased red blood cell distribution width	Rgl1^em1(IMPC)Mbp	HET	Early adult	8.27×10^-05
cleft palate	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
increased neutrophil cell number	Rgl1^em1(IMPC)Mbp	HET	Early adult	3.28×10^-06
abnormal embryo turning	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
decreased prepulse inhibition	Rgl1^em1(IMPC)Mbp	HET	Early adult	5.08×10^-07
increased heart weight	Rgl1^em1(IMPC)Mbp	HET	Early adult	1.37×10^-06
preweaning lethality, complete penetrance	Rgl1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta morphology	Rgl1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal neural tube closure	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal spleen morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal midbrain development	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased mean corpuscular volume	Rgl1^em1(IMPC)Mbp	HET	Early adult	3.35×10^-05
abnormal hindbrain development	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal kidney morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Rgl1^em1(IMPC)Mbp	HOM	E15.5	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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

57 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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Gross Morphology Embryo E9.5

Images

17 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.

Human diseases associated with Rgl1 (0 diseases)
Human diseases predicted to be associated with Rgl1 (1693 diseases)

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	Matching phenotypes	Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly	OMIM:611638
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ...	OMIM:600776
Anencephaly 2	Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence...	OMIM:619452
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia	OMIM:233270
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin...	OMIM:613885
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Hydrolethalus	Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Microphthalmia, Anophthalmia, Subm...	ORPHA:2189
Anophthalmia Plus Syndrome	Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli...	ORPHA:1104
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft p...	OMIM:616570
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e...	OMIM:206920
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate	OMIM:164180
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Lob...	ORPHA:2117
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Meckel Syndrome, Type 2	Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th...	OMIM:603194
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Biemond Syndrome Type 2	Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature	ORPHA:141333
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly	ORPHA:294975
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P...	OMIM:611561
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	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	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p...	ORPHA:2935
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip...	ORPHA:93323
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Bilateral single transverse palmar creases, Short stature, Clino...	ORPHA:2216
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ...	OMIM:311895
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Mmep Syndrome	Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Split foot	ORPHA:3434
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:139406
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia...	OMIM:611134
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnormality of the philtr...	ORPHA:3268
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Trisomy 1Q	Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Increased nuchal translucency...	ORPHA:261344
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow...	OMIM:619110
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Frontonasal Dysplasia 1	Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger...	OMIM:136760
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod...	ORPHA:3378
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ...	OMIM:147250
Meckel Syndrome, Type 11	Oligohydramnios, Occipital encephalocele, Polydactyly	OMIM:615397
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max...	ORPHA:66625
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Microphthalmia, Syndromic 12	Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia	OMIM:615524
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Short stature, Clinodactyly of the 5th finger, High p...	ORPHA:376
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypertrophic cardiomy...	OMIM:617303
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Occipital encephalocele, Hydrocephalus, Microphthalmia	ORPHA:324416
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate	OMIM:600251
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
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	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Smooth philtrum, Hydrocephalus, Microphthalmia, Syndactyly	OMIM:602501
Acalvaria	Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate	ORPHA:945
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Encephal...	OMIM:605627
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Brachydactyly, Microphthalmia, Short stature, Syndactyly	OMIM:610023
15Q11Q13 Microduplication Syndrome	Short stature, Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Thrombocytopenia, Hepatomegaly, Dystonia, Hemolytic anemia	OMIM:615010
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno...	OMIM:613313
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p...	OMIM:607361
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Intention tremor	OMIM:610539
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Ventricular septal defect, Hematuria, P...	OMIM:258900
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, High palate, Proxima...	ORPHA:139471
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:614120
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hyp...	ORPHA:3412
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Tremor, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, Short stature, High palate, Cleft palate, Synda...	OMIM:300484
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Joubert Syndrome 18	Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Bowing of the long bone...	OMIM:614815
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd...	OMIM:252100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Tyrosinemia, Type I	Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h...	OMIM:276700
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Syndactyly, Scapular winging, Short stature, Cleft palate, Upper limb ...	ORPHA:2901
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Microphthalmia, Polyhydramnios, Cle...	ORPHA:261272
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Thick anterior alveolar ridges, Talipes equinovarus, Ap...	ORPHA:2839
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r...	OMIM:600325
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome	OMIM:269920
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Hypodontia, Brachydact...	ORPHA:1598
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Microphthalmia, Syndromic 8	Cleft upper lip, Orofacial cleft, Cleft palate, Microphthalmia, Widely-spaced maxillary central i...	OMIM:601349
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Bardet-Biedl Syndrome 7	Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Microphthalmia, Holop...	ORPHA:77298
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, Selective tooth agenesis, Widely spaced tee...	OMIM:225280
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Short st...	OMIM:600384
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Microcephaly-Microcornea Syndrome, Seemanova Type	Narrow mouth, Microphthalmia, Short stature, High palate, Growth delay	ORPHA:2528
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Foll...	OMIM:603909
Triploidy	Finger syndactyly, Intestinal malrotation, Intrauterine growth retardation, Wide mouth, Narrow mo...	ORPHA:3376
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Microphthalmia	ORPHA:2432
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia, Microphthalmia	ORPHA:291
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Thin vermilion border, Pr...	OMIM:602342
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Narrow mouth, Com...	ORPHA:363417
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614034
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Brachydactyly, Hydrocepha...	OMIM:602361
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype...	OMIM:601859
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Bilateral microphthalmo...	OMIM:607597
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Bresek Syndrome	Intrauterine growth retardation, Aganglionic megacolon, Hydrocephalus, Microphthalmia, Postaxial ...	ORPHA:85284
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Narrow mouth, Microphthalmia, Polyhydramnios, Anal atresia	ORPHA:3469
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Abnormality of the dentition, Microphthalmia	OMIM:251700
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo...	ORPHA:3104
Immunodeficiency 53	Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, N...	OMIM:617585
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha...	DECIPHER:46
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Tremor, Hepatomegaly	OMIM:616719
Meckel Syndrome	Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed...	ORPHA:564
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Joubert Syndrome 22	Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Microphthalmia, ...	OMIM:615665
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wrinkling of pa...	ORPHA:487825
Blepharocheilodontic Syndrome 1	Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu...	OMIM:119580
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum, Short stature	OMIM:618123
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Leukopenia, Pancytopenia, Splenomegaly, ...	ORPHA:507
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de...	OMIM:614175
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Oligohydram...	OMIM:251230
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Micromelia, Finger syndactyly, Intrauterine growth retardation, Encephalocele,...	ORPHA:1908
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, P...	OMIM:258860
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Microphthalmia, Submucous cleft hard palat...	ORPHA:2712
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor...	ORPHA:411986
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Narrow mouth, Abnormal metacarpal morphology, Triphalangeal th...	ORPHA:1406
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Walker-Warburg Syndrome	Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Anophthalmia, Hydrocephalus, Microph...	ORPHA:899
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Triangular mouth, Cutaneous syndactyl...	ORPHA:166024
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t...	ORPHA:2476
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Renal dysplasia,...	OMIM:608836
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short...	OMIM:169550
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Abnormal palate morphology, Brachydactyly, Microphthalmia, ...	ORPHA:1777
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Braddock-Carey Syndrome 2	Clinodactyly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence	OMIM:619981
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia	OMIM:609054
Niemann-Pick Disease, Type A	Athetosis, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransfe...	OMIM:257200
Humero-Radial Synostosis	Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Me...	ORPHA:3265
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Microglossia, Me...	OMIM:241800
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Hydrocephalus, Microphthalmia, Anal ...	OMIM:617244
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Curry-Jones Syndrome	Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-...	OMIM:601707
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Cofs Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Everted lower lip vermilion, Microphtha...	ORPHA:1466
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Cleft upper lip, Widely spaced teeth, Thick vermilion border, Tented upper lip vermil...	OMIM:612530
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Splenomegaly	ORPHA:77260
Fanconi Anemia, Complementation Group G	Growth delay, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Holoprosencephaly 9	Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic...	OMIM:610829
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnormal thumb morphology...	ORPHA:1825
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp...	OMIM:613179
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Hypochromia, Poikilocytosis, Hepatomegaly, Elevated h...	OMIM:615234
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Monosomy 5P	Small hand, Finger syndactyly, Intrauterine growth retardation, Short stature, High palate	ORPHA:281
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite...	OMIM:617021
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu...	ORPHA:449395
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Bartsocas-Papas Syndrome 2	Small hand, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2-5 finger cuta...	OMIM:619339
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Talipes equinovarus, Intrauterine growth retardation, Microphthalmia	OMIM:616171
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Craniofacial Microsomia 2	Bifid uvula, Dermal sinus tract, Submucous cleft palate	OMIM:620444
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of ...	ORPHA:2251
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Microgastria-Limb Reduction Defect Syndrome	Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Abnormal metacarpal morphology, R...	ORPHA:2538
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretion in urine, Hepat...	ORPHA:505248
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Postnatal growth retardation, Polydactyly, Short stature, Clinodactyly of the 5t...	ORPHA:231140
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of ...	OMIM:617926
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, Hi...	ORPHA:168569
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth...	ORPHA:397590
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:120433
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Joubert Syndrome 14	Open mouth, Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Short philtrum, Hyd...	OMIM:614424
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ...	OMIM:618280
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
6P22 Microdeletion Syndrome	Hydrocephalus, Abnormal palate morphology, Finger syndactyly, Clinodactyly	ORPHA:251046
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Cleft palate, Split hand, Split foot	OMIM:183700
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han...	OMIM:277170
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Anal atresia, Hip dysplasia	ORPHA:195
Focal Dermal Hypoplasia	Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel...	OMIM:305600
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Open mouth, Encephalocele, Irregular dentition, Talipes equinovarus, Small thena...	OMIM:619148
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,...	ORPHA:98850
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Intestinal malrotation...	ORPHA:1553
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Lissencephaly 8	Talipes equinovarus, Occipital encephalocele, Microphthalmia	OMIM:617255
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph...	ORPHA:93267
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Microphthalm...	OMIM:146510
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Splenomegaly, C...	OMIM:235200
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina...	ORPHA:398124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Spina bifida, Polyhydramnios,...	OMIM:616038
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Clino...	ORPHA:250989
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Duodenal stenosis, Camptodactyly of finger, Microphthalmia, Polyhydramnios, Symphalangism affecti...	ORPHA:2547
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
3P25.3 Microdeletion Syndrome	High, narrow palate, Pyloric stenosis, Broad thumb, Broad hallux, Downturned corners of mouth, Ov...	ORPHA:435638
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Hydrocephalus, Cleft palate	OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Hydrocephalus, Microphthalmia	OMIM:613155
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia...	ORPHA:1438
Acrofacial Dysostosis, Catania Type	Carious teeth, Intrauterine growth retardation, Single transverse palmar crease, Brachydactyly, S...	OMIM:101805
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Rhombencephalosynapsis	Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E...	ORPHA:59315
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Single transverse palmar cre...	OMIM:614701
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Abnormal lymph...	ORPHA:85450
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar...	ORPHA:2437
Holoprosencephaly	Spinal dysraphism, Tooth agenesis, Branchial anomaly, Encephalocele, Anophthalmia, Median cleft p...	ORPHA:2162
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Frontorhiny	Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence...	ORPHA:391474
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Schisis Association	Unilateral cleft lip, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at...	ORPHA:63862
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Ascites, Absent hand, Encephalocele, Abnormal ...	ORPHA:974
Adams-Oliver Syndrome 2	Oligohydramnios, Absent distal phalanges, Single transverse palmar crease, Hydrocephalus, Microph...	OMIM:614219
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Oligohydramnios, Increased nuchal translucen...	OMIM:619879
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,...	OMIM:603543
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Intrauterine growth retardation, Oligohydramnios, En...	ORPHA:228390
Nanophthalmos	Microphthalmia	ORPHA:35612
Septooptic Dysplasia	Optic disc hypoplasia, Short finger, Polydactyly, Short stature, Optic nerve hypoplasia	OMIM:182230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia, Thrombocytopen...	ORPHA:289916
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Long philtrum, Umbilical hernia, Camptodactyly of...	ORPHA:1101
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate...	OMIM:601357
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ...	ORPHA:1786
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Sho...	OMIM:169400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, High palat...	ORPHA:163649
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Microphthalmia, Syndromic 5	Anophthalmia, Microphthalmia, Short stature, Cleft palate, Optic nerve hypoplasia	OMIM:610125
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Add...	ORPHA:1794
Cockayne Syndrome Type 2	Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, An...	ORPHA:90322
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Talipes equinovarus, Bowed forearm bones,...	OMIM:612651
Sialidosis Type 2	Nephropathy, Ascites, Splenomegaly, Tremor, Hepatomegaly	ORPHA:87876
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Triangular mouth, Flatt...	OMIM:607131
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Seckel Syndrome 2	Microglossia, Microdontia, Microphthalmia, Short stature, Clinodactyly of the 5th finger, Growth ...	OMIM:606744
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, ...	ORPHA:2635
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Overlapping toe, Intrau...	OMIM:613792
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Encephalocele, 2-3 toe syndacty...	OMIM:264480
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Finger syndactyly, Camptodactyly of...	ORPHA:2994
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Narrow palm, Short stature, Holoprosencephaly, Syndactyly	ORPHA:1445
Warburg Micro Syndrome 1	Overlapping toe, Narrow mouth, Microphthalmia, Short stature, Thin vermilion border	OMIM:600118
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Optic nerve aplasia, Short 5th me...	ORPHA:264200
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Overlapping...	OMIM:618494
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Disproportionate short stature, Arthralgia...	ORPHA:1856
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Intrauterine growth retardation, Oligohydramnios, Split hand, Brac...	ORPHA:2145
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Microdontia, Down-sloping shoulders, Cubitus valgus, Microphthalmia, Camptod...	OMIM:619694
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal ma...	ORPHA:93259
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Aarskog-Scott Syndrome	Abnormality of the dentition, Small hand, Finger syndactyly, Delayed eruption of teeth, Camptodac...	ORPHA:915
Sandestig-Stefanova Syndrome	Clinodactyly, Intrauterine growth retardation, Bilateral single transverse palmar creases, Orofac...	OMIM:618804
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim...	ORPHA:88630
Bardet-Biedl Syndrome 16	Short stature, Polydactyly	OMIM:615993
Trisomy 18	Narrow mouth, Bilateral single transverse palmar creases, Microphthalmia, Anal atresia, Holoprose...	ORPHA:3380
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Deep palmar crease, Brachydactyly, Genu varum, Short st...	OMIM:619451
Microphthalmia, Syndromic 2	Hand clenching, Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, T...	OMIM:300166
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Congenital Sialidosis Type 2	Umbilical hernia, Ascites, Gingival overgrowth, Protruding tongue, Polydactyly, Hypoplasia of the...	ORPHA:93400
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Thick lower lip vermilion, Hand polydactyly, Irregularl...	OMIM:300337
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Abnormal palate morphology, Deep philtrum, Spi...	ORPHA:2475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic steatosis, Nephrolithiasis, Proteinuria...	ORPHA:79259
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration...	OMIM:615895
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Bilater...	OMIM:610758
Immunodeficiency 10	Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyt...	OMIM:612783
Scrub Typhus	Renal insufficiency, Splenomegaly, Tremor, Lymphadenopathy, Myocarditis	ORPHA:83317
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypop...	OMIM:616300
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lymphadenop...	ORPHA:97290
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra...	OMIM:617866
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartat...	OMIM:212140
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Limited elbow extension, Narrow mouth, Irregular epiphyses of the metacar...	OMIM:614078
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome...	ORPHA:290
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Finger joint contracture, Short stature, Flexion...	ORPHA:48431
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Glo...	ORPHA:2169
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He...	OMIM:600649
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh...	OMIM:113000
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly, Microphthalmia	OMIM:614526
Mosaic Trisomy 9	Tessier cleft, Rocker bottom foot, Elbow dislocation, Finger clinodactyly, Camptodactyly of finge...	ORPHA:99776
Achondrogenesis, Type Ii	Abnormally large globe, Disproportionate short-limb short stature, Long philtrum, Broad long bone...	OMIM:200610
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Anemia, Abnormal d...	OMIM:214500
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Micromeli...	OMIM:224400
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Cleft palate, Microphthalmia	ORPHA:1135
Microphthalmia, Syndromic 13	Short stature, Widely-spaced incisors, Microphthalmia	OMIM:300915
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Lymphedema, Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Camptodactyly, Growth...	OMIM:616006
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Microphthalmia, Short ...	OMIM:617883
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab...	ORPHA:1897
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph...	ORPHA:2166
Steinfeld Syndrome	Bifid uvula, Median cleft palate, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, Hypopl...	OMIM:184705
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal metacarpal morphology, Eve...	ORPHA:251014
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Sandal gap, Long philtrum, Microphthalmia	OMIM:300887
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi...	ORPHA:3103
Cohen Syndrome	Finger syndactyly, Genu valgum, Open mouth, Narrow palm, Arachnodactyly, Microphthalmia, High, na...	ORPHA:193
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Downturned corners of mouth, Widely spa...	ORPHA:369891
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome, Athetosis	ORPHA:834
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f...	OMIM:618914
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermilion, Postaxial poly...	OMIM:616362
Charge Syndrome	Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Anophthalmia, Microphthalm...	ORPHA:138
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ...	ORPHA:90652
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq...	ORPHA:93307
Fraser Syndrome 1	Tessier cleft, Dental malocclusion, Dental crowding, Bilateral microphthalmos, Cleft upper lip, M...	OMIM:219000
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Increased mean corpuscular volume, Horseshoe kidney, Tetralogy of ...	OMIM:612562
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital meningocele, ...	OMIM:616546
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Intrauterine g...	ORPHA:364577
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disproportionate short...	ORPHA:85166
Craniodigital-Intellectual Disability Syndrome	Short stature, Spina bifida occulta, Finger syndactyly	ORPHA:1514
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Oligohydramnios, Single transverse palmar crease, 2-3 toe syndactyly, Talipes eq...	OMIM:236500
Enlarged Parietal Foramina	Cleft lip, Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Cleft palate	ORPHA:60015
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele, Cleft palate	ORPHA:66637
Diprosopus	Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Aase-Smith Syndrome I	Slender finger, Open mouth, Talipes equinovarus, Hydrocephalus, Cleft palate	OMIM:147800
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Small thenar eminence, Microphthalmia, Absent radius, Anal atresia, ...	OMIM:607323
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Long philtrum, Postnatal growth retardation, ...	OMIM:248700
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Dystonia, Splenomegaly	OMIM:230650
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H...	OMIM:311300
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph...	OMIM:615761
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ...	OMIM:615777
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans...	OMIM:216360
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopat...	ORPHA:116
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ...	OMIM:244300
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Myelomeningocele, Hamartoma ...	OMIM:311200
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Abnormal heart morphology, Hepatic cysts, Abnorma...	ORPHA:79328
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Everted lower lip vermilion, Microphthalmia, High palate, Pierr...	OMIM:608670
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp...	OMIM:620632
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, High pala...	OMIM:147891
Q Fever	Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Abnormal heart val...	ORPHA:781
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ...	OMIM:602418
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P...	OMIM:618727
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn...	OMIM:200990
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Microphthalmia, Short stature, Non-midline cleft of the upper lip, ...	ORPHA:1791
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Hydranencephaly, Cleft palate	OMIM:601355
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	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Basal Cell Nevus Syndrome 1	Palmar pits, Hamartomatous stomach polyps, Short distal phalanx of the thumb, Cleft upper lip, Po...	OMIM:109400
Baraitser-Winter Syndrome 2	Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Short stature, Wide mouth	OMIM:614583
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Teebi-Shaltout Syndrome	High, narrow palate, Caudal appendage, Prominent palatine ridges, Wide mouth, Narrow mouth, Singl...	OMIM:272950
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fi...	OMIM:613091
Craniofrontonasal Dysplasia	Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin...	ORPHA:1520
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Intrauterine growth retardation, Post...	OMIM:618142
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Oligodontia, Short 4th ...	ORPHA:1787
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Matthew-Wood Syndrome	Intrauterine growth retardation, Anophthalmia, Duodenal stenosis, Microphthalmia	ORPHA:2470
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
3Q29 Microduplication Syndrome	Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Ectopic...	ORPHA:251038
Fraser Syndrome	Anal stenosis, Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Umbilical...	ORPHA:2052
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Erythroid hyperplas...	ORPHA:79277
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl...	OMIM:252500
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Disproportionate short stature, Radial bowing, Micromelia, A...	ORPHA:2879
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, High palate, Abnormal ...	ORPHA:79321
Aregenerative Anemia	Bone marrow hypocellularity, Fatigable weakness of skeletal muscles, Pancytopenia, Decreased prop...	ORPHA:101096
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Mend Syndrome	Asymmetry of the mouth, Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, H...	ORPHA:401973
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Long philtrum, Umbilical hernia, Microphthalmia, Short stature, Cleft palate, Upper limb a...	ORPHA:2505
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Protruding tongue, Alveolar ridge...	OMIM:612938
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Narrow mouth, Orofacial cleft, Hydrocephalus, Microphtha...	ORPHA:3301
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, Gro...	OMIM:610756
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,...	ORPHA:2788
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Broad first metatarsal...	ORPHA:2751
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concent...	ORPHA:811
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Otodental Syndrome	Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo...	ORPHA:2791
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Hydrocephalus, Microphthalmia, Foot po...	ORPHA:268249
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Seckel Syndrome 1	Ivory epiphyses, Postnatal growth retardation, High palate, Dislocated radial head, Cone-shaped e...	OMIM:210600
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Temtamy Syndrome	Dental crowding, Long philtrum, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe...	OMIM:218340
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Pleural effusion, Talipes equ...	OMIM:617822
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio...	ORPHA:313781
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Suleiman-El-Hattab Syndrome	Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Single trans...	OMIM:618950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Open bite, Microphthalmia, Duodenal atresia, Upper limb asymme...	ORPHA:2092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Hypoplastic ischia, Polydactyly	OMIM:616910
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Anal atresia, Cleft palate, Syndactyly	OMIM:220210
Martsolf Syndrome 1	Tooth malposition, Broad femoral neck, Short toe, Slender ulna, Long philtrum, Avascular necrosis...	OMIM:212720
Tarp Syndrome	Meckel diverticulum, Clinodactyly, Intrauterine growth retardation, Oligohydramnios, Single trans...	OMIM:311900
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Heart And Brain Malformation Syndrome	High, narrow palate, Hand clenching, Cleft lip, Camptodactyly of finger, Thick lower lip vermilio...	OMIM:616920
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:614402
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Open mouth, Short philtrum, Brachydac...	ORPHA:710
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, Cleft upper lip, Tented upper lip vermil...	OMIM:600987
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Deep palmar crease, Abnormal oral frenulum morphology,...	ORPHA:1752
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Cleft lip, Prominent fingertip pads, Thick vermilion border, Joint contracture of the 5th finger,...	OMIM:620098
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Long philtrum, Talipes equin...	ORPHA:3447
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p...	OMIM:602782
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Microphthalmia, S...	OMIM:256520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog...	ORPHA:85167
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To...	ORPHA:2686
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Umbilical hernia, Advanced tarsa...	OMIM:269250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Narrow...	ORPHA:1865
Baraitser-Winter Syndrome 1	Long philtrum, Cleft upper lip, Postnatal growth retardation, Thin upper lip vermilion, Orofacial...	OMIM:243310
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Garg-Mishra Progeroid Syndrome	Dental crowding, Slender long bone, Slender metacarpals, Postnatal growth retardation, Microphtha...	OMIM:620601
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Small hand, Long philtrum, Postnatal growth retardation, Thin vermilion border, Thin...	OMIM:241410
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Diaphyseal undertubulation, Finger ...	OMIM:620663
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,...	OMIM:201475
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Wide mouth, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Triphala...	ORPHA:2549
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret...	ORPHA:3472
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe...	OMIM:261740
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru...	ORPHA:1942
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Joubert Syndrome 37	Postaxial polydactyly, High palate, Short stature, Microphthalmia	OMIM:619185
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Abnormally large globe, Hydrocephalus	OMIM:603387
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Anophthalmia, Submucous c...	ORPHA:2250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Myocarditis,...	ORPHA:809
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Hypopla...	ORPHA:1352
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Prominent fin...	OMIM:305450
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Oligodontia, Thin upper lip vermilion, Brachydactyl...	OMIM:616331
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly, Cardiomyopathy	OMIM:619046
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Cleft upper lip, Single transverse pa...	OMIM:305400
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly, Tremor, Vent...	OMIM:615673
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand	ORPHA:2440
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Splenomegaly, Hepatomegaly, Anemia, Nephrotic syndrome	ORPHA:575
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen...	OMIM:614576
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent urinary tract infections, Lymph node hypoplasia, Neutropenia, B lymphocy...	OMIM:300755
Syngap1-Related Developmental And Epileptic Encephalopathy	Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth	ORPHA:544254
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Ogden Syndrome	Secundum atrial septal defect, Polycythemia, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:300855
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Stromme Syndrome	Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Hydrocephalus, Microphthalmia, Wid...	OMIM:243605
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, B...	OMIM:249000
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhos...	ORPHA:465508
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Postnatal ...	OMIM:608940
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polydactyly, Wide mouth	ORPHA:60040
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Broad hallux, Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, High pa...	OMIM:614105
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Tetraploidy	Radial club hand, Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Short ph...	ORPHA:3305
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal malrotation, Hallux varus,...	ORPHA:93260
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Median cleft upper lip, Abnormal morphology of the radius, Holoprosencephaly, C...	ORPHA:2165
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, 2-3 toe syndactyly, 2-3 finger s...	OMIM:217085
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Hypoplasia of penis	ORPHA:99812
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H...	ORPHA:77259
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty...	OMIM:258865
Nephronophthisis 15	Polydactyly	OMIM:614845
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova...	ORPHA:56304
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop...	ORPHA:93552
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Anemia, Decreased e...	OMIM:611881
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Bilateral microphtha...	OMIM:610828
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Bowing of the long bones, Abnormal int...	ORPHA:1318
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palat...	OMIM:217100
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microdontia, Thin upper lip vermilion, Smooth philtrum, Micropht...	ORPHA:1915
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Exaggerated cupid's bow, Short philtrum, Syndactyly, Microphthalmia,...	OMIM:614230
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Kbg Syndrome	Finger clinodactyly, Long philtrum, Macrodontia, Single transverse palmar crease, Oligodontia, Th...	ORPHA:2332
Monosomy 13Q14	Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Brachydactyl...	ORPHA:1587
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Umbilical hernia, Camptodactyly of finger, Intrauterine growth ...	ORPHA:2311
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl...	ORPHA:2754
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Opisthotonus, Anemia, T...	OMIM:608013
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Cardioacrofacial Dysplasia 1	Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac...	OMIM:619142
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation, Microdontia, ...	ORPHA:2728
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Stevenson-Carey Syndrome	Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Microphthalmia, Camptod...	OMIM:611961
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Acrootoocular Syndrome	High, narrow palate, Small hypothenar eminence, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypop...	ORPHA:3186
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Microphthalmia	ORPHA:627
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Bilateral single transverse palmar creases, Microdontia, Microphthalm...	ORPHA:3191
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Abnormally large globe, Short toe, Downturned corners of mouth, C...	OMIM:239300
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Kury-Isidor Syndrome	Growth delay, Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, ...	OMIM:619762
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Furrowed tongu...	ORPHA:464738
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Polydactyl...	ORPHA:77301
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Congenital hypoplastic anemia, Hypochrom...	ORPHA:77297
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Oligohydramnios, Single transverse palmar crease, Microphthalmia	OMIM:619053
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion, Dystonia	OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Microphthalmia, Syndromic 6	Bifid uvula, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture, Anophthalmia, Si...	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Microphthalmia	OMIM:613153
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Postaxia...	OMIM:174300
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachnodactyly, Postaxial poly...	OMIM:619721
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Epiphyseal stippling,...	OMIM:619135
Cockayne Syndrome Type 1	Abnormality of the dentition, Widely spaced primary teeth, Postnatal growth retardation, Hypoplas...	ORPHA:90321
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Microphthalmia, Lenz Type	Abnormality of the dentition, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of fing...	ORPHA:568
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Abnormal metacarpal morphology, Hypo...	ORPHA:1452
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Macular hypo...	OMIM:300960
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Overlapping toe, Single transverse palmar crease, Thin upper lip vermilion, Dee...	OMIM:613884
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Anal atresia	ORPHA:1997
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Finger syndactyly, Open mouth, Broad toe, Anal atresia, High pala...	ORPHA:93932
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma	ORPHA:654
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Genitopalatocardiac Syndrome	Downturned corners of mouth, Intrauterine growth retardation, Brachydactyly, Hydrocephalus, Posta...	ORPHA:2075
Charge Syndrome	Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Absent rad...	OMIM:214800
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Short phalanx of finge...	OMIM:302350
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Dental crowding, Branchial cyst, Finger syndactyly, Single transverse palmar crease, Thin upper l...	ORPHA:435938
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi...	ORPHA:284160
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Downturned corners of mouth, Long philtrum, Overlapping toe, Deep philtrum, Microphtha...	OMIM:618571
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Polydactyly	OMIM:245800
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Tremor, Prolon...	OMIM:615512
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Bilateral cleft palate, Thin upper lip vermilion, Bilat...	OMIM:618874
Nail-Patella Syndrome	Triceps aplasia, Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head,...	OMIM:161200
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal...	OMIM:612541
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachydactyly, S...	ORPHA:2377
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Microglossia, Oligodactyly, Abnormality of the wrist, Narrow mo...	ORPHA:1307
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Han...	ORPHA:1647
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, Microphthalmi...	OMIM:236680
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-...	OMIM:164200
Apert Syndrome	Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta...	OMIM:101200
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-...	OMIM:613573
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system	ORPHA:276280
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
ERI1-related disease	Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Intrauterine growth retardation,...	OMIM:608739
Hoxha-Aliu Syndrome	Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ...	OMIM:620662
Bohring-Opitz Syndrome	Narrow palate, Broad alveolar ridges, Short toe, Cleft upper lip, Intestinal malrotation, Overlap...	OMIM:605039
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Oligohydramnios, Narrow mouth, Arachnodactyly, Hiatus hernia, Mi...	OMIM:617729
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Talipes equinovarus, Hydroc...	OMIM:612284
Joubert Syndrome 2	Postaxial foot polydactyly, Encephalocele, Hydrocephalus, Microphthalmia, Postaxial hand polydact...	OMIM:608091
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Typhoid	Hepatomegaly, Splenomegaly, Tremor	ORPHA:99745
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Fanconi Anemia, Complementation Group L	Absent thumb, Intrauterine growth retardation, Microphthalmia, Tracheoesophageal fistula, Esophag...	OMIM:614083
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal f...	OMIM:251880
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Short foot, Holoprosencephaly, Short toe, Ascites, Hamartoma o...	OMIM:269860
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Hemiatrophy, St...	OMIM:302960
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Microphthalmia, Macroglossia, Optic nerve hypoplasia	ORPHA:370959
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Microphthalmia	OMIM:613456
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep...	ORPHA:228308
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Intrauterine growth retardation, Microphthalmia, Short stature, ...	ORPHA:2714
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloca...	ORPHA:3258
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis...	OMIM:268310
Iniencephaly	Rhizomelia, Spinal dysraphism, Holoprosencephaly, Myelomeningocele, Narrow mouth, Encephalocele, ...	ORPHA:63259
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Filippi Syndrome	Severe short stature, Finger syndactyly, Intrauterine growth retardation, Bilateral single transv...	ORPHA:3255
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Intrauterine growth retar...	ORPHA:1323
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Macroglossia, Cleft upper lip, Encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Cleft p...	OMIM:613150
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto...	ORPHA:79330
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Hypoplasia of the radius, Hyp...	OMIM:212780
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Aplasia/Hypoplasia of the tongue, In...	ORPHA:958
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Widely spaced teeth, Clinodactyly, Syndactyly	OMIM:619092
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly, Hydrocephalus	OMIM:219730
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Short stature, High palate, Syndactyly	OMIM:239710
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis	OMIM:617681
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Fryns Syndrome	Short distal phalanx of finger, Non-midline cleft of the upper lip, Long philtrum, Intestinal mal...	ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Duodenal atresia, Ascites, Intrauterine growth retardation, Increased nuchal transl...	ORPHA:1052
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Cleft upper lip, Acetabular dysplasia, Oligodontia, ...	OMIM:201180
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre...	ORPHA:63260
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Orofacial cleft, Spli...	ORPHA:1335
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,...	OMIM:268305
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Oligohydramnios, Abnormal morp...	ORPHA:2167
Lethal Acantholytic Erosive Disorder	Natal tooth, Intrauterine growth retardation, Oligohydramnios, Camptodactyly of toe, 2-3 finger s...	ORPHA:158687
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Megaloblastic anemia, ...	OMIM:277410
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce...	OMIM:614921
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Intrauterine growth retardation, 2-3 finger syndactyly, Hypoplasia of ...	OMIM:603467
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Waldenström Macroglobulinemia	Normocytic anemia, Leukemia, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hepatomegaly, Ab...	ORPHA:33226
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Long philtrum, Lymphedema, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Mi...	OMIM:152950
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Ab...	ORPHA:783
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Chylothorax, Long philtrum, Lymphedema, Thick vermilion border, Pleural eff...	ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr...	OMIM:617713
Ohdo Syndrome, X-Linked	Short thumb, Clinodactyly, Long philtrum, Widely spaced teeth, Overlapping toe, Narrow mouth, Lon...	OMIM:300895
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:91547
Frontonasal Dysplasia 2	Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Oligohydramnios, Tessier num...	OMIM:613451
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru...	ORPHA:3320
3C Syndrome	High, narrow palate, Finger syndactyly, Intestinal malrotation, Postnatal growth retardation, Abn...	ORPHA:7
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly,...	OMIM:616449
Silver-Russell Syndrome 1	Downturned corners of mouth, Intrauterine growth retardation, Clinodactyly of the 5th finger, Sho...	OMIM:180860
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Dilated cardiomyopathy, Elevated circulating hepatic transaminase co...	OMIM:615688
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Schizophrenia 1	Short stature, Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ...	ORPHA:2137
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cri-Du-Chat Syndrome	Bifid uvula, Downturned corners of mouth, Thick lower lip vermilion, Anterior open-bite malocclus...	OMIM:123450
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m...	ORPHA:306542
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Silver-Russell Syndrome 3	Small hand, Postnatal growth retardation, Oligohydramnios, Short stature, Clinodactyly of the 5th...	OMIM:616489
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, High palate, Syndactyly	OMIM:104350
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Postaxial polydactyly, Brachydactyly, Hypoplasia of ...	OMIM:617895
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Slender long bone, Dental malocclusion, Selectiv...	OMIM:234100
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Spondylo-Ocular Syndrome	Long philtrum, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ...	ORPHA:84064
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Smooth philtrum, Downturned corners of mouth, Abnormality of the palmar creases	OMIM:618652
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l...	ORPHA:2256
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf...	OMIM:620609
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Short hard palate, Spina bifi...	ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Microphthalmia	OMIM:615249
Proboscis Lateralis	Long philtrum, Anophthalmia, Orofacial cleft, Agenesis of canine, Microphthalmia, High palate, Ho...	ORPHA:141099
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Talipes equinovarus, Aplasia/Hy...	OMIM:108720
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Cardiomegaly, Abnormal conce...	ORPHA:391428
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Hypoplasia of t...	OMIM:609053
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Long philtrum, Tooth agenesis, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1252
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Long philtrum, Thick up...	ORPHA:2563
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul...	OMIM:300972
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly...	ORPHA:2905
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Finger syndactyly, Downturned corners of mouth, ...	ORPHA:2215
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Ta...	OMIM:609638
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Microphthalmia, Syndromic 9	Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh...	OMIM:601186
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbil...	ORPHA:464
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Anophthalmia, Microphthalmia, Ana...	OMIM:309800
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Short philtrum, Orofacial cleft, Everted lower lip...	ORPHA:65286
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Abnormal heart valve morphology, Hyper...	OMIM:230500
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic an...	OMIM:620565
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Branchiooculofacial Syndrome	Abnormality of the dentition, Short thumb, Cleft upper lip, Preaxial hand polydactyly, Elbow flex...	OMIM:113620
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy...	ORPHA:309854
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Toe syndactyly, Finger syndactyly, Intestinal pseudo-obstruction, Long philtrum, Intrauterine gro...	ORPHA:73246
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Postnatal growth retardation, Polydactyl...	ORPHA:531151
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Intrauterine growth ...	ORPHA:2008
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia	OMIM:615636
Retinitis Pigmentosa 89	Postaxial polydactyly, Esophageal varix	OMIM:618955
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Umbilical hernia, Thi...	ORPHA:1001
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fingertip pads, Camptodacty...	ORPHA:2920
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia	OMIM:614833
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia	OMIM:617388
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Broad hallux, Long philtrum, Preaxial hand polydactyly, Overlappin...	ORPHA:508498
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Polysplenia...	OMIM:312870
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Narrow mouth, Long fingers, Microphthalmia, High palate, Cleft palate	OMIM:156610
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly	ORPHA:1133
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Cleft upper lip, Umbilical h...	OMIM:308050
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Intrauterine...	OMIM:247200
Myhre Syndrome	Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Microphthalmia, Cone-shaped ...	OMIM:139210
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op...	ORPHA:1507
Joubert Syndrome 23	Polydactyly	OMIM:616490
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Narrow mouth, Median cleft upper lip, Aplasia/Hy...	ORPHA:1234
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Short hallux, Non-midline cleft o...	ORPHA:2710
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Dystonia, Splenomegaly, Neutropenia	OMIM:617050
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Tooth agen...	ORPHA:570
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Holoprosencephaly,...	ORPHA:818
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252930
Hartsfield Syndrome	Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Cleft upper lip, Median clef...	OMIM:615465
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Long philtrum, Postnatal growth retardation, Single transve...	OMIM:614800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Jacobsen Syndrome	Intrauterine growth retardation, Macular hypoplasia, Brachydactyly, Hydrocephalus, Microphthalmia...	OMIM:147791
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Meckel diverticulum, Intrauterine growth retardation, Microphthalmia,...	OMIM:616395
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome, Abno...	ORPHA:29073
Multiple Pterygium Syndrome, Escobar Variant	Narrow mouth, Patellar aplasia, Arachnodactyly, Talipes equinovarus, High palate, Dislocated radi...	OMIM:265000
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutr...	OMIM:249100
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Palmoplantar keratoderma...	OMIM:129400
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Esophageal atresia, Microphthalm...	OMIM:206900
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Slender finger, Hypoplasia of the iris, Intrauteri...	OMIM:251300
Trisomy 20P	Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi...	ORPHA:261318
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, J...	OMIM:607625
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Adducted thumb, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ...	ORPHA:1236
Brucellosis	Granuloma, Liver abscess, Intrarenal abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomega...	ORPHA:1304
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Finger aplasia, Lymphedema, Hand polydactyly, Syndactyly	OMIM:149000
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Glomerulopathy, Pancreatitis, Hepat...	ORPHA:2348
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Iron de...	ORPHA:100078
Warburg Micro Syndrome 3	Downturned corners of mouth, Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5t...	OMIM:614222
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Hypoplasia of the ulna, Hypoplasia of the radius, Non...	ORPHA:246
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding, Clubbing of fingers	ORPHA:335
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Unilateral microphthalmos, Anal atresia, Bilateral microphthalmos	OMIM:619318
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Pyloric stenosis, Conical tooth, Short thumb, Cleft upper lip, Postna...	OMIM:263750
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Flared metaphysis, Aplasia/Hypoplasia of the middle p...	OMIM:151050
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Microphthalmia, Talipes equinovarus, Severe postnatal growth retardation, N...	ORPHA:35173
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper ...	OMIM:603671
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Apert Syndrome	Bifid uvula, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Delayed eruption of teet...	ORPHA:87
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Dental crowding, Clinodactyly, Downturned corners of mouth, Postnatal growth...	ORPHA:96182
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Autoimmune hemo...	ORPHA:37042
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Torticollis	OMIM:617022
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hepatomegaly	OMIM:239200
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Finger syndactyly, Long philtrum, Intrauterine growth retardation, ...	ORPHA:254346
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro...	ORPHA:217346
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Ventricular septal defect, H...	OMIM:235255
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Synostosis of carpal bones, Finger syndactyly, Moderate postnatal growth re...	ORPHA:1005
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Talipes equinovarus,...	OMIM:154400
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Penile freckling, Splenomegaly	OMIM:605309
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Ventricu...	ORPHA:1655
Wilson Disease	Acute hepatic failure, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevated circulating alanine ...	OMIM:277900
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Abnormal dental enamel morphology, Abnormal rectum morphology, Anophthalmia...	ORPHA:2556
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long philtrum, Intestinal malrotation, Overlapping toe, Overlapping fingers, Exaggerated cupid's ...	OMIM:618316
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Protei...	ORPHA:342
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, P...	OMIM:223370
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Anemia, Pancreatit...	ORPHA:499009
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Leprechaunism	Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa...	ORPHA:508
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi...	ORPHA:2753
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine growth retardation, ...	ORPHA:2886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel...	OMIM:102700
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Microphthalmia,...	OMIM:263650
Treacher-Collins Syndrome	Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ...	ORPHA:861
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Sepsis In Premature Infants	Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Leukocytosis, Anemia,...	ORPHA:90051
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100080
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Umbilical hernia, Absent radius, Intestinal malrota...	OMIM:115470
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cutaneous syndactyly of toes, Cleft lip, Cleft upper lip, Cutaneous finger syndactyly, Anodontia,...	OMIM:225060
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Intrauterine growth retardation, Oligohydramnios	OMIM:615824
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Delayed eruption of teeth, Tibial bowing, Corn...	OMIM:601812
Oculopalatocerebral Syndrome	Short stature, Cleft palate, Microphthalmia	OMIM:257910
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Preaxial hand polydactyly, Microphthalmia, Partial duplication of thum...	OMIM:227646
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:259700
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil...	OMIM:616894
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Ly...	ORPHA:39812
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, High, narrow palate, Bifid uvula, Finger syndactyly, Abn...	ORPHA:2658
Fetal Akinesia Deformation Sequence 1	Narrow mouth, Hip contracture, Talipes equinovarus, Elbow ankylosis, High palate, High, narrow pa...	OMIM:208150
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormal heart mo...	ORPHA:699
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect...	OMIM:619573
Hamamy Syndrome	Dental malocclusion, Long philtrum, Down-sloping shoulders, Thin upper lip vermilion, Hypodontia,...	OMIM:611174
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Foot polydactyly, High palate, Tarsal synostosis, Accessory oral fr...	ORPHA:2750
Orofaciodigital Syndrome X	Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa...	OMIM:165590
Joubert Syndrome 39	Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Narrow mouth, Talipes equinova...	OMIM:180849
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Open mouth, Oligo...	OMIM:616580
3Mc Syndrome 3	Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Short ...	OMIM:248340
Whipple Disease	Splenomegaly, Anemia, Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis	ORPHA:3452
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Talipes equinovar...	OMIM:134780
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation, Hip dysplasia	ORPHA:494344
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Mitral valve pr...	OMIM:615873
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Portal fibrosis, Elevated circulating hepatic transaminase concentration,...	ORPHA:3260
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube...	ORPHA:268810
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Rodrigues Blindness	Short stature, Tooth malposition, Microphthalmia	OMIM:268320
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Fibular hypoplasi...	OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Microphthalmia	OMIM:616538
Fraser Syndrome 3	Short toe, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Cutaneous syndactyly, Hydrocephalus	OMIM:617667
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Postaxial polydactyly, Smoo...	OMIM:300968
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Cleft upper lip, Lymphedema, Nonimmune hydrops ...	OMIM:153400
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Impaired lymphocyte transformation with p...	OMIM:614162
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content	OMIM:619259
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
X Small Rings	Toe syndactyly, Long philtrum, Upper limb undergrowth, Oligohydramnios, Lower limb undergrowth, 2...	ORPHA:96201
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Thrombocytopenia, Ventricular septal d...	ORPHA:261250
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Warburg Micro Syndrome 2	Postnatal growth retardation, Overlapping toe, Clinodactyly of the 5th toe, Microphthalmia, Clino...	OMIM:614225
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, Postaxial polydactyly, 2-3 toe s...	OMIM:614099
Limb Body Wall Complex	Cleft lip, Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneo...	ORPHA:2369
Craniofacial Microsomia 1	Occipital encephalocele, Cleft upper lip, Genu valgum, Branchial anomaly, Partial duplication of ...	OMIM:164210
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Exaggerated startle resp...	ORPHA:79255
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Microphthalmia, Buphthalmos, Anal atresi...	OMIM:236670
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, ...	OMIM:617746
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Goldberg-Shprintzen Megacolon Syndrome	Short stature, Aganglionic megacolon, Finger syndactyly, Cleft palate	ORPHA:66629
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalocele, Exenceph...	ORPHA:2211
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, High palate, Aganglionic megacolon, Ectopic anus, ...	ORPHA:2473
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Adams-Oliver Syndrome 1	Toe syndactyly, Cleft upper lip, Encephalocele, Talipes equinovarus, Brachydactyly, Microphthalmi...	OMIM:100300
Sacral Defect With Anterior Meningocele	Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equ...	OMIM:600145
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Toe syndactyly, Finger syndactyly, Cleft upper lip, ...	ORPHA:3253
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap...	ORPHA:397715
Trichohepatoenteric Syndrome 1	Galactosuria, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Splenomegaly, ...	OMIM:222470
Kinsship Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Gingi...	OMIM:619297
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Fryns Syndrome	Joint contracture of the hand, Microphthalmia, Anal atresia, Duodenal atresia, Prominent fingerti...	OMIM:229850
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Aicardi-Goutieres Syndrome 7	Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Hemolytic anemia, Splenomegaly, Hepatic ste...	OMIM:615846
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Cutaneous syndactyly, Palmoplantar keratoderma, Cleft palate	ORPHA:2890
Bardet-Biedl Syndrome 1	High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Pos...	OMIM:209900
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Delayed eruption of teeth, Anteriorly placed...	OMIM:268400
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate, Short stature, Cleft upper lip	OMIM:615849
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology, ...	ORPHA:3224
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Radial deviation of finger, Downturned corners of mouth,...	OMIM:176270
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Postnatal growth retardation, Abnormal metacarpal morphology, Microphthalmia, Absen...	OMIM:268300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, Postaxial polydactyly...	OMIM:617527
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Long philtrum, Camptodactyly of finger, Umbilical hernia, Intrauterine growth ...	ORPHA:2990
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	High palate, Umbilical hernia, Syndactyly	OMIM:614520
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Median cleft upper lip, Ethmocephal...	OMIM:236100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Tremor	OMIM:201100
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Postnatal growth retardation, Intraut...	OMIM:192350
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Narrow mouth, Talip...	OMIM:616145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia	OMIM:253800
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Long philtrum, Umbilical hernia, Wide mouth, C...	ORPHA:1517
Warburg Micro Syndrome 4	Long philtrum, Narrow mouth, Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden...	ORPHA:100085
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Exaggerated startle response	OMIM:620327
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Severe postnatal growth retardation, Bilateral microphthalmos, Mi...	ORPHA:2399
Skin Creases, Congenital Symmetric Circumferential, 2	Carious teeth, Narrow mouth, Microdontia, 2-3 toe syndactyly, Thin upper lip vermilion, Long fing...	OMIM:616734
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Single transverse palmar crease, Hydrocephalus, Micropht...	OMIM:309801
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly	ORPHA:583
Amyloidosis, Hereditary Systemic 1	Cardiomyopathy, Tremor, Cardiomegaly, Urinary incontinence, Intention tremor	OMIM:105210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Talipes e...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Talipes e...	ORPHA:352665
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate	ORPHA:2736
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100082
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Anal stenosis, Downturned corners of mouth, Postnatal growth retard...	OMIM:620029
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Widely spaced teeth, Polydactyly, Microdontia, Fused teeth, Smooth phil...	OMIM:613610
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Thick lower lip vermilion, Single transv...	ORPHA:404448
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy...	OMIM:259720
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Open mouth, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of th...	ORPHA:457284
Micro Syndrome	Intrauterine growth retardation, Short philtrum, Delayed puberty, Microphthalmia, Short stature, ...	ORPHA:2510
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
8P11.2 Deletion Syndrome	Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal defect, Hypoplasia of penis, He...	ORPHA:251066
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Cleft palate, Brachydactyly, P...	OMIM:217980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev...	ORPHA:308552
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Renal ...	ORPHA:565612
Eisenmenger Syndrome	Bacterial endocarditis, Increased mean corpuscular volume, Brain abscess, Abnormal heart morpholo...	ORPHA:97214
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Open bite, Anodontia, Short palm, Hip dislocation, High, na...	ORPHA:3107
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Sandal gap, Long philtrum, Finger syndactyly, Camptodactyly of fing...	ORPHA:178303
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Tremor, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:667
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Hepatic failure, Chronic noninfectious ly...	ORPHA:97287
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreati...	ORPHA:97289
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Abnormality of the dentition, Thick vermilion border, Clinodactyly of the 5th finger...	OMIM:618505
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn...	OMIM:222700
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Duodenal atresia, Long philtrum, ...	ORPHA:2308
Fraser Syndrome 2	Intestinal malrotation, Oligohydramnios, Narrow mouth, Cutaneous syndactyly, Rectal atresia, Micr...	OMIM:617666
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Pericar...	ORPHA:32960
Stiff-Person Syndrome	Anemia, Opisthotonus, Exaggerated startle response	OMIM:184850
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:171
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Reticu...	ORPHA:14
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Combined Pituitary Hormone Deficiencies, Genetic Forms	Median cleft palate, Pituitary dwarfism, Abnormal digit morphology, Polydactyly, Delayed puberty,...	ORPHA:95494
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dental crowding, Long philtrum, Umbilical hernia, Increased nuchal translucency, Open mouth, Thin...	OMIM:620654
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Narrow mouth, Open mouth, Arachnodacty...	OMIM:613406
Cerebrofacioarticular Syndrome	Anal stenosis, Caudal appendage, Anteriorly placed anus, Lymphedema, Narrow mouth, Irregular dent...	ORPHA:314679
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Open bite, Bilateral single transverse palmar creases, Triphalang...	ORPHA:794
22Q11.2 Deletion Syndrome	Carious teeth, Narrow mouth, Arachnodactyly, Talipes equinovarus, Microphthalmia, Foot polydactyl...	ORPHA:567
Fontaine Progeroid Syndrome	High, narrow palate, Short distal phalanx of finger, Long philtrum, Umbilical hernia, Anteriorly ...	OMIM:612289
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries...	ORPHA:744
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Lip pit, Thin upper lip vermilion, Split h...	ORPHA:1300
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Abscess, Eos...	ORPHA:228123
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Tal...	OMIM:119500
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Robinow Syndrome	Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Mesomelic arm shor...	ORPHA:97360
Aicardi Syndrome	Cleft upper lip, Postnatal growth retardation, Hiatus hernia, Spina bifida, Microphthalmia, Proxi...	OMIM:304050
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas...	ORPHA:100093
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Fanconi Anemia, Complementation Group N	Absent thumb, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia...	OMIM:610832
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Hydrocephalus, Microphthalmia	OMIM:613001
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucou...	OMIM:157170
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Bilateral microphthalmos, Camptodactyly of finger, Intrauterine growth reta...	ORPHA:468631
Atelis Syndrome 2	Downturned corners of mouth, Clinodactyly, Diastema, Thick lower lip vermilion, Single transverse...	OMIM:620185
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Down-sloping shoulders, Proportionate short stature, Deep phi...	OMIM:227330
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Narrow mouth, Glossop...	ORPHA:2108
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Short lingual frenulum, Limited elbow movement,...	OMIM:261540
Sarcoidosis	Nephrocalcinosis, Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Leuk...	ORPHA:797
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Genu valgum, Open mouth, Everted lower lip vermilion, Mi...	ORPHA:534
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Gr...	ORPHA:1439
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Broad hallux, Branchial cyst, Clinodactyly, Downturned c...	OMIM:620186
Frontofacionasal Dysplasia	Bifid uvula, Cranium bifidum occultum, Cleft upper lip, Orofacial cleft, Microphthalmia	OMIM:229400
Gaucher Disease	Aortic valve calcification, Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnor...	ORPHA:355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
Tetraamelia Syndrome 1	Cleft upper lip, Hypoplastic pelvis, Hydrocephalus, Microphthalmia, Anal atresia, Cleft palate	OMIM:273395
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Kyphomelic Dysplasia	Disproportionate short stature, Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Du...	OMIM:211350
Doors Syndrome	Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ...	ORPHA:79500
Mosaic Trisomy 16	Short forearm, Meckel diverticulum, Short thumb, Clinodactyly, Anteriorly placed anus, Intrauteri...	ORPHA:1708
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Hamartoma of...	OMIM:615948
Kbg Syndrome	Radial deviation of finger, Long philtrum, Ulnar deviation of the 2nd finger, Macrodontia, Tented...	OMIM:148050
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Mic...	OMIM:601552
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Furrowed tongue, Intrauterine growth retardation, Microphthalmi...	OMIM:616975
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Intrauterine growth retardation, ...	ORPHA:769
Cockayne Syndrome B	Severe short stature, Carious teeth, Square pelvis bone, Dental malocclusion, Hypoplasia of the i...	OMIM:133540
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Polydactyly, Thin...	OMIM:301022
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Short hallux, Cleft maxillary alveolar r...	ORPHA:508488
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Finger syndactyly, Oral leukoplakia,...	ORPHA:2907
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Submucous cleft soft palate, Hypodontia, Cl...	ORPHA:69085
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Splenomegal...	OMIM:269700
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Ly...	ORPHA:3144
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Increased hepatic ...	OMIM:619525
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Microphthalmia, Absent radius, Short stature, Complete duplication of ...	OMIM:600901
Rothmund-Thomson Syndrome, Type 3	Severe short stature, Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydac...	OMIM:615789
Neuroocular Syndrome 1	Short uvula, Prominent fingertip pads, Downturned corners of mouth, Tibial torsion, Umbilical her...	OMIM:619539
Eec Syndrome	Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Carious teeth, Abnormal dental ename...	ORPHA:1896
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa...	ORPHA:1071
Carpenter Syndrome 2	Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ...	OMIM:614976
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Intrauterine...	ORPHA:93325
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic megacolon, Syndactyly, Postax...	OMIM:236700
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Intrauterine growth retardation, Microphthalmia, Absent radius, Short ...	OMIM:227645
Kapur-Toriello Syndrome	Intestinal malrotation, Orofacial cleft, Microphthalmia	ORPHA:2328
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Anal atresia, Rectovagi...	OMIM:107480
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha...	ORPHA:2911
Monosomy 9P	Abnormality of the dentition, Long philtrum, Abnormality of the tarsal bones, Narrow mouth, Bilat...	ORPHA:261112
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim...	OMIM:607944
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long philtrum, Open bite, Down-sloping shoulders, Deep philtrum, Brachydactyly...	ORPHA:1974
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell renal cell carc...	ORPHA:90340
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Aplasia of the epiglottis, Postaxial polydactyly, Short clavicles, Median ...	OMIM:617088
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Microphthalmia, Absent radius, Short stature, Complete duplication of ...	OMIM:227650
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Microphthalmia	OMIM:301108
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Duodenal atresia, Intrauterine growth retardation, Oligohydramnios, Polydactyly, ...	ORPHA:464306
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Abnormality of the dentition, Microphthalmia	ORPHA:1806
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Histiocytoid Cardiomyopathy	Pulmonary edema, Hydrocephalus, Congenital aphakia, Microphthalmia, Cleft palate	ORPHA:137675
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Hepatic failure, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cho...	ORPHA:99827
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Partial atrioventricular canal defect, Thrombocytopenia, Exaggerated st...	OMIM:620423
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lymphadenopathy, Abnormality of ...	ORPHA:449432
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Degcags Syndrome	Toe syndactyly, Genu valgum, Protruding tongue, Talipes equinovarus, Microphthalmia, High palate,...	OMIM:619488
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Recurrent urinary...	ORPHA:331235
Aicardi Syndrome	Small hand, Cleft upper lip, Intestinal polyposis, Hiatus hernia, Delayed puberty, Microphthalmia...	ORPHA:50
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis, Dy...	OMIM:620371
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusi...	OMIM:269500
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand...	OMIM:612109
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Kawasaki Disease	Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal defect without...	ORPHA:2331
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Splenomegaly	OMIM:612301
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Growth delay, Microphthalmia	OMIM:234050
Okamoto Syndrome	Anal stenosis, Abnormally large globe, Exaggerated median tongue furrow, Downturned corners of mo...	ORPHA:2729
Khan-Khan-Katsanis Syndrome	Clinodactyly, Intrauterine growth retardation, Tented upper lip vermilion, Postaxial polydactyly,...	OMIM:618460
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Microphthalmia, High palate, Prominent fingertip pads, Mesoaxial fo...	OMIM:612474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Intrauterine growth retardation, Thick vermilion border, Microdontia, Severe postnata...	OMIM:620005
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites	ORPHA:139411
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Smooth philtrum, Long philtrum, Syndactyly	OMIM:616430
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Monosomy 22	Finger syndactyly, Long philtrum, Open mouth, Joint swelling, Single transverse palmar crease, Th...	ORPHA:96123
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Renpenning Syndrome 1	Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac...	OMIM:309500
Microphthalmia/Coloboma 9	Long philtrum, Microphthalmia	OMIM:615145
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Splenomegaly, Cardiom...	OMIM:256040
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph...	OMIM:617913
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Ascites, Intrauterine growth retardation, Orofacial cleft, Sho...	ORPHA:1556
Leptospirosis	Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ...	ORPHA:509
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen...	OMIM:608594
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Congenital hip dislocation, Macroglossia, Toe syndactyly, Broad thumb, Finge...	ORPHA:373
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Umbilical hernia...	OMIM:618164
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Toe syndactyly, Xerostomia, Finger syndactyly, Clinoda...	ORPHA:2363
Thoracoabdominal Syndrome	Cleft palate, Anencephaly, Hydrocephalus, Cleft upper lip	OMIM:313850
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodac...	OMIM:610168
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced teeth, Intrauterine ...	ORPHA:268261
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev...	ORPHA:365
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, High palate, Syndactyly, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, High palate, Syndactyly, A...	ORPHA:353277
Behçet Disease	Renal insufficiency, Splenomegaly, Glomerulopathy, Abnormal myocardium morphology, Pancreatitis, ...	ORPHA:117
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Elevated circulating hepatic transaminase concentration, L...	ORPHA:99826
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopa...	OMIM:181000
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly...	OMIM:619381
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Microphthalmia/Coloboma 12	Optic nerve aplasia, Growth delay, Microphthalmia	OMIM:120200
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Kenny-Caffey Syndrome, Type 2	Severe short stature, Thickened cortex of long bones, Abnormality of the medullary cavity of the ...	OMIM:127000
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Delayed eruption of teeth, Anteriorly place...	ORPHA:798
Trichothiodystrophy 1, Photosensitive	Short stature, Triangular mouth, Intestinal obstruction, Microphthalmia	OMIM:601675
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, F...	OMIM:216340
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Townes-Brocks Syndrome	Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Anteriorly placed anus,...	ORPHA:857
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, Intrauterine growth retardation, Hand polydactyly, Agenesis of maxi...	OMIM:210900
Neurocardiofaciodigital Syndrome	Polydactyly, Short stature, High palate, Thin vermilion border, Syndactyly	OMIM:619869
Semilobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd...	ORPHA:93924
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile...	ORPHA:3243
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Overlapping toe, High palate, Anal atresia, Short foot, Slender fi...	ORPHA:480880
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Abnormal cardi...	ORPHA:97297
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Papillorenal Syndrome	Short stature, Edema, Microphthalmia	OMIM:120330
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine...	OMIM:619534
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Phthisis...	OMIM:619727
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl...	ORPHA:3427
Trichothiodystrophy	High, narrow palate, Carious teeth, Bilateral microphthalmos, Umbilical hernia, Intrauterine grow...	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
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Umbilical hernia, Long philtrum, Advanced eruption of teeth, Orofac...	ORPHA:1519
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Short lingual frenulum, High palate, Unila...	ORPHA:1521
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Oligodontia, Hypoplasia of the fovea, Hypodontia, Micro...	OMIM:308300
Loeys-Dietz Syndrome 1	Bifid uvula, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Eosinophilic infiltratio...	OMIM:609192
Choanal Atresia	Polydactyly	ORPHA:137914
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepato...	ORPHA:99843
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Adult Syndrome	Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Abnormal dental morphology, Spli...	ORPHA:978
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Polydactyly, Orofacial cleft, Growth delay, Short femur	ORPHA:17
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Microphthalmia, High palate, Hypoplasia of teeth, Cleft palate	OMIM:603457
Pierson Syndrome	Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ...	OMIM:609049
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Palmoplantar keratoderma, Finger syndactyly, ...	ORPHA:2908
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Wide mouth	OMIM:612731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormal heart morphology, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect...	ORPHA:438213
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
African Trypanosomiasis	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Tremor, Hepatomegaly, Lymphadenopathy, Myo...	ORPHA:3385
Williams Syndrome	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial...	ORPHA:904
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Elevated circulating hepatic transaminase concentration, Chroni...	ORPHA:100079
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Short hard palate, Finger syndactyly, Genu varum	ORPHA:1969
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Blepharophimosis, Ptosis, And Epicanthus Inversus	High palate, Microphthalmia	OMIM:110100
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ...	ORPHA:556
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Tetralogy of Fallot, Renal insufficiency, Splenomegaly...	OMIM:188400
Legius Syndrome	Short stature, Clinodactyly of the 5th finger, Polydactyly	ORPHA:137605
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Postnata...	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	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Igg4-Related Ophthalmic Disease	Eosinophilia, Pancreatitis, Lymphadenopathy, Abnormality of the kidney, Cholangitis, Retroperiton...	ORPHA:449563
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Osteoporosis-Pseudoglioma Syndrome	Tibial bowing, Phthisis bulbi, Metaphyseal widening, Microphthalmia, Short stature	OMIM:259770
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Long philtrum, Jejunal atresia, Holoprosencephaly, Syndactyly	OMIM:618820
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Microphthalmia, Syndacty...	ORPHA:261537
Cherubism	Submandibular lymph node enlargement, Marcus Gunn pupil	OMIM:118400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the retina, Hydrocephalus, Everted lower lip vermilion, Microphthalmia, Buphthalmos	OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Microphthalmia	OMIM:300952
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Dental crowding, F...	ORPHA:110
Scalp-Ear-Nipple Syndrome	Bifid uvula, Broad thumb, Finger syndactyly, Agenesis of permanent teeth, Clinodactyly of the 5th...	OMIM:181270
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Cockayne Syndrome	Severe short stature, Carious teeth, Abnormal epiphysis morphology, Dental malocclusion, Postnata...	ORPHA:191
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Polyhydramnios, Clinodactyly of the 5...	OMIM:620025
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Alstrom Syndrome	Short stature, Abnormality of the dentition, Gingivitis, Polydactyly	OMIM:203800
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:619325
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Everted lower lip vermilion, Microphthalmia, Syndacty...	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
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer...	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, Dystonia, Exaggerated startle response, Laryngeal dystonia	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, Buphthalmos, Microphthalmia	OMIM:221900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Sandal gap, Long philtrum, Umbilical hernia, Thin upper lip vermil...	OMIM:620330
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Pancreatic adenoca...	ORPHA:99889
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland mor...	OMIM:154500
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Multiple Endocrine Neoplasia Type 2	Elevated urinary norepinephrine level, Cervical lymphadenopathy, Elevated urinary vanillylmandeli...	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	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Microphthalmia, Syndacty...	ORPHA:261552
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Carious teeth, Chronic gastritis, Cone-shaped epiphyses of the phalanges of t...	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	Lymphadenitis, Splenomegaly, Hepatomegaly, 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	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ve...	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	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced...	OMIM:235730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hydrocephalus, Microphthalmia	OMIM:175780
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Norrie Disease	Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of the lens, Microphthalmia, Thin ver...	ORPHA:649
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, 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	Life Stage
Lymph node - MPATH pathological entity term histiocytic sarcoma	Rgl1^em1(IMPC)Mbp	HET	Early adult
Spleen - MPATH pathological entity term histiocytic sarcoma	Rgl1^em1(IMPC)Mbp	HET	Early adult
Liver - MPATH pathological process term hypoplasia	Rgl1^em1(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.

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

MGI Allele	Allele Type	Produced
Rgl1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rgl1^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Rgl1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rgl1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Rgl1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rgl1^{tm41618(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rgl1 MGI:107484

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

Human diseases caused by Rgl1 mutations

Histopathology

IMPC related publications

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