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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
enlarged spleen	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
increased startle reflex	Rgl1^em1(IMPC)Mbp	HET	Early adult	2.22×10^-07
enlarged kidney	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased mean corpuscular volume	Rgl1^em1(IMPC)Mbp	HET	Early adult	6.49×10^-05
preweaning lethality, complete penetrance	Rgl1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased heart weight	Rgl1^em1(IMPC)Mbp	HET	Early adult	1.28×10^-06
enlarged lymph nodes	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal hindbrain development	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal midbrain development	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal lymph node morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal liver morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
edema	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged heart	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
polydactyly	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Rgl1^em1(IMPC)Mbp	HET	E15.5	0.00
syndactyly	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Rgl1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal limb morphology	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal embryo turning	Rgl1^em1(IMPC)Mbp	HOM	E9.5	0.00
decreased prepulse inhibition	Rgl1^em1(IMPC)Mbp	HET	Early adult	5.09×10^-07
increased neutrophil cell number	Rgl1^em1(IMPC)Mbp	HET	Early adult	3.25×10^-06
anophthalmia	Rgl1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal neural tube closure	Rgl1^em1(IMPC)Mbp	HOM	E9.5	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.

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

57 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 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 (1641 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	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef...	OMIM:613885
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hydrolethalus	Anophthalmia, Micromelia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate...	ORPHA:2189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth...	OMIM:616570
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ...	ORPHA:1104
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/...	ORPHA:2117
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia	ORPHA:141333
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Ethanolaminosis	Cardiomegaly	OMIM:227150
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p...	ORPHA:2935
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Mmep Syndrome	Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb, Microphthalmia	ORPHA:3434
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Dystonia, Hepatomegaly	ORPHA:139406
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Short stature, Abnormality of the dentition, Abno...	ORPHA:3268
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ...	OMIM:611134
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Trisomy 1Q	Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial h...	ORPHA:261344
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Short stature, Shoulder flexion contracture, Rocker bottom foot, Ca...	OMIM:619110
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Frontonasal Dysplasia 1	Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypop...	OMIM:136760
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Solitary Median Maxillary Central Incisor	Anophthalmia, Short stature, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, ...	OMIM:147250
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand...	ORPHA:3378
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Oligohydramnios	OMIM:615397
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus...	ORPHA:163966
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft	ORPHA:324416
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Gordon Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Cleft palate, High palate, Clinodactyl...	ORPHA:376
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ...	OMIM:300863
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Leukopenia, Hypertrophic cardiomyopath...	OMIM:617303
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil...	ORPHA:66625
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Maternal Hyperthermia-Induced Birth Defects	Short stature, Cleft palate, Clinodactyly of the 5th finger, Intrauterine growth retardation, Apl...	ORPHA:2216
Acalvaria	Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly	ORPHA:945
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Smooth philtrum	OMIM:602501
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postnatal growth reta...	OMIM:605627
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:610023
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pericardia...	ORPHA:464329
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy...	OMIM:225280
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short stature	ORPHA:238446
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ...	OMIM:607361
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalu...	ORPHA:3412
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,...	OMIM:614120
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor	OMIM:610539
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat...	OMIM:252100
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p...	OMIM:614815
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Micro...	ORPHA:261272
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Tyrosinemia, Type I	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenome...	OMIM:276700
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly...	ORPHA:2839
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Short thum...	OMIM:600325
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Monosomy 18P	Short stature, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtr...	ORPHA:1598
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Holopro...	ORPHA:77298
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, High palate, Narrow mouth, Microphthalmia	ORPHA:2528
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Thrombocytopenia, Choreoathetosis, Car...	ORPHA:79312
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous ...	OMIM:600384
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Triploidy	Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Hydrocephalus, ...	ORPHA:3376
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Widely-spaced maxillary central incisors, Parti...	ORPHA:363417
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Pierpont Syndrome	Short stature, Short toe, Broad palm, Short foot, Broad philtrum, Deep palmar crease, Thin vermil...	OMIM:602342
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the kid...	ORPHA:54251
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Asc...	OMIM:602361
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Polyhydramnios, Narrow mouth, Microphthalmia, Anal atresia	ORPHA:3469
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft p...	ORPHA:85284
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Preaxial...	ORPHA:564
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl...	OMIM:119580
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Pierpont Syndrome	Thin upper lip vermilion, Short toe, Broad philtrum, Deep palmar crease, Thin vermilion border, W...	ORPHA:487825
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly,...	OMIM:610829
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:258860
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor...	ORPHA:411986
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Cleft pala...	OMIM:251230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Charlie M Syndrome	Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio...	ORPHA:1406
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Non...	ORPHA:1908
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda...	OMIM:614091
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndacty...	ORPHA:166024
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Walker-Warburg Syndrome	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microp...	ORPHA:899
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palat...	OMIM:607597
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, Microphthalmia,...	ORPHA:1777
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac...	OMIM:169550
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o...	ORPHA:3265
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Median cleft lip, Short stature, Micromelia, Postaxial h...	OMIM:241800
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormality of the dentition, Microphthalmia, Split hand, Abnormal pel...	OMIM:157900
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Microph...	OMIM:617244
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Curry-Jones Syndrome	Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx...	OMIM:601707
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Cofs Syndrome	Short stature, Camptodactyly of finger, Everted lower lip vermilion, Microphthalmia, Intrauterine...	ORPHA:1466
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Short stature, Cleft upper lip,...	OMIM:612530
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dyst...	OMIM:610333
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Growth delay	OMIM:614082
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Deep ph...	ORPHA:1825
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Short stature, Single transverse palmar crease, Bifid di...	ORPHA:370010
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Gaucher Disease Type 2	Splenomegaly, Dystonia, Hepatomegaly	ORPHA:77260
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Monosomy 5P	Finger syndactyly, Short stature, Small hand, High palate, Intrauterine growth retardation	ORPHA:281
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho...	ORPHA:2251
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Par...	OMIM:617926
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ...	ORPHA:231140
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle...	OMIM:614424
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus, Abnormal palate morphology	ORPHA:251046
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:608540
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulum, Cleft upper...	OMIM:277170
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her...	ORPHA:2538
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place...	OMIM:305600
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Cat-Eye Syndrome	Short stature, Hip dysplasia, Microphthalmia, Anal atresia, Intrauterine growth retardation	ORPHA:195
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Postnatal growth retardation, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty...	ORPHA:397590
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi...	OMIM:235200
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex...	OMIM:618280
H Syndrome	Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, En...	ORPHA:168569
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Downturned corners of mouth, S...	ORPHA:93267
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun...	OMIM:613179
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis	OMIM:602390
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Edema, Polyhydramnios, Cleft...	OMIM:616038
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Seckel Syndrome 2	Short stature, Microdontia, Growth delay, Clinodactyly of the 5th finger, Microphthalmia, Microgl...	OMIM:606744
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Short stature, Carious teeth, Talon cusp, Denta...	OMIM:613684
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Babesiosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Hydrocephalus, Short foot, Hand polydactyly,...	ORPHA:250989
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,...	OMIM:617102
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Polyhydramnios, Symphalangism affecting the phalanges of the hand, Duode...	ORPHA:2547
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Joubert Syndrome 10	Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Hepatomegaly	ORPHA:2204
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal...	OMIM:619339
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia	ORPHA:69077
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu...	ORPHA:59315
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Short stature, Single transverse palmar crease, Intestinal ...	OMIM:614701
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long philtrum, Micropht...	ORPHA:1438
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Mosaic Trisomy 1	Single transverse palmar crease, Polyhydramnios, Orofacial cleft, Finger clinodactyly, Absent dis...	ORPHA:1692
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C...	ORPHA:391474
Holoprosencephaly	Encephalocele, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, ...	ORPHA:2162
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent...	ORPHA:974
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous synd...	OMIM:272440
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Intrauterine growth r...	ORPHA:228390
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:3162
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ...	OMIM:614219
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Nanophthalmos	Microphthalmia	ORPHA:35612
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Schisis Association	Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un...	ORPHA:63862
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Hydrocephalus	OMIM:613155
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Septooptic Dysplasia	Optic disc hypoplasia, Short stature, Optic nerve hypoplasia, Polydactyly, Short finger	OMIM:182230
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop...	OMIM:620210
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u...	ORPHA:163649
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab...	ORPHA:85450
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Microphthalmia, Syndromic 5	Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia	OMIM:610125
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Ring Chromosome 21 Syndrome	Syndactyly, Short stature, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Bardet-Biedl Syndrome 16	Polydactyly, Short stature	OMIM:615993
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p...	ORPHA:90322
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Lymphedema, Triangular mouth, Flattened epiphysis, Genu val...	OMIM:607131
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Hydrocephalus, Cleft palate, Halberd-s...	ORPHA:2635
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N...	OMIM:232200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq...	ORPHA:1101
Sialidosis Type 2	Hepatomegaly, Tremor, Splenomegaly, Nephropathy, Ascites	ORPHA:87876
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Polyhydramnios, Preaxial polydactyly, Tibial bowing,...	OMIM:612651
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Short stature, Postaxial polydactyly, Tapered finger, ...	OMIM:613792
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Thin vermilion border, Narrow mouth, Microphthalmia	OMIM:600118
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Abnormality of the den...	ORPHA:2994
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Split hand, Oligohydramnios, Cleft palate, Intraute...	ORPHA:2145
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short stature, Short foot, ...	ORPHA:264200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, L...	ORPHA:47612
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Short stature, Single transverse palmar crease, Cam...	ORPHA:915
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate...	ORPHA:1856
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Dystonia, Anemia, Choreoathetosis, Renal tubular dysfunction, ...	ORPHA:289916
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht...	OMIM:619694
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, High, narrow palate, Increased nuchal translucency, Cl...	OMIM:618494
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:97290
Trisomy 18	Holoprosencephaly, Bilateral single transverse palmar creases, Short stature, Spina bifida, Esoph...	ORPHA:3380
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D...	OMIM:101600
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Lymphedema, Growth delay, Narrow mouth, Intestinal lymphangiecta...	OMIM:616006
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ...	ORPHA:2475
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Intrauterine growth retardation, High palate, Camptodactyly,...	OMIM:618804
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs...	ORPHA:88630
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Short stature, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar cr...	OMIM:619451
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Edema, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyl...	ORPHA:93400
Hypomelanosis Of Ito	Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati...	OMIM:300337
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Sq...	OMIM:616300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Short stature, Abnormality of the dentition, Carious teeth, Sma...	ORPHA:1786
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hi...	OMIM:610758
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ...	ORPHA:3098
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Po...	OMIM:264480
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Pallister-Hall Syndrome	Anteriorly placed anus, Holoprosencephaly, Distal shortening of limbs, Syndactyly, Mesoaxial foot...	OMIM:146510
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Clef...	OMIM:614078
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Micr...	OMIM:617883
Achondrogenesis, Type Ii	Broad long bones, Edema, Abnormally large globe, Short tubular bones of the hand, Polyhydramnios,...	OMIM:200610
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno...	ORPHA:540
Microphthalmia, Syndromic 13	Microphthalmia, Short stature, Widely-spaced incisors	OMIM:300915
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ...	ORPHA:79259
Nanophthalmos 4	Microphthalmia	OMIM:615972
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the denti...	ORPHA:1794
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus,...	ORPHA:2166
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod...	ORPHA:3103
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c...	OMIM:615895
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert...	OMIM:619736
Cohen Syndrome	High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda...	ORPHA:193
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Elbow flexion contractu...	OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Short stature, Long philtrum	OMIM:300887
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia...	OMIM:219000
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
2Q31.1 Microdeletion Syndrome	Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o...	ORPHA:251014
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Tremor, Splenom...	OMIM:214500
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Athetosis, Nephrotic syndrome, Ascites	ORPHA:834
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis...	ORPHA:90652
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Meta...	OMIM:224400
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ...	OMIM:257850
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneous ...	OMIM:236500
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio...	ORPHA:99776
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De...	OMIM:616362
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Short stature	ORPHA:1514
Scrub Typhus	Renal insufficiency, Tremor, Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th...	ORPHA:290
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Short stature, Abnormality of the hand, Bilateral microphthalmos, Downturned corners ...	ORPHA:369891
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Abnormality of the li...	ORPHA:2169
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph...	ORPHA:85166
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim...	OMIM:607323
Marden-Walker Syndrome	Arachnodactyly, Postnatal growth retardation, High, narrow palate, Narrow mouth, Pyloric stenosis...	OMIM:248700
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Short stature, Polyhydramnios, Cleft upper lip, Abnormal...	ORPHA:138
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short stature, Flat c...	OMIM:147891
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Alg9-Cdg	Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, U...	ORPHA:79328
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Summitt Syndrome	Syndactyly	OMIM:272350
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele, Cleft palate	ORPHA:66637
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation...	OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Aase-Smith Syndrome I	Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate	ORPHA:1681
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas...	ORPHA:116
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph...	OMIM:184705
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa...	OMIM:608670
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S...	OMIM:311200
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Fraser Syndrome	Encephalocele, Finger syndactyly, Anal stenosis, Anophthalmia, Toe syndactyly, Dental crowding, A...	ORPHA:2052
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b...	OMIM:272950
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy...	ORPHA:3392
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar...	OMIM:109400
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate, Short distal phalanx of finger	OMIM:601355
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature...	OMIM:613091
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, In...	OMIM:612562
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis	ORPHA:2470
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High...	OMIM:618142
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites	OMIM:253250
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic an...	ORPHA:251038
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Polyhydramnios, Cleft lip, High, narrow palate, Thick lower lip vermilio...	OMIM:616920
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, High, narrow palate, Supernumerary tooth, Small hand, Oligodont...	ORPHA:1787
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal pha...	OMIM:612938
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia involvi...	ORPHA:3301
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Hi...	ORPHA:79321
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Growth delay, Microphthalmia, Intrauterine growth re...	OMIM:610756
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Edema, Cleft palate, Upper limb asymmetry, Umbilical hernia, Long philtrum, Microp...	ORPHA:2505
Alkuraya-Kucinskas Syndrome	Overlapping toe, Edema, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly, Pleural effusi...	OMIM:617822
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, ...	ORPHA:2788
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Abnormally larg...	OMIM:210600
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Cleft palate, Intrauterine growth retardation, Anal atresia	OMIM:220210
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Mend Syndrome	Overlapping toe, Broad hallux, Short stature, Asymmetry of the mouth, Long fingers, Hydrocephalus...	ORPHA:401973
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Abnormal dental morph...	ORPHA:2092
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Temtamy Syndrome	Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinovarus, Long p...	OMIM:218340
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ...	OMIM:618950
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Preaxial polydactyly, Preaxia...	OMIM:603671
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Transient neutropenia, Aplastic a...	ORPHA:811
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short stature, Symphalangism affecting the phalanges of the han...	ORPHA:710
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda...	OMIM:620098
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Martsolf Syndrome 1	Short metacarpal, Short stature, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striat...	OMIM:212720
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Deep philtrum, Large hands, Talipes equin...	ORPHA:3447
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Polyhydramnios, Calcaneovalgus deformity, Finger syndactyly, Spina bifid...	OMIM:256520
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cleft palate, ...	ORPHA:1752
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le...	ORPHA:83313
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Hig...	ORPHA:3472
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, High palate, Short phi...	OMIM:614105
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Postnatal growth retardation, Small hand, Short foot, Thin vermilion bo...	OMIM:241410
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ly...	ORPHA:101096
Joubert Syndrome 37	Microphthalmia, Short stature, High palate, Postaxial polydactyly	OMIM:619185
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Short stature, Cleft upper lip, Postnatal growth retardation, Duplicati...	OMIM:243310
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplasti...	ORPHA:1865
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly	OMIM:615633
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad...	OMIM:305450
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Non-midline cleft lip,...	ORPHA:2549
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Frontofacionasal Dysplasia	Encephalocele, Short stature, Non-midline cleft lip, Cleft palate, Microphthalmia	ORPHA:1791
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion	OMIM:613576
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail...	OMIM:269250
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyl...	OMIM:249000
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans...	OMIM:300280
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Alobar holo...	OMIM:610828
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Foot polydactyly, Sho...	ORPHA:268249
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea...	OMIM:305400
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy	ORPHA:654
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy...	ORPHA:465508
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact...	OMIM:243605
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Tetraploidy	Radial club hand, Cleft palate, Short philtrum, Intrauterine growth retardation, Aplasia/Hypoplas...	ORPHA:3305
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent...	OMIM:258865
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence...	ORPHA:2165
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Hand polydactyly, Foot polydactyly	ORPHA:60040
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Hydrocephalus, Esophageal varix, Growth delay, Hip dysplasia, Inflammation...	OMIM:614576
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Tremor, Splenomegaly, Leu...	OMIM:615673
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Nephronophthisis 15	Polydactyly	OMIM:614845
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth,...	ORPHA:2728
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Hamartoma of tongue, Central Y-shaped metacarpa...	ORPHA:2754
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,...	OMIM:614230
Ogden Syndrome	Global glomerulosclerosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricul...	OMIM:300855
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Thrombocytopen...	OMIM:603553
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Mixed Connective Tissue Disease	Hepatomegaly, Hemolytic anemia, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Fetal Alcohol Syndrome	Thin upper lip vermilion, Short stature, Non-midline cleft lip, Cleft palate, Microdontia, Microp...	ORPHA:1915
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Holoprosencephaly, Clinodactyl...	ORPHA:1587
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal...	OMIM:300755
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Short stature, Camptodactyly of finger, Meningocele, Cleft palate, Long philtr...	ORPHA:2311
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuati...	OMIM:610377
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Nance-Horan Syndrome	Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Kbg Syndrome	Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Short stature, Cleft pala...	ORPHA:2332
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microdontia, Microphthalmia, Synostosis of carpal bones, Bilateral single transver...	ORPHA:3191
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Stevenson-Carey Syndrome	Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Camptodactyly, M...	OMIM:611961
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum...	ORPHA:3186
Campomelia, Cumming Type	Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Clubbing of toes, Cleft palate...	ORPHA:1318
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly	OMIM:617681
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Dystonia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, G...	OMIM:619762
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Atelosteogenesis Type Ii	Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha...	ORPHA:56304
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Edema, Short stature, Cleft lip, ...	OMIM:618348
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Short stature, Cleft soft palate, Gingival overgrowth, Mesomelia, U...	OMIM:616331
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce...	ORPHA:77301
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo...	OMIM:239300
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, ...	ORPHA:464738
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Acute leukemia, Lymphadenopathy	ORPHA:99812
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy, Anemia	ORPHA:575
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Postnatal growth retardation, Ulnar bowing, Sho...	OMIM:619135
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate, Single transverse palmar crease, Oligohydramnios	OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus	OMIM:613153
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Deep philtrum, Hip di...	OMIM:613884
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Short stature, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mou...	OMIM:618571
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Cardiomyopathy	OMIM:619046
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Finger syndactyly, Sh...	ORPHA:93932
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition...	ORPHA:284160
Cockayne Syndrome Type 1	Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Postnatal growth r...	ORPHA:90321
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Hand monodactyly, Holoprosencephal...	OMIM:214800
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthotonus, Asc...	OMIM:608013
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,...	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ...	ORPHA:1452
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly o...	OMIM:619721
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Polyhydramnios, Preaxial hand polydactyly, Non-midlin...	ORPHA:887
Laurence-Moon Syndrome	Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Non-midline cleft lip, Hydrocephalus, Cleft palate, Downturned corner...	ORPHA:2075
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Hypospadias, Pure red cell aplasia, Renal agen...	ORPHA:124
Mend Syndrome	Overlapping toe, Broad hallux, Short stature, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Po...	OMIM:300960
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, Tarsal synostosis, N...	ORPHA:1307
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Hydrolethalus Syndrome 1	Median cleft lip, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicat...	OMIM:236680
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Short stature, Spina bifida, Cleft upper lip, Triceps a...	OMIM:161200
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single transverse p...	ORPHA:435938
Laurence-Moon Syndrome	Finger syndactyly, Short stature, Bilateral single transverse palmar creases, Hand polydactyly, B...	ORPHA:2377
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Bohring-Opitz Syndrome	Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal...	OMIM:605039
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,...	OMIM:612284
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Dystonia, Fetal ascites, Bone-marrow foam cells, Sp...	OMIM:257220
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ...	OMIM:614083
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Pre...	OMIM:164200
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Postnatal growth retardation, Epiphysea...	OMIM:302960
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy...	ORPHA:63259
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Narrow palate, Abnormal hip bone morph...	ORPHA:1323
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Galloway-Mowat Syndrome 3	Arachnodactyly, Short stature, Edema, Hiatus hernia, Narrow mouth, Hip dislocation, High palate, ...	OMIM:617729
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus	OMIM:217100
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Growth delay, Thin ve...	ORPHA:3255
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Hamar...	OMIM:269860
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth...	OMIM:613150
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Microphthalmia	ORPHA:370959
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing...	ORPHA:84
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Hypoplasia o...	OMIM:212780
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto...	ORPHA:77297
Joubert Syndrome 2	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, High palate...	OMIM:608091
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Short stature, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia	ORPHA:1997
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp...	OMIM:274000
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Typhoid	Tremor, Splenomegaly, Hepatomegaly	ORPHA:99745
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Oculo-Palato-Cerebral Syndrome	Short stature, High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia, Intraut...	ORPHA:2714
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Polyhydramnios, Postaxial polydactyly	OMIM:219730
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth	OMIM:619092
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Poly...	ORPHA:2059
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral b...	OMIM:615503
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Short stature, Stomach cancer, Polyhydramnios, Increased nuchal translucenc...	ORPHA:1052
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern...	ORPHA:63260
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab...	ORPHA:2167
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Micropht...	OMIM:201180
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi...	OMIM:152950
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le...	OMIM:617713
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne...	OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat...	ORPHA:783
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long ...	ORPHA:2526
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
3C Syndrome	Finger syndactyly, Short stature, Intestinal malrotation, Postnatal growth retardation, High, nar...	ORPHA:7
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Fanconi Anemia, Complementation Group F	Short stature, Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger sy...	OMIM:603467
Pentalogy Of Cantrell	Encephalocele, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Hydrocephalus, Cleft...	ORPHA:1335
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Microdontia, Hiatus hernia, Short thumb, Hip dyspla...	OMIM:300895
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Dystonia, Left ventricular ...	ORPHA:79330
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym...	ORPHA:1333
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu...	OMIM:616449
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Unilateral microphthalmos, Bilateral cleft lip and palat...	OMIM:618874
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis	OMIM:226700
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, High palate, Cubitus valgus	OMIM:104350
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Schizophrenia 1	Syndactyly, Short stature, Short proximal phalanx of the 4th toe	OMIM:181510
Silver-Russell Syndrome 1	Syndactyly, Short distal phalanx of the 5th finger, Downturned corners of mouth, Clinodactyly of ...	OMIM:180860
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Thick lower l...	OMIM:123450
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Narrow mouth, Microphthalmia, Mild short stature	OMIM:614833
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Silver-Russell Syndrome 3	Syndactyly, Short stature, Postnatal growth retardation, Small hand, Clinodactyly of the 5th fing...	OMIM:616489
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Abnormality of the hand, Spina bifida, Proportionate short...	OMIM:234100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Polyhydramnios, Aplasia/Hypoplasia of the fibula, Shor...	ORPHA:2256
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short stature, Thin v...	ORPHA:85194
Wilson Disease	Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Aminoaciduria, Limb dystoni...	OMIM:277900
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Holoprose...	ORPHA:141099
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Hsd10 Disease, Infantile Type	Cardiomegaly, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy, Abnormal concentration of a...	ORPHA:391428
Cerebrocostomandibular Syndrome	Hydranencephaly, Short stature, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glosso...	ORPHA:1393
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Micro...	OMIM:609053
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation	OMIM:601163
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p...	OMIM:617895
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
3Q29 Microdeletion Syndrome	Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, High palate, Shor...	ORPHA:65286
Momo Syndrome	Delayed eruption of teeth, Short stature, Bilateral microphthalmos, Thick lower lip vermilion, De...	ORPHA:2563
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten...	OMIM:615688
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Long palm, Camptodactyly of finger, Tape...	ORPHA:2215
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malr...	OMIM:113620
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Atelosteogenesis, Type I	Polyhydramnios, Short metatarsal, Tibial bowing, Encephalocele, Short metacarpal, Radial bowing, ...	OMIM:108720
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ...	OMIM:601186
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Int...	ORPHA:73246
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Splenomegaly, Renal c...	OMIM:312870
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Dental...	ORPHA:2920
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion,...	ORPHA:167
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla...	ORPHA:531151
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Hematuria,...	ORPHA:91547
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Frontonasal Dysplasia 2	Encephalocele, Conical tooth, Widely spaced teeth, Microphthalmia, Intrauterine growth retardatio...	OMIM:613451
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card...	OMIM:230500
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda...	ORPHA:1507
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split...	ORPHA:2008
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	OMIM:156610
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hyp...	ORPHA:508498
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Methylmalonic aciduria, Increased mean corpuscular volume, Dystonia, Homocy...	OMIM:277410
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Hartsfield Syndrome	Syndactyly, Median cleft lip, Cleft upper lip, Alobar holoprosencephaly, Cleft palate, Lobar holo...	OMIM:615465
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Polyhydramn...	OMIM:247200
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Joubert Syndrome 23	Polydactyly	OMIM:616490
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Short stature, Pericardial effusion, Cleft lip, Short toe...	OMIM:139210
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous synda...	OMIM:129400
Aredyld Syndrome	Splenomegaly, Abnormality of the ureter, Hepatomegaly	ORPHA:1133
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Galloway-Mowat Syndrome 1	Short stature, Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Talipes equinovaru...	OMIM:251300
Trichothiodystrophy 3, Photosensitive	Natal tooth, Short stature, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel div...	OMIM:616395
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Jacobsen Syndrome	Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Macular hypoplasia, Holoprosenc...	OMIM:147791
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Polyhydramnios, Holoprosencephaly, Advanced eruption of teeth, Finge...	ORPHA:818
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radia...	OMIM:265000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,...	OMIM:614800
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Pyloric stenos...	ORPHA:1001
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C...	ORPHA:306542
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Polyhydramnios	OMIM:263630
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Preaxial ...	ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb	OMIM:614643
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly	OMIM:617388
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni...	OMIM:249100
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252930
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr...	ORPHA:2348
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cleft palate, Talipes...	ORPHA:1512
Glycogen Storage Disease Ii	Splenomegaly, Cardiomegaly, Urinary incontinence, Hepatomegaly	OMIM:232300
Hermansky-Pudlak Syndrome 10	Splenomegaly, Dystonia, Neutropenia, Hepatomegaly	OMIM:617050
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly	OMIM:149000
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Anal atresia	OMIM:619318
Warburg Micro Syndrome 3	Postnatal growth retardation, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th...	OMIM:614222
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S...	OMIM:263750
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue h...	OMIM:607625
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Volvulus, Gingival bleeding	ORPHA:335
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s...	ORPHA:35173
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl...	ORPHA:246
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Postnatal growth retardation, High...	ORPHA:96182
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasia/Hypoplasia of the mid...	OMIM:151050
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Lung abscess, Glomerulonephritis, Hypersplenism, Splen...	ORPHA:1304
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Wide mouth, Growth delay, Thin ver...	ORPHA:217346
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio...	ORPHA:508
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi...	ORPHA:87
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Abnormality of the el...	ORPHA:1005
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Pallister-Hall Syndrome	Holoprosencephaly, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Accessory or...	ORPHA:672
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Cleft palate, Deep palmar crease, Thin vermilion borde...	ORPHA:254346
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Renal tubular ...	ORPHA:79240
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Short stature, Single transverse palmar crease, Carious te...	OMIM:223370
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat...	OMIM:618316
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia	OMIM:239200
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni...	ORPHA:268810
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Age...	OMIM:616894
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental...	ORPHA:2750
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Fanconi Anemia, Complementation Group D2	Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli...	OMIM:227646
Oculopalatocerebral Syndrome	Microphthalmia, Short stature, Cleft palate	OMIM:257910
Hamamy Syndrome	Long toe, Syndactyly, Thin upper lip vermilion, Down-sloping shoulders, Tapered finger, Long fing...	OMIM:611174
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Aplastic clavicle, Ab...	ORPHA:2658
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,...	ORPHA:333
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Hepatomegaly	OMIM:612852
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atres...	OMIM:115470
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalmia, Broad thumb, Abnorm...	ORPHA:1236
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, High, narrow palate, High palate, Wrist flexion contracture, Elbow ankylosis, Uln...	OMIM:208150
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Hydrocephalus, Growth dela...	ORPHA:2556
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Narrow philtrum, Palmoplantar hyperkeratosis, Tibial bo...	OMIM:601812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea...	OMIM:617925
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Cl...	OMIM:616580
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Penile freckling, Hepatomegaly	OMIM:605309
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nep...	ORPHA:342
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ...	ORPHA:39812
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no...	OMIM:615873
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palat...	OMIM:180849
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Anal stenosis, Anal atresia, Absent thumb, Ab...	OMIM:263650
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Oliguria, Decreased liver f...	ORPHA:90051
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Hip dysplasia, Intrauterine growth retardation	ORPHA:494344
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess, B...	OMIM:600145
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Rodrigues Blindness	Microphthalmia, Tooth malposition, Short stature	OMIM:268320
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Fraser Syndrome 3	Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Cutaneous syndactyly, Ascites, Oligohydramnios	OMIM:617667
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft upper lip, Clef...	OMIM:153400
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, H...	OMIM:300968
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Short stature	OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre...	ORPHA:79255
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Larsen Syndrome	Finger syndactyly, Short stature, Accessory carpal bones, Cleft palate, Abnormal epiphysis morpho...	ORPHA:503
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-3 toe syndact...	OMIM:614099
Warburg Micro Syndrome 2	Overlapping toe, Postnatal growth retardation, Microphthalmia, Clinodactyly of the 4th toe, Clino...	OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph...	OMIM:236670
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Short stature, Aganglionic megacolon, Cleft palate	ORPHA:66629
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormality of the tongue, Orofacial c...	ORPHA:2990
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Partial duplication of thumb phalanx, Hyd...	OMIM:164210
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro...	ORPHA:96201
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Polyhyd...	OMIM:229850
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia...	OMIM:100300
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, ...	OMIM:268300
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Short stature, Short thumb, Supernumerary ...	OMIM:268400
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim...	OMIM:619573
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Kinsship Syndrome	Thin upper lip vermilion, Short stature, Single transverse palmar crease, Coxa valga, Thick lower...	OMIM:619297
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Short stature, Postaxial hand polyda...	ORPHA:2473
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L...	ORPHA:2211
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa...	ORPHA:3224
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Short stature, Postaxial polydactyly, Rh...	ORPHA:397715
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality...	OMIM:222470
Warburg Micro Syndrome 4	Short stature, Narrow mouth, Severe postnatal growth retardation, Long philtrum, Microphthalmia	OMIM:615663
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil...	ORPHA:3260
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Atrial septal defect, Patent foramen ovale, Hydronephrosis	OMIM:620327
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo...	ORPHA:1517
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
3Mc Syndrome 3	Short stature, Cleft upper lip, Preaxial polydactyly, Cleft palate, Growth delay, Radioulnar syno...	OMIM:248340
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia, High palate	OMIM:614520
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym...	ORPHA:2035
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Severe postnatal growth...	ORPHA:2399
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Prader-Willi Syndrome	Syndactyly, Thin upper lip vermilion, Short stature, Polyhydramnios, Carious teeth, Acromicria, S...	OMIM:176270
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed an...	OMIM:309801
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa...	ORPHA:352665
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Postnatal growth retardation, Na...	OMIM:620029
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo...	ORPHA:3253
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Tremor, Cardiomyopathy, Intention tremor	OMIM:105210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Splenomegaly, Hepatomegaly	OMIM:201100
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Micro Syndrome	Short stature, High palate, Short philtrum, Delayed puberty, Microphthalmia, Intrauterine growth ...	ORPHA:2510
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Short stature, Tapered finger, Microdontia, Long fingers, Narrow mouth,...	OMIM:616734
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Short statur...	ORPHA:404448
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Pierre-Robin sequence, Cleft palate, Anteriorly placed a...	OMIM:217980
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Clinoda...	OMIM:618505
Culler-Jones Syndrome	Cleft palate, Short stature, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Short stature, Polyhydramnios, Postaxial hand polydactyly, Hydrops fetali...	OMIM:613610
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c...	ORPHA:178303
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet...	OMIM:608233
22Q11.2 Deletion Syndrome	Polyhydramnios, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Spina bifida, ...	ORPHA:567
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia...	OMIM:192350
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Anal ...	OMIM:617666
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Intestinal malrotation, S...	ORPHA:2308
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Ne...	ORPHA:97289
Tetraamelia Syndrome 1	Cleft upper lip, Hydrocephalus, Cleft palate, Hypoplastic pelvis, Microphthalmia, Anal atresia	OMIM:273395
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Autosomal Dominant Robinow Syndrome	Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou...	ORPHA:3107
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocardium morph...	ORPHA:32960
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Cerebrofacioarticular Syndrome	Irregular dentition, Syndactyly, Anal stenosis, Short stature, Lymphedema, Narrow mouth, Anterior...	ORPHA:314679
Hallermann-Streiff Syndrome	Natal tooth, Proportionate short stature, Abnormality of the dentition, High, narrow palate, Supe...	ORPHA:2108
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Brain abscess, Ventricular septal defect, Tetralogy of Fallot,...	ORPHA:97214
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ...	ORPHA:794
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Tremor, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:667
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Fontaine Progeroid Syndrome	Syndactyly, Thin upper lip vermilion, Short stature, Protruding tongue, High, narrow palate, Hydr...	OMIM:612289
Witteveen-Kolk Syndrome	Proximal placement of thumb, Polyhydramnios, High, narrow palate, Short philtrum, High palate, Sh...	OMIM:613406
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cu...	ORPHA:97287
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Spherocytosis, Mitral valve prolapse, Atrial...	ORPHA:251066
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli...	ORPHA:1300
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Short stature, Abnormal d...	ORPHA:534
Aicardi Syndrome	Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Spina bifida, Postnatal growth retar...	OMIM:304050
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors...	ORPHA:2136
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly	ORPHA:2905
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Robinow Syndrome	Dental crowding, Orofacial cleft, Syndactyly, Short stature, Persistence of primary teeth, Mesome...	ORPHA:97360
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Deep philtr...	OMIM:227330
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Atelis Syndrome 2	Single transverse palmar crease, Diastema, Thick lower lip vermilion, Downturned corners of mouth...	OMIM:620185
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Submucous cleft of soft and har...	OMIM:301022
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han...	OMIM:615948
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:613001
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Growth delay, Symphalangism of t...	ORPHA:1439
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Short stature, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, Broad alveolar...	OMIM:616975
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Severe short stature, Optic nerve hypoplasia, Camptodactyly of finger, 4-5...	ORPHA:468631
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downturned corners of mouth, ...	ORPHA:79500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar cre...	OMIM:620186
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Anteriorly placed anus,...	ORPHA:1708
Coccidioidomycosis	Pericarditis, Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abscess, Abnormality ...	ORPHA:228123
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Short statu...	OMIM:148050
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat...	ORPHA:14
Rabson-Mendenhall Syndrome	Dental crowding, Short stature, Abnormality of the dentition, Gingival overgrowth, Furrowed tongu...	ORPHA:769
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l...	ORPHA:2331
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula	OMIM:229400
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma...	ORPHA:508488
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic...	OMIM:601552
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnor...	ORPHA:2907
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Tay-Sachs Disease	Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia	ORPHA:845
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Eosinophilia, Portal hypertension, Thrombocy...	ORPHA:797
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Dystonia, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Trem...	ORPHA:51
Cockayne Syndrome B	Severe short stature, Delayed eruption of primary teeth, Carious teeth, Postnatal growth retardat...	OMIM:133540
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Polydactyly, Hol...	ORPHA:95494
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Fanconi Anemia, Complementation Group E	Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ...	OMIM:600901
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Abnormal denta...	ORPHA:1896
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,...	OMIM:236700
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Severe short stature, Proximal placement of thumb, Talipes equinovarus, ...	OMIM:615789
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature...	OMIM:619539
Fanconi Anemia, Complementation Group C	Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ...	OMIM:227645
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty...	OMIM:107480
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Short stature, Down-sloping shoulders, Open bite, Deep philtrum, Short foot, W...	ORPHA:1974
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Monosomy 9P	Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro...	ORPHA:261112
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, ...	OMIM:617088
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly...	ORPHA:538
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur...	ORPHA:90041
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature, Abnormality of the dentition	ORPHA:1806
Aicardi Syndrome	Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi...	ORPHA:50
Fanconi Anemia, Complementation Group A	Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ...	OMIM:227650
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Histiocytoid Cardiomyopathy	Hydrocephalus, Cleft palate, Microphthalmia, Congenital aphakia, Pulmonary edema	ORPHA:137675
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia	ORPHA:71493
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Pyloric stenosis, Oligohydramnios, ...	ORPHA:464306
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Holoprosencephaly 1	Short stature, Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Median cleft lip and palate	OMIM:236100
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros...	ORPHA:449432
Holoprosencephaly 2	Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ...	OMIM:157170
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Proteinuria, Pericardial effusion, ...	ORPHA:99827
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia, Hypoplasia of teeth	OMIM:234050
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymp...	ORPHA:90340
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Dental malocclusion, Deviation of finger, Abnormal pelvic gird...	OMIM:269500
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Degcags Syndrome	Polyhydramnios, High palate, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion border, Smoo...	OMIM:619488
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Short stature, Postaxial polydactyly, Triangular mouth, Buphthalmos, ...	OMIM:618460
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Widely spaced teeth, High palate, Microdontia, Clinodactyly of t...	OMIM:612474
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Joint swelling, Thin vermilion bord...	ORPHA:96123
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Short stature, Smooth philtrum, Long philtrum	OMIM:616430
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Small hand, Severe postnatal growth retardation, Hip dysplasia, Thick vermilion b...	OMIM:620005
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Orofacial cleft, Abnormality of the upper limb, Intrauterine g...	ORPHA:1556
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph...	OMIM:617913
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Short stature, Narrow mouth, Cleft palate, High palate, Sh...	OMIM:309500
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, C...	OMIM:608594
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd...	ORPHA:373
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:365
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Kenny-Caffey Syndrome, Type 2	Severe short stature, Short stature, Microphthalmia, Thickened cortex of long bones, Abnormality ...	OMIM:127000
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Lymph...	OMIM:256040
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Short stature, Supernumer...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Short stature, Supernumer...	ORPHA:353277
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Elevate...	ORPHA:509
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short stature, Malabsorption, Microphthalmia, Triangular mouth	OMIM:601675
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom...	ORPHA:289390
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Behçet Disease	Glomerulopathy, Pericarditis, Renal insufficiency, Splenomegaly, Endocarditis, Lymphadenopathy, A...	ORPHA:117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Short stature, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric...	ORPHA:268261
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Short stature, Preaxial hand polydac...	ORPHA:857
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Short stature	ORPHA:110
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Overlapping toe, Aganglionic megacolon, Abnormality of the gingiva, Hy...	ORPHA:798
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy...	OMIM:216340
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Bloom Syndrome	Syndactyly, Postnatal growth retardation, Agenesis of maxillary lateral incisor, Growth delay, Ha...	OMIM:210900
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Pericarditis, Renal insufficiency, J...	ORPHA:99826
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula...	OMIM:245600
Semilobar Holoprosencephaly	Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur...	ORPHA:220386
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Alobar Holoprosencephaly	Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Short stature, Hydrocephalus, Hip dislocation, Cleft palate, Growth delay, Neur...	ORPHA:93924
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered...	ORPHA:480880
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithias...	ORPHA:97297
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Papillorenal Syndrome	Microphthalmia, Short stature, Edema	OMIM:120330
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le...	ORPHA:79277
Trichothiodystrophy	Carious teeth, High, narrow palate, Bilateral microphthalmos, Clubbing, Umbilical hernia, Enamel ...	ORPHA:33364
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Partial development of the penile shaft	OMIM:608800
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Unilateral brachydactyly, Wide mouth, High palate, Aplasia/Hy...	ORPHA:1521
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu...	ORPHA:3243
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Conical tooth, Oligodontia, Hy...	OMIM:308300
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion...	ORPHA:1519
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Thin vermilion border, High palate, Polydactyly	OMIM:619869
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli...	ORPHA:978
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia	OMIM:603457
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Orofacial cleft, Growth delay, Polydactyly	ORPHA:17
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Choanal Atresia	Polydactyly	ORPHA:137914
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Leukocytosis, ...	ORPHA:99843
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno...	ORPHA:100079
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Tremor, Splenomegaly, Jaun...	ORPHA:3385
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Short stature, Genu varum	ORPHA:1969
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema...	ORPHA:556
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal tubulointerstitial mor...	ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, L...	OMIM:300967
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Wrist swelling, Postnatal growth retardation, Hip disloca...	OMIM:309000
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Vesicoureteral re...	ORPHA:438213
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cherubism	Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Lymphadenopathy, ...	ORPHA:449563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia	OMIM:253280
Osteoporosis-Pseudoglioma Syndrome	Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h...	ORPHA:261537
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Jejunal atresia, Ileal atresia, Holoprosencephaly, Long philtrum	OMIM:618820
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Mowat-Wilson Syndrome	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, L...	ORPHA:2152
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Coffin-Siris Syndrome 12	Short stature, Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submuco...	OMIM:619325
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Palpebral edema, Short stature, 3-4 finger cutaneous syndactyly, 2-3 toe synda...	OMIM:181270
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, Polyhydramnios, 2-3 toe syndactyly, Talipes equinovaru...	OMIM:620025
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
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
Cockayne Syndrome	Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teet...	ORPHA:191
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val...	ORPHA:744
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Yellow Fever	Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase concent...	ORPHA:99829
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Cervical lymphadenop...	ORPHA:653
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Tubulointerstitial nephritis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor...	OMIM:154500
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h...	ORPHA:261552
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Long fingers, Cutaneous syndactyly,...	OMIM:620330
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Chronic gastritis, Single transverse palmar creas...	OMIM:150230
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t...	ORPHA:99889
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node	ORPHA:707
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Short stature	ORPHA:137605
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Ventricular septal defect, Urinary incontinence...	OMIM:619522
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cockayne Syndrome Type 3	Carious teeth, Microphthalmia, Enamel hypoplasia, Mild postnatal growth retardation	ORPHA:90324
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Short stature, Pyloric stenosis, Submucous clef...	OMIM:235730
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Norrie Disease	Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Thin vermilion border, Delayed puberty, M...	ORPHA:649
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	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
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
Lymph node - MPATH pathological entity term histiocytic sarcoma	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

Gross Morphology Embryo E14.5-E15.5

X-ray

Gross Morphology Embryo E9.5

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Rgl1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data