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Gene: Tcirg1 MGI:1350931

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3

Synonyms:

TIRC7, Atp6i, V-ATPase a3, OC-116, ATP6a3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Tcirg1 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 Tcirg1 (5 diseases)
Human diseases predicted to be associated with Tcirg1 (2551 diseases)

The table below shows human diseases associated to Tcirg1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F...	OMIM:259700
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486

The table below shows human diseases predicted to be associated to Tcirg1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Bulging epiphyses, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp...	OMIM:618982
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Caspase 8 Deficiency	Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:607271
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic...	OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal...	ORPHA:98813
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Osteoglosphonic Dysplasia	Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Multiple unerupted teet...	ORPHA:2645
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ...	OMIM:158300
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr...	OMIM:618495
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F...	OMIM:259700
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener...	ORPHA:53
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o...	ORPHA:277
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis...	ORPHA:566943
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac...	OMIM:614335
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr...	OMIM:241530
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I...	OMIM:300400
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe...	OMIM:618261
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Ventriculomegaly And Arthrogryposis	Ulnar deviation of the wrist, Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis m...	OMIM:619501
Arthrogryposis, Distal, Type 2E	Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Talipes equinovarus, Narrow...	OMIM:121070
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ...	OMIM:619795
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition,...	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive...	OMIM:619824
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4...	OMIM:614450
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal...	OMIM:244460
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu...	OMIM:269840
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased...	ORPHA:83313
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Hepatomegaly, Failure to thrive, Decreased proportion of naive T...	ORPHA:276
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Obesity, Hyperphosph...	OMIM:612462
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha...	OMIM:617099
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ...	OMIM:617306
Moderate Multiminicore Disease With Hand Involvement	Intrinsic hand muscle atrophy, Joint hyperflexibility, Distal upper limb muscle weakness, Knee di...	ORPHA:178145
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteopor...	OMIM:612463
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Short stature, Postnatal growth retardation, Splen...	OMIM:620210
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Hemiatrophy, Advanced pneumatizat...	ORPHA:306741
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Pseudoachondroplasia	Irregular acetabular roof, Limited hip extension, Distal joint laxity, Generalized joint laxity, ...	ORPHA:750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Distal upper limb...	OMIM:619216
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Osteopetrosis	OMIM:615085
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca...	ORPHA:1901
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Ck Syndrome	Dental crowding, Micrognathia, Abnormal digit morphology, Retrognathia, High palate, Malar flatte...	OMIM:300831
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Talipes equinovarus	OMIM:208100
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Ramon Syndrome	Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma...	ORPHA:3019
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Rocker botto...	OMIM:619110
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets, Bowing of the legs	OMIM:615605
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Cleft pal...	ORPHA:2635
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea...	OMIM:618476
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Anemia	ORPHA:100025
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,...	ORPHA:169079
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp...	ORPHA:10
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Ost...	OMIM:184260
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste...	OMIM:265800
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Laron Syndrome	Delayed eruption of teeth, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Short...	ORPHA:633
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo...	ORPHA:628
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Acetabular dysplasia, Genu valgum, Talipes equinovarus, Coxa valga	OMIM:613618
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Abnormality of the dentition	OMIM:615269
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosp...	OMIM:241410
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Failure to thrive, Rickets	OMIM:611590
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory...	OMIM:615767
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal res...	ORPHA:94089
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,...	OMIM:301082
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Obesity, ...	OMIM:103580
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexi...	ORPHA:2097
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Erythema Of Acral Regions	Talipes equinovarus, Abnormality of the dentition	OMIM:227000
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Attention ...	OMIM:618761
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R...	ORPHA:289176
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa...	OMIM:214150
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Flat acetabular...	ORPHA:163649
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H...	ORPHA:231226
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia	OMIM:211600
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Intellectual Developmental Disorder With Autism And Speech Delay	Joint laxity, Abnormal repetitive mannerisms	OMIM:606053
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T...	OMIM:612350
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Weight loss, Hypocalcemia, Recurrent aphthous stomatitis, Steatorrhea, Sto...	OMIM:212750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Hypoglycemia, Small for gestational age, Micrognathia, ...	ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Gracile Bone Dysplasia	Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull ossificati...	OMIM:602361
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Failure to thrive, Hypocholesterolemia	OMIM:607765
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati...	ORPHA:169160
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Growth delay, T lymphocytopenia, D...	OMIM:619510
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ...	ORPHA:231214
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph...	ORPHA:73
Filippi Syndrome	2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor...	OMIM:272440
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced nat...	OMIM:242860
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit...	OMIM:300602
Osteoporosis	Osteoporosis	OMIM:166710
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn...	OMIM:259720
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion...	ORPHA:181
Desmosterolosis	Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Submucous cleft ha...	ORPHA:35107
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bowing of the a...	OMIM:301014
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit...	ORPHA:2323
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Talipes equinovarus, Camptodactyly, Ove...	OMIM:618436
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con...	OMIM:616570
Rubinstein-Taybi Syndrome 2	Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu...	OMIM:613684
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di...	ORPHA:50811
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh...	OMIM:618392
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to...	ORPHA:2088
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism	OMIM:300434
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani...	ORPHA:436
Bangstad Syndrome	Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins...	OMIM:210740
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Generalized joint laxity, Talipes equinovarus, Recurrent sinusitis, J...	OMIM:130010
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn...	OMIM:616531
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur...	OMIM:601457
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial ...	ORPHA:476126
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver...	ORPHA:100973
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement	OMIM:276821
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fi...	ORPHA:79444
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat...	ORPHA:226313
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus, Aggressive behavior	OMIM:615683
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Talipes equinovarus, Dysphagia, Peroneal muscle atrophy	OMIM:181400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia...	ORPHA:2370
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Aggressive behavior, Wide mouth, High...	OMIM:618825
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Epiphyseal Dysplasia, Multiple, 4	Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epiphysis, Limited elbow f...	OMIM:226900
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphade...	OMIM:615934
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De...	ORPHA:95716
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei...	ORPHA:141152
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros...	OMIM:612301
Prieto Syndrome	Coxa valga, Abnormality of the dentition, Osteoporosis, Patellar subluxation, Talipes equinovarus...	OMIM:309610
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Precocious puberty, Narrow mouth, Head-banging, Delayed eruption of permanent teeth...	OMIM:619356
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Cohen Syndrome	Short metacarpal, Small for gestational age, Decreased response to growth hormone stimulation tes...	OMIM:216550
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver...	OMIM:309548
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Recurrent fractures, Osteomalacia,...	ORPHA:1652
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi...	ORPHA:137834
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Cystinosis	Hypokalemia, Failure to thrive, Rickets, Hypophosphatemia	ORPHA:213
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteo...	OMIM:612840
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Talipes equinovarus	ORPHA:238578
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Growth delay, Increased circulating IgG level, Dec...	OMIM:243700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Hypercalcemia, Craniosynostosis	OMIM:614732
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In...	OMIM:602080
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abnormal fibula morphology, ...	ORPHA:2063
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ...	OMIM:616809
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Oligodontia, Short 5th finger...	ORPHA:557003
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Spastic Paraplegia 33, Autosomal Dominant	Ankle clonus, Talipes equinovarus	OMIM:610244
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ...	ORPHA:96263
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Micrognathia, Narrow mouth, Whistling appearance, Trismus, Elbow fl...	OMIM:277720
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Cleft palate...	OMIM:614078
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa...	OMIM:619736
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr...	ORPHA:166002
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi...	ORPHA:79303
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion...	ORPHA:2671
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p...	ORPHA:79443
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Aggressive behavior, Micrognathia, Narrow ...	ORPHA:251019
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c...	OMIM:156400
Maffucci Syndrome	Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary...	ORPHA:163634
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Cleft upper lip, Hypoplasi...	ORPHA:915
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Decreased body weight, Hyperactivity, Dental crowding, Persistence of primary teeth...	OMIM:618342
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov...	OMIM:600175
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D...	OMIM:615122
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Malar flattening	ORPHA:85174
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Cleft palate, ...	ORPHA:2631
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Widely spaced ...	OMIM:618067
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,...	OMIM:601680
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Hyperactivity, Small for gestational age, Tapered finger, Aggressive be...	OMIM:609425
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ...	ORPHA:175
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Abnormality of the thyroid gland, Thick low...	ORPHA:2563
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati...	ORPHA:2643
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus	ORPHA:85288
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, S...	ORPHA:443811
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Calcinosis, Small for ge...	ORPHA:2909
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Pontocerebellar Hypoplasia, Type 12	Rocker bottom foot, Micrognathia, Talipes equinovarus, Overlapping fingers, Joint contracture	OMIM:618266
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Bone Marrow Failure Syndrome 4	Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ...	OMIM:618116
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Long philtr...	OMIM:616354
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Dental crowding, Ankle flexion contracture, Micrognathia, Flex...	OMIM:617468
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the...	OMIM:619269
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Hypothyroidism, Short...	ORPHA:221008
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp...	OMIM:234250
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Small for gestational age, Micrognat...	OMIM:269880
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Ging...	OMIM:228600
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, High, narrow palate...	OMIM:119600
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Ivory epiphyses of the dis...	OMIM:190350
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgE level, Increased ...	OMIM:615816
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Thin vermilion border, Hypocalcemia, Long phi...	ORPHA:1438
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Abnormality of the dentition	OMIM:615266
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Small hand, Short foot, Self-injurious behavior, Arthrogryposis multiplex congenita, Abnormal rep...	OMIM:615282
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ...	ORPHA:96264
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort...	ORPHA:1328
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognathia, Persistenc...	ORPHA:2785
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A...	OMIM:241500
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Cleft lip, Osteoporosis	OMIM:615271
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology...	ORPHA:1277
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation,...	ORPHA:2958
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal...	ORPHA:198
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased...	OMIM:614592
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Increased circul...	OMIM:147060
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep...	OMIM:304790
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, H...	ORPHA:884
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Dec...	OMIM:182250
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Dermatoglyphic ridges abnormal, Small thenar eminence, Talipes equinov...	OMIM:211960
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short philtrum, Clinodactyly of ...	ORPHA:819
Spastic Paraplegia 45, Autosomal Recessive	Flexion contracture, Talipes equinovarus	OMIM:613162
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Cleft palate, Reduced bone mineral density, Abnormal ...	ORPHA:577
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Joint stiffness, Micrognathia, Deep philt...	ORPHA:3447
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st...	ORPHA:289494
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Hyperactivity, Sandal gap, Cryptorchidism, Thick lower lip vermilion, ...	OMIM:614607
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo...	ORPHA:811
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir...	OMIM:227810
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Short middle phalanx of finger, Ta...	ORPHA:93388
Ataxia-Telangiectasia	Lymphopenia, Short stature, Abnormal testis morphology, Decreased circulating antibody level, Pol...	ORPHA:100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop...	ORPHA:398063
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic ...	OMIM:614700
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Hyperekplexia 4	Flexion contracture, Distal arthrogryposis, High palate, Talipes equinovarus, Camptodactyly, Addu...	OMIM:618011
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Weigh...	ORPHA:90362
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating IgM level, Macrov...	OMIM:617303
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto...	OMIM:614069
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s...	ORPHA:100083
Lambert Syndrome	Wide mouth, Malar flattening, Talipes equinovarus	OMIM:245550
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin...	ORPHA:90673
Roifman Syndrome	Short stature, Eosinophilia, Postnatal growth retardation, Decreased circulating antibody level, ...	ORPHA:353298
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Hip dislocation, Talipes equinovarus, Attention deficit hyper...	ORPHA:250994
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Trisomy 9P	Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly...	ORPHA:236
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Slender long bone, Sho...	OMIM:612921
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent...	OMIM:616229
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ...	OMIM:619718
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph...	ORPHA:381
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow...	OMIM:272460
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia...	OMIM:607143
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Gingival fibromatosis, Abnorm...	ORPHA:2591
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin...	ORPHA:29073
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Micrognat...	OMIM:617913
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Hypoplasia of the maxilla, Genu valgum,...	OMIM:608154
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Micrognathia	ORPHA:1237
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of the capital femoral...	ORPHA:502
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resis...	OMIM:262190
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp...	OMIM:188570
Proteus Syndrome	Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Open mouth	OMIM:176920
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Hypocalcemia, Widely spaced teeth, Microdontia, Anodontia, Join...	OMIM:218330
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant...	OMIM:617591
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro...	ORPHA:1193
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr...	ORPHA:90674
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Anorexia...	ORPHA:824
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Ascher Syndrome	Deviation of finger, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter	ORPHA:1253
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Widely spaced teeth, Attention deficit hyperactivity disorder, Abnormal repetit...	OMIM:618906
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase...	ORPHA:77297
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Hyperactivity, Aggressive behavior, Dental malocclusion, Abnormal repetitive manne...	OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia, Intrauterine growth retardation	ORPHA:448237
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mic...	OMIM:259775
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph...	ORPHA:221016
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Immunodeficiency 46	Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri...	OMIM:616740
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate...	ORPHA:2712
48,Xyyy Syndrome	Impulsivity, Aggressive behavior, Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar...	ORPHA:99329
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi...	ORPHA:2137
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased circulating IgE level, Increased sus...	OMIM:619752
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Joint hypermobility	OMIM:620065
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Distal lower limb muscle w...	OMIM:609311
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Aggressive behavior, Hypoplasia of the maxilla, High pal...	ORPHA:85279
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulat...	OMIM:309000
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Nescav Syndrome	Flexion contracture, Talipes equinovarus	OMIM:614255
X-Linked Agammaglobulinemia	Osteomyelitis, Sinusitis, Weight loss, Agammaglobulinemia, Arthritis, Glossoptosis, Hypocalcemia,...	ORPHA:47
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Brucellosis	Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytop...	ORPHA:1304
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc...	OMIM:615190
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Joint stiffness, Micrognathia, Limitation of ...	ORPHA:1801
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate...	ORPHA:3473
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv...	OMIM:614034
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:158061
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Delayed puberty	ORPHA:1816
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Talipes equinovarus	OMIM:613710
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Cleft palate, Ulnar deviation of finger, Genu va...	OMIM:222600
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Steatorrhea	ORPHA:309031
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Microtriplication 11Q24.1	Metatarsus adductus, Limitation of joint mobility, Small hand, Cleft palate, Genu valgum, Short f...	ORPHA:289522
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Flexion contracture, Genu valgum, Irregular epiphyse...	ORPHA:263463
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali...	ORPHA:1326
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Pes cavus, Talipes equinovarus, Upper limb amyotrophy	OMIM:617087
Congenital Arthrogryposis With Anterior Horn Cell Disease	Single transverse palmar crease, Rocker bottom foot, Micrognathia, Areflexia of lower limbs, High...	OMIM:611890
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Thyro...	ORPHA:525731
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Lymphadenitis, Sp...	OMIM:618935
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa...	OMIM:613658
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Overweight, Small hand...	OMIM:619229
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Achilles tendon contracture, Decreased patellar re...	OMIM:615290
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss...	ORPHA:449400
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Abnormal repetitive mannerisms, Wide mouth...	OMIM:618347
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Coffin-Siris Syndrome 3	Joint laxity, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Del...	OMIM:614608
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Elbow flexion contracture, Macroglossia, Oligodontia, H...	OMIM:618440
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Abnormal dental morphology, Micrognathia...	ORPHA:319195
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, H...	OMIM:601812
Spastic Paraplegia 47, Autosomal Recessive	Pes planus, Genu recurvatum, Flexion contracture, Wide mouth, High palate, Talipes equinovarus, S...	OMIM:614066
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Achondrogenesis	Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral density, ...	ORPHA:932
Achondrogenesis Type 1A	Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Shor...	ORPHA:93299
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Intrauterine growt...	ORPHA:858
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal...	ORPHA:140976
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und...	OMIM:602557
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Short stature, Reduced natural killer cell activity, Splenomegal...	OMIM:616050
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Overla...	OMIM:619148
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot...	ORPHA:2616
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Micrognathia, Cryptorchidism, Repetitive compulsive beh...	ORPHA:352490
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod...	OMIM:300755
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Intellectual Developmental Disorder, Autosomal Recessive 61	Joint laxity, Mandibular prognathia, Hyperactivity, Tapered finger, Aggressive behavior, Long fin...	OMIM:617773
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, High pal...	ORPHA:800
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ...	ORPHA:50814
Crisponi/Cold-Induced Sweating Syndrome 1	Pes planus, Tapered finger, Micrognathia, Narrow mouth, Carious teeth, Trismus, Elbow flexion con...	OMIM:272430
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo...	OMIM:259450
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Achondrogenesis Type 1B	Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Talipes equinovarus, Long...	ORPHA:93298
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Cleft...	OMIM:618469
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Pes planus, Thin upper lip vermilion, Single transverse palmar crease, Micrognathia...	OMIM:613544
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec...	OMIM:619774
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Increased skull ossification, Abnormal repetitive mannerisms, Thick verm...	OMIM:619690
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender lon...	OMIM:612731
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Growth delay, Leukopen...	ORPHA:77259
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:540
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla...	ORPHA:79078
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o...	ORPHA:400
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Self-biting, High palate, Talipes equinov...	ORPHA:3306
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon...	ORPHA:95715
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Naegeli-Franceschetti-Jadassohn Syndrome	Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma...	ORPHA:69087
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Diabetes mellitus, Abnormality of the dentition, Abnormality of the pa...	ORPHA:2315
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ...	OMIM:300972
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia, Pal...	OMIM:226650
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb	ORPHA:2091
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteolysis, Downtu...	ORPHA:2774
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet...	OMIM:256050
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Dysphagia, Knee flexion contracture, Distal arthrogryposis, Talipes equ...	OMIM:618198
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Myopathic Ehlers-Danlos Syndrome	Pes planus, Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, An...	ORPHA:536516
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Short palm, ...	ORPHA:85172
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Failure to thrive	ORPHA:411629
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Malar fl...	OMIM:600972
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Short stature, Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymph...	OMIM:619750
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Abnorm...	ORPHA:93329
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,...	OMIM:618961
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Cleft palate, High palate, Talipes equinovarus, Tongue fasciculations, D...	OMIM:614399
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei...	ORPHA:324964
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Short stature, Decreased circulating IgG2 lev...	OMIM:208900
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Bilateral talipes equinovarus, Long philtrum, Hand clenching, Arth...	ORPHA:319332
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Slender build, Aggressive behavior, Cryptorchidism, Narrow p...	ORPHA:364028
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation...	OMIM:268400
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Truncal obesity,...	ORPHA:2928
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:1803
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repetitive mannerism...	OMIM:618917
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, G...	ORPHA:319487
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Glossitis	OMIM:175500
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Mehmo Syndrome	Tapered finger, Downturned corners of mouth, Thick vermilion border, Agitation, Talipes equinovarus	ORPHA:85282
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren...	OMIM:616897
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Hip dislocation, Oste...	OMIM:616507
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Talipes equinovarus	OMIM:611067
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ...	OMIM:157980
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad...	OMIM:260920
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Abnormality of neutrophils, Splenomegaly, Lymp...	ORPHA:33226
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Abnormal repetitive mannerisms, Hyperactivity, Elbow flexion contracture, Aggressive behavior	OMIM:619470
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal circulating calcium-phosphate regulating hormone concentratio...	ORPHA:2238
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu...	OMIM:614815
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok...	ORPHA:18
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Micro...	OMIM:255800
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope...	ORPHA:1327
Moebius Syndrome	Syndactyly, Pes planus, Brachydactyly, Micrognathia, Abnormality of the dentition, Clinodactyly, ...	OMIM:157900
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, ...	OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, Self-injurious behavior, High palate, Clinodac...	OMIM:615637
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Dental crowding, Small for gestational age, Micrognathia, O...	OMIM:610883
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Dental crowding, Multiple joint...	ORPHA:96170
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut...	OMIM:203550
Perrault Syndrome 1	High palate, Pes cavus, Osteoporosis, Talipes equinovarus	OMIM:233400
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis, Abnormality of the dentition	OMIM:615267
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Attention deficit hyperactivity disorder, Compulsive ...	OMIM:620021
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo...	ORPHA:2136
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add...	ORPHA:2804
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Hypothyroidism, Sh...	OMIM:600430
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac...	ORPHA:424
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Wide mouth, Bilateral talipes equinovarus, Polyphagia, Self-mutilation	OMIM:616521
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Micrognathia, Coxa valga, Cleft palate, Ulnar deviation of fing...	ORPHA:949
Congenital Myopathy 20	Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe joint contracture, Microgna...	OMIM:620310
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Gapo Syndrome	Micrognathia, Wide anterior fontanel, High, narrow palate, Thick lower lip vermilion, Eruption fa...	OMIM:230740
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Abnormal foot morphology, Self-injurious behavior, Abnorm...	OMIM:618218
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Wide distal femoral metaphysis, Del...	OMIM:613320
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation	OMIM:272300
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate...	ORPHA:2108
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p...	OMIM:114300
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ...	OMIM:615952
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha...	ORPHA:1572
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Pulmonary Blastoma	Weight loss	ORPHA:64741
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg...	ORPHA:235
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Long foot, Aggressive behavior, Fixated interests, Tics, Talipes equinovarus, Attention...	OMIM:617788
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ...	OMIM:615758
Pitt-Hopkins Syndrome	Tapered finger, Broad fingertip, Small hand, Short metatarsal, Finger clinodactyly, Wide mouth, S...	ORPHA:2896
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Diabetes mellitus, Overweight, Repetitive compulsive be...	ORPHA:391372
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Limitation of joint mobility, Micromelia, Coxa vara	ORPHA:168555
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodo...	OMIM:615502
Lead Poisoning	Delayed eruption of teeth, Small for gestational age, Anorexia, Cranial hyperostosis, Imbalanced ...	ORPHA:330015
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti...	ORPHA:1787
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Wid...	OMIM:607812
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph...	ORPHA:228123
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Overweight, Generalized joint laxity, Wide mouth, High palate, Short...	ORPHA:280763
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl...	OMIM:615065
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi...	OMIM:609128
12Q14 Microdeletion Syndrome	Micrognathia, Osteopoikilosis, Downturned corners of mouth, Thin vermilion border, Hypodontia, Cl...	ORPHA:94063
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Growth delay, Anemia	OMIM:607115
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Metaphyseal dysplasia, Proximal placement of thumb, Flexion contr...	OMIM:613330
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto...	ORPHA:83601
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hyperactivity, A...	ORPHA:209905
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
2Q23.1 Microdeletion Syndrome	Hyperactivity, Tented upper lip vermilion, Sandal gap, Macrodontia, Cryptorchidism, Polyphagia, S...	ORPHA:228402
Recon Progeroid Syndrome	Smooth philtrum, Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pro...	OMIM:620370
Hallermann-Streiff Syndrome	Natal tooth, Small for gestational age, Selective tooth agenesis, Micrognathia, High, narrow pala...	OMIM:234100
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:300310
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, T...	OMIM:617865
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, A...	OMIM:211750
Freeman-Sheldon Syndrome	Camptodactyly of finger, Joint stiffness, Abnormality of the dentition, Ulnar deviation of finger...	ORPHA:2053
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Movement abnormality of the tongue, Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h...	OMIM:180870
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline...	ORPHA:276580
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Abnormal ...	ORPHA:2067
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Cheilit...	ORPHA:247353
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Pes planus, Overfriendliness, Thin upper lip vermilion, Exaggerated cupid's bow, Ta...	OMIM:619293
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Metaphyseal widening, Rickets, Reduced blood urea nit...	OMIM:219800
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Short stature, Fluctuating hepatomeg...	OMIM:610377
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Bilateral talipes equinovarus	OMIM:616486
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s...	ORPHA:276575
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Single transverse palmar crease...	OMIM:610253
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Abnormal thumb morphology, Abnormal femur morphology, Weight...	ORPHA:1842
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa...	OMIM:609152
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Recurrent fractures, Goiter	ORPHA:97290
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Wide anterior fontanel, Hyperbilirubinemia, Decreased body weight, ...	OMIM:614886
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Abnormal liver parenchyma morphology, Weig...	ORPHA:1332
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Neutropeni...	OMIM:616395
Anaplastic Thyroid Carcinoma	Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Desmosterolosis	Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowt...	OMIM:602398
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, 2-3 toe...	ORPHA:313892
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch...	ORPHA:562639
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat...	OMIM:222765
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive	OMIM:226700
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Failure to thrive, Hypocalcemia	OMIM:606407
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu...	OMIM:101200
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Carious teeth, Abnormality of the thyroid gland, Bone cyst, Primary ad...	ORPHA:2047
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Long philtrum, Bilateral talipes equ...	OMIM:615539
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Temporomandibular joint ankylosis, Lateral ...	OMIM:164900
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre...	OMIM:301080
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Dysphagia, Oligodontia, Hypodontia, Del...	ORPHA:447896
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay	ORPHA:343
Christianson Syndrome	Mandibular prognathia, Cachexia, Joint hyperflexibility, Inappropriate laughter, Dysphagia, Arthr...	ORPHA:85278
Renpenning Syndrome	Mandibular prognathia, Diabetes mellitus, Macrodontia, Cachexia, Joint stiffness, Abnormal thumb ...	ORPHA:3242
Cerebellofaciodental Syndrome	Tapered finger, Aggressive behavior, Cryptorchidism, Dental malocclusion, Shortening of all dista...	OMIM:616202
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Pes planus, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, ...	OMIM:301069
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Gin...	OMIM:225410
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Failure to thrive, Camptodactyly of finger, Micrognathia,...	ORPHA:3047
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft palate, Malar fl...	ORPHA:2145
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro...	OMIM:617827
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Micr...	OMIM:258850
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Abnormality of the endocrine system, Hypohidrosis, Hypoplastic nipples...	OMIM:129550
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Retrognathia,...	ORPHA:561
Tarp Syndrome	Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial...	ORPHA:2886
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Hypocalcemia, Cutaneous syndactyly	OMIM:601005
Immunodeficiency, Common Variable, 6	Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n...	OMIM:613496
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac...	ORPHA:666
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular...	ORPHA:505248
Roifman Syndrome	Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Lymphadeno...	OMIM:616651
Peeling Skin Syndrome 1	Increased circulating IgE level, Short stature, Eosinophilia	OMIM:270300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Hypoglycemic seizures, Periodontitis, Hepatic steatosis, Hypo...	ORPHA:79259
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, Aggressiv...	ORPHA:369950
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Small for gestational age, Micrognathia, Long hallux, High palate, Cli...	OMIM:620194
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Talipes equinovarus, Long philtrum	OMIM:619972
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly	ORPHA:40
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Talipes equinovarus, Camptod...	OMIM:264180
Masa Syndrome	Pes cavus, Talipes equinovarus, Adducted thumb	OMIM:303350
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta	OMIM:229200
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c...	ORPHA:276608
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Hyperactivity, Small for gestational age, Failure to thr...	OMIM:614104
Seckel Syndrome 1	Ivory epiphyses, Pancytopenia, Hyperactivity, Sandal gap, Abnormal finger flexion crease, Dental ...	OMIM:210600
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Recurrent fractures, Abnormal...	ORPHA:2314
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Oligodontia, High palate, H...	OMIM:612313
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop...	OMIM:257200
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Brachycephaly, Trichomegaly, And Developmental Delay	Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li...	OMIM:617412
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Steatorrhea, Calvarial hyperostosis, Failure to thrive	OMIM:612714
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Triangular tongue	OMIM:616827
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti...	ORPHA:449427
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Abnormal foot mor...	ORPHA:99948
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H...	ORPHA:2249
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Tongue atrophy	OMIM:616155
Idiopathic Hypercalciuria	Osteopenia, Abnormal circulating calcium concentration, Osteoporosis	ORPHA:2197
Lambert Syndrome	Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah...	ORPHA:1296
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Brachydactyly, Decreased circulating IgG level, Rhizomelia, Ab...	OMIM:271510
Congenital Myopathy 24	High palate, Scapular winging, Pes cavus, Talipes equinovarus	OMIM:617336
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Broad palm, Retrognathia, Thic...	OMIM:300280
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, Fibular hypoplasia,...	OMIM:201170
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Rhabdoid Tumor	Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Thick vermilion...	OMIM:615866
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Cleft palate, Genu valgum	OMIM:614880
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Developmental And Epileptic Encephalopathy 91	Single transverse palmar crease, Micrognathia, Thick vermilion border, Talipes equinovarus, Short...	OMIM:617711
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Larsen-Like Syndrome	Joint laxity, Dental malocclusion, Cleft palate, Talipes equinovarus, Radial deviation of the 4th...	OMIM:608545
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost...	ORPHA:371428
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly	OMIM:612626
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr...	ORPHA:168549
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss	ORPHA:2902
Idiopathic Achalasia	Dysphagia, Weight loss	ORPHA:930
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg...	OMIM:609029
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Temtamy Syndrome	Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T...	OMIM:218340
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi...	ORPHA:369837
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Absent Achilles reflex, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal art...	OMIM:620011
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Thymic Neuroendocrine Tumor	Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor...	ORPHA:39041
Short Syndrome	Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo...	ORPHA:3163
Blepharochalasis And Double Lip	Goiter, Duplication of the upper lip	OMIM:109900
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele...	OMIM:615108
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Cryptorchidism, Patel...	ORPHA:85201
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele...	OMIM:158350
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Carious teeth, Reduced bone mineral density, Abnormal palate morphology	ORPHA:2617
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight	OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Hyperactivity, Sandal gap, Aggressive behavior, Narrow palate, Recurrent h...	OMIM:615516
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Retrognathia, High palate, Limb undergrowth, Joint contracture, Fail...	OMIM:618005
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Single transverse palmar crease	OMIM:617820
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Cryptorchidism, Flexion c...	ORPHA:90322
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellu...	ORPHA:47612
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Joint laxity, Hypoglycemia, Wide mouth, Macroglossia, Recurren...	OMIM:616260
Intestinal Dysmotility Syndrome	Failure to thrive, High palate, Broad philtrum, Weight loss	OMIM:620045
Achondroplasia	Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Wide a...	ORPHA:15
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility, High palate	ORPHA:1035
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short...	OMIM:612813
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal...	ORPHA:582
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Pontocerebellar Hypoplasia, Type 11	Pes planus, Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactivity disorde...	OMIM:617695
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Macrovesicular hepatic ste...	OMIM:616433
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Dysphagia, Clubbing of toes, Weight loss	ORPHA:2198
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Multiple joint contractures, Single transverse palmar crease, Overlap...	OMIM:618291
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Cachexia, Joint stiffness	ORPHA:1144
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Restlessness, Brachydactyly, Hyperactivity, Thin upper lip vermilion, Aggr...	OMIM:300534
Pontocerebellar Hypoplasia, Type 1A	Abnormal foot morphology, Congenital contracture, Talipes equinovarus, Tongue fasciculations, Dys...	OMIM:607596
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Contractures of the large jo...	OMIM:616716
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Hamamy Syndrome	Osteopenia, Microcytic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Diencephalic Syndrome	Cachexia, Hyperhidrosis, Everted lower lip vermilion, Decreased body weight, Abnormality of the h...	ORPHA:1672
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of...	ORPHA:2633
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor...	ORPHA:297
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper...	ORPHA:457240
Charcot-Marie-Tooth Disease, Type 4B2	Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus	OMIM:604563
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Rhizomelia, Micrognathia, Delayed ossification of pubic ra...	OMIM:602471
Tuberculosis	Weight loss	ORPHA:3389
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor...	OMIM:619326
Aase-Smith Syndrome I	Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Micrognathia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weigh...	ORPHA:1979
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus, Arthrogryposis multiplex...	OMIM:618484
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Central Core Disease	Joint laxity, Pes planus, Multiple joint contractures, Congenital hip dislocation, Talipes equino...	ORPHA:597
Nasu-Hakola Disease	Bone cyst, Abnormal epiphysis morphology, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele...	OMIM:615109
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
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Mulibrey Nanism	Hepatomegaly, Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sin...	OMIM:253250
Asthma, Short Stature, And Elevated Iga	Short stature, Increased circulating IgA level	OMIM:208600
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion...	OMIM:269500
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Achilles te...	OMIM:301041
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Knee flexion contracture, High palate, Wrist flexion contracture, Arach...	OMIM:121050
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U...	ORPHA:94068
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis, Sl...	ORPHA:902
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus, Campt...	OMIM:617333
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Foot joint contracture, Delayed eruption of primary teeth, A...	ORPHA:90321
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Cl...	OMIM:235255
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha...	ORPHA:101097
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, ...	ORPHA:508542
Seizures-Scoliosis-Macrocephaly Syndrome	Long philtrum, Overlapping toe, Reduced bone mineral density	ORPHA:466926
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Dental malocclusion, Sh...	ORPHA:2471
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Lymphadenopathy	ORPHA:26790
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Failure to thrive, Macrodontia, Proximal placement of thumb, C...	OMIM:212066
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Abn...	ORPHA:861
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Aggressive behavior, Short philtrum, Talipes equinovarus, Attention...	OMIM:301039
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Insulin-Like Growth Factor I Deficiency	Osteopenia, Decreased body weight, Clinodactyly of the 5th finger, Micrognathia	OMIM:608747
Sotos Syndrome	Mandibular prognathia, Joint laxity, Aggressive behavior, High, narrow palate, Cryptorchidism, Lo...	OMIM:117550
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing...	OMIM:617866
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Talipes equinovarus, Micrognathia	OMIM:616171
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Splenomegaly, Mi...	OMIM:301072
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Thick vermilion bo...	OMIM:619980
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus	OMIM:615035
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of mouth, Wide...	OMIM:122470
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Failure to thrive,...	ORPHA:275
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Hy...	ORPHA:73223
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,...	OMIM:603553
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycem...	ORPHA:769
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Hyperhidrosis	OMIM:613576
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Incr...	OMIM:300291
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Absent nipple, Unilateral cleft palate, ...	ORPHA:1299
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperins...	OMIM:608612
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, F...	OMIM:619644
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,...	OMIM:618162
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ...	ORPHA:99827
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Glutaric Aciduria Iii	Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Microretrognathia, Craniosynostosis, Self-injurious behavior, High palate,...	ORPHA:397612
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Joint stiffness, Carious teeth, Sp...	OMIM:253200
Congenital Disorder Of Glycosylation, Type Iih	Micrognathia, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral co...	OMIM:611182
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, High, narrow palate, Thick lower lip vermilion, High ...	OMIM:162300
Erythrokeratodermia Variabilis	Diabetes mellitus, Tapered finger, Weight loss, Abnormal testis morphology, Brachydactyly	ORPHA:317
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Split hand, Thick lower lip vermilion, Fle...	OMIM:309900
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Flexion contrac...	ORPHA:1865
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Bruxism, Abnormal repetitive...	OMIM:618718
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Talipes equinovarus, Pes cavus, Abnormality of the Achille...	ORPHA:643
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd...	OMIM:618186
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity	OMIM:609054
Rift Valley Fever	Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th...	ORPHA:319251
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hyperactivity, Small for gestational age, Aggres...	OMIM:123450
Vici Syndrome	Decreased circulating IgG level, Failure to thrive, Postnatal growth retardation, Decreased circu...	OMIM:242840
X-Linked Intellectual Disability, Cabezas Type	Hyperhidrosis, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, Hyperacti...	ORPHA:85293
Charcot-Marie-Tooth Disease Type 4G	Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl...	ORPHA:99953
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes calcaneovalgus...	ORPHA:2614
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Micrognathia, Tapered finger, Cryptorchidism, Dental malocclusion, Alveol...	ORPHA:444072
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,...	OMIM:309583
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Impulsivity, Aggressive behavior, Micrognathia, 2-3 toe syndac...	OMIM:618914
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Short stature, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Dec...	OMIM:215250
Spastic Paraplegia 52, Autosomal Recessive	Flexion contracture, Wide mouth, Thick vermilion border, High palate, Talipes equinovarus, Short ...	OMIM:614067
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Ovarian neoplasm	OMIM:616534
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Noonan Syndrome 13	Joint laxity, Pes planus, U-Shaped upper lip vermilion, Overlapping toe, Tapered finger, Lower li...	OMIM:619087
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Talipes equinovarus	OMIM:616756
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Genu recurvatum, Overlapping toe, Flexion contracture, Elbow flexi...	OMIM:617301
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma, Abnormal epi...	ORPHA:35687
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Wrist flexion cont...	OMIM:193700
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal sclerosis, Hypothy...	ORPHA:2905
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Wieacker-Wolff Syndrome	U-Shaped upper lip vermilion, Proximal placement of thumb, Micrognathia, Hip dislocation, Congeni...	OMIM:314580
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, High palate, Talipes equinovarus, Long philtrum	OMIM:614872
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Joint stiffness, Oral-pharyngeal dysphagia, Tracheobroncho...	OMIM:619184
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Exaggerated cupid's bow, Tapered fing...	ORPHA:2215
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal...	ORPHA:449395
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Orofa...	ORPHA:1988
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Precocious puberty, Tapered finger, Large for gestatio...	ORPHA:261652
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m...	ORPHA:3079
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Joint stiffness, Micrognathia, ...	ORPHA:1512
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, Precocious puberty, Long fingers, High, narrow palate, Cryptorchidism,...	ORPHA:96092
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Hepatitis, Biliary cirrhosis, Abn...	ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Arachnodactyly, Micrognathia, Aggressive behavior, Wide mouth, Self-injurious behav...	OMIM:300986
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Submucous cleft hard palate, Cleft palate, Hypocalcemia...	ORPHA:3426
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Joint contracture, Failure to thrive, Abnormal repetitive mannerisms	OMIM:617393
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Obesity,...	ORPHA:251004
Roussy-Lévy Syndrome	Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Genu valgum	ORPHA:3115
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Micrognathia, Hypoplastic frontal sinuses, Small hand, Cleft palate, Sh...	OMIM:300712
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ...	ORPHA:1227
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Wilson Disease	Hepatomegaly, Aggressive behavior, Splenomegaly, Jaundice, Hypersexuality, Hepatitis, Increased b...	ORPHA:905
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema...	OMIM:248370
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Cryptorchidism, Small, conical...	ORPHA:2962
Alazami Syndrome	Abnormal eating behavior, Wide mouth, Slender long bone, Thick vermilion border, Short philtrum, ...	ORPHA:319671
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp...	ORPHA:160
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Growth del...	ORPHA:1451
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Flexion contracture, High palate, Talipes equinovarus, Arthrogryposis multiplex con...	OMIM:601110
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thin vermilion border, Sh...	ORPHA:2983
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq...	ORPHA:199302
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Micrognathia, Cryptorchid...	OMIM:247200
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Tics, Short philtrum, Attention d...	OMIM:617808
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, Elbow ...	OMIM:616266
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Thyroid Lymphoma	Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, L...	OMIM:619762
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,...	OMIM:617114
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast...	ORPHA:798
Icf Syndrome	Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia	ORPHA:2772
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Joint hypermob...	OMIM:300990
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Reduced bone mineral density,...	ORPHA:1488
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Anemia, Oral mucosal blisters	ORPHA:79402
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce...	ORPHA:276556
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Long fingers, High palate, Talipes equinovarus, Narrow mouth, ...	ORPHA:169186
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Arachnodactyly, Micrognath...	ORPHA:371364
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Abnormal repetitive mannerisms, Widely spaced teeth, Clinodactyly, Re...	OMIM:619092
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacru...	OMIM:614813
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Clef...	ORPHA:2756
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Cachexia, Postaxial hand polydactyly, Long philtrum, Abnormal palate morphology	ORPHA:1389
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, La...	ORPHA:77301
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivit...	ORPHA:353281
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty	OMIM:618985
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Hypoplastic ilia, Long ...	OMIM:615349
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, H...	ORPHA:2457
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Perlman Syndrome	Hepatomegaly, Micrognathia, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancr...	ORPHA:2849
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia...	OMIM:212112
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H...	OMIM:280000
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cachexia, Cone-sha...	ORPHA:808
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Diabetes mellitus, Hypogonadotropic ...	ORPHA:465508
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt...	OMIM:615966
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity	ORPHA:71529
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus	OMIM:608340
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Lopes-Maciel-Rodan Syndrome	Small hand, Dysphagia, Ankle clonus, Short foot, Agitation, Bruxism, Abnormal repetitive mannerisms	OMIM:617435
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M...	OMIM:610682
Laryngeal Abductor Paralysis	Talipes equinovarus, Dysphagia	OMIM:150260
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Retrognathia, Short foot, Spina bifida occulta, Thickened cortex of long ...	ORPHA:488434
Dyskeratosis Congenita, Digenic	Failure to thrive, Short stature, Decreased circulating total IgM, Intrauterine growth retardatio...	OMIM:620040
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Flexion contracture, Calf muscle hypertrophy, Scapular muscle atrophy, ...	OMIM:611588
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Short toe, Flexion contracture, High palate, Talipes equinovarus, Malar flattening,...	ORPHA:98791
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Hip dislocation, Dental malocclusion, Cle...	OMIM:300867
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Short stature	OMIM:615139
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Autosomal Recessive Spastic Paraplegia Type 77	Bilateral cryptorchidism, Neuromuscular dysphagia, Hip dysplasia, Macrodontia of permanent maxill...	ORPHA:466722
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Joint contracture, Talipes equinovarus, Narrow palate	OMIM:617481
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Bulimia, C...	OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners...	OMIM:613443
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ...	ORPHA:125
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re...	OMIM:620133
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Abno...	ORPHA:314621
Myopathy, Centronuclear, 2	Scapular winging, Flexion contracture, High palate, Talipes equinovarus, Pes cavus	OMIM:255200
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Wei...	ORPHA:781
Intellectual Developmental Disorder, Autosomal Dominant 38	Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-...	OMIM:616393
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Ta...	OMIM:616801
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia	OMIM:600740
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Flexion contracture, Calcaneovalgus defo...	ORPHA:562528
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Downturned corners of mouth, Joint hyperflexibility, Slender long b...	ORPHA:1185
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:85408
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Pneumocystosis	Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Small ...	ORPHA:3121
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Hypocalcemia, Short distal phalanx of finger	ORPHA:1563
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Premature loss of teeth, Recurrent fractures, Gingivitis	OMIM:618107
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ...	ORPHA:449563
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Rocker bottom foot, ...	ORPHA:163979
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax...	OMIM:619143
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Wide mouth, High palate, Talipes equinovarus, Short philtrum, Adducted thumb	OMIM:612936
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Netherton Syndrome	Decreased circulating IgG level, Failure to thrive, Hypereosinophilia, Increased circulating IgE ...	OMIM:256500
Hirschsprung Disease	Weight loss, Neoplasm of the thyroid gland, Failure to thrive in infancy, Adducted thumb	ORPHA:388
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Hyperactivity, Severe temper tantrums, Sagittal craniosynostosis, Thick...	OMIM:618027
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Decreased circulating antibody level, Hypoalbum...	OMIM:618183
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Thin lower lip vermilion, Short metatarsal, Cone-shaped epiphysis, ...	OMIM:613328
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Obesity, Polycystic ...	ORPHA:3085
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
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, Tapered finger, Abn...	OMIM:617807
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Cachexia, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocat...	ORPHA:2058
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem...	OMIM:619142
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot, Self-injurious ...	ORPHA:238750
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, A...	OMIM:617796
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ...	OMIM:616033
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy...	ORPHA:785
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Hi...	ORPHA:1655
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S...	OMIM:176270
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, H...	ORPHA:199299
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Hyperactivity, Aplastic anemia, Micrognathia, Carious teet...	OMIM:223370
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal...	OMIM:236500
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Hepatomegaly, Anhidrosis, Delayed eruption of primary tee...	OMIM:216400
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Silver-Russell Syndrome	Sandal gap, Dental crowding, Cachexia, Micrognathia, Precocious puberty, Cryptorchidism, Insulin ...	ORPHA:813
Cystathioninuria	Talipes equinovarus	ORPHA:212
Leukodystrophy, Hypomyelinating, 24	Severe short stature, B lymphocytopenia	OMIM:619851
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Micrognathia, Abnormal repetitive mannerisms, Joint hyperflexibility,...	ORPHA:2479
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Roo...	ORPHA:416
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Hyperhidrosis, Enamel hypoplasia, Anemia	ORPHA:79406
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Anhidrosis, Small for gestational age, Delayed eruption of p...	OMIM:133540
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus	OMIM:209770
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Intrinsic hand muscle atrophy, Knee flexion contracture, Talipes equinovarus, Tracheomalacia, Pes...	OMIM:615490
Slc39A8-Cdg	Osteopenia, Abnormal blood zinc concentration, Failure to thrive in infancy, Craniosynostosis, El...	ORPHA:468699
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter	OMIM:180295
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ...	ORPHA:363611
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo...	ORPHA:1597
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen...	ORPHA:520
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormality of the dentition, Aggressive behavior, 2-3 toe syndactyly, Thin vermil...	ORPHA:391307
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Knee dislocation, Microdontia, Dislocated radial head, Microretrognathi...	OMIM:245600
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, Short middle p...	OMIM:613823
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin...	ORPHA:36234
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Impaired T cell function, Short stature, Abnormal l...	ORPHA:1830
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Precocious puberty, Cryptorc...	OMIM:620073
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ...	OMIM:209885
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Irregular dentition, Tented upper lip vermilio...	OMIM:601390
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly...	ORPHA:505237
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Hypohidrosis	OMIM:615328
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Attention deficit hyperactivity d...	OMIM:301029
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Hyperostosis,...	ORPHA:73230
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Hepatitis, Neutropenia i...	ORPHA:391487
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Dist...	OMIM:108145
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Abnormality of the dentiti...	OMIM:605822
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, C...	ORPHA:474
Glycogen Storage Disease Ixc	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ...	OMIM:613027
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Hyperactivity, Aggressive beha...	ORPHA:1465
Lamb-Shaffer Syndrome	Hyperactivity, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thick vermilion border, Abn...	ORPHA:530983
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ...	ORPHA:263455
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow...	OMIM:108720
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse...	OMIM:615656
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Elevated circulating creatine kinase concentration, Micro...	ORPHA:79322
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th ...	OMIM:609638
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Tapered finger, Anorexia, Splenomegaly, Hypogeusia, Furrowed tongue, Anemia	ORPHA:2930
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,...	OMIM:618165
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen...	OMIM:308050
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Sandal gap, Tapered finger, ...	OMIM:618430
22Q11.2 Deletion Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Impaired T cell function, Micrognathia, Abnorm...	ORPHA:567
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Micrognathia, Prominent crus of helix, Aggressive behavior, Thin ver...	OMIM:619695
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Failure to thrive, Postaxial polydactyly, Splenomegaly, Cholestasis, ...	OMIM:614576
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Cli...	OMIM:223800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Mild postnatal growth...	OMIM:224120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Talipes equinovarus	OMIM:618845
Obesity And Hypopigmentation	Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity	OMIM:620195
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype...	OMIM:620141
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal...	ORPHA:436003
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Advanced e...	ORPHA:2348
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Hepato...	OMIM:135500
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t...	ORPHA:90045
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the t...	ORPHA:733
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Snijders Blok-Campeau Syndrome	Joint laxity, Abnormal foot morphology, Taurodontia, High palate, Widely spaced teeth, Attention ...	OMIM:618205
Cardiofaciocutaneous Syndrome 3	Wide mouth, Failure to thrive, Reduced bone mineral density	OMIM:615279
Central Diabetes Insipidus	Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus	ORPHA:178029
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Short stature	ORPHA:1858
Enamel-Renal Syndrome	Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ...	ORPHA:1031
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Hypohidrosis, Marked delay in eruption of permanent teeth, Ye...	OMIM:104570
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Impulsivity, Micrognathia, Tapered finger, High, narro...	OMIM:619312
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Hypophosphatemia, Failure to thrive, Metaphyseal ...	OMIM:239200
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Joint laxity, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressiv...	ORPHA:449291
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Anemia, Oral mucosal blisters	ORPHA:79405
Gm1 Gangliosidosis	Mandibular prognathia, Camptodactyly of finger, Joint stiffness, Splenomegaly, Gingival overgrowt...	ORPHA:354
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Decreased circulating IgG lev...	ORPHA:508533
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Growth...	ORPHA:99812
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Cryptorchidism, 2-3 toe cutaneous syndactyly, Repetitive compulsive b...	OMIM:300260
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Joint hyper...	OMIM:278250
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Malar prominence, Abnormality of the dentition, Split hand, Talipes equinovarus,...	OMIM:604168
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353277
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Thrombo...	OMIM:226300
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, High ...	OMIM:620242
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of t...	OMIM:277600
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Craniosynostosis, Long fingers, Downturned corners of mouth, Self-inju...	OMIM:613174
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Micrognathi...	ORPHA:280365
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri...	OMIM:618278
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S...	OMIM:614188
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Pes planus, Thin upper lip vermilion, Arachnodactyly, Sandal gap, Flexion contracture, High palat...	OMIM:617146
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Micrognathia, Knee flexion c...	ORPHA:284417
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Increased circulating IgE level	OMIM:616069
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ...	OMIM:619377
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Arachnodactyly, Abnormal repetitive mannerisms, Attention deficit hyperactivity di...	OMIM:617600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Smooth philtrum, Dental crowding, Micrognathia, Long fingers, Thin vermilion border, Bilateral ta...	OMIM:618343
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia, Anemia	OMIM:226670
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Increased circulating antibody le...	ORPHA:77261
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe cutaneous ...	OMIM:600920
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Aggres...	OMIM:617799
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo...	ORPHA:79500
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Rocker bottom foot, Impulsivity, Aggressive behavior, Micrognathia, Abnormality of...	ORPHA:363528
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Overlapping toe, Tapered finger, Flexion contracture, High palate, Tali...	OMIM:617452
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia, Equinus calcaneus	ORPHA:746
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Distal joint laxity, Flexion contracture, Hip dislocation, Hyperextensibility at wr...	OMIM:254090
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Anemia, Neutropenia	OMIM:604250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Impulsivity, Tapered finger, Aggressive behavior, Hip dislocation, N...	OMIM:619435
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Pes cavus	OMIM:601596
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Joint hypermobility	OMIM:617662
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f...	OMIM:163200
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Congenital hip dislocation, Cleft palate, Euthyroid goiter, Hi...	OMIM:113650
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Cleft pala...	ORPHA:1318
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Hepatitis, Hypohidrosis, Thick vermilion border, Enamel hypoplasia	ORPHA:363523
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename...	ORPHA:139474
Yellow Fever	Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Jaundice, Le...	ORPHA:99829
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg...	ORPHA:84064
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Hypoplastic iliac wing, Abno...	ORPHA:93315
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Broad femoral neck, Thick lower lip vermilion, ...	OMIM:619727
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Single transverse palmar creas...	OMIM:611209
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples, Failure to thrive	ORPHA:1231
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormal mandible morphology, Dysphagia, Weight loss,...	ORPHA:93958
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
5Q14.3 Microdeletion Syndrome	Open mouth, Toe syndactyly, Abnormal repetitive mannerisms, Short philtrum	ORPHA:228384
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Growth del...	OMIM:615895
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Tented upper lip ...	OMIM:615546
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide anterior fontanel, Cl...	OMIM:617925
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Flat...	OMIM:618870
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival...	OMIM:618529
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Coxa valga, Thick lowe...	OMIM:619297
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocell...	ORPHA:65682
Microhydranencephaly	Self-mutilation, Multiple joint contractures, Talipes equinovarus	OMIM:605013
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e...	ORPHA:1784
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Joint stiffness, Talipes equinovarus, Dysphagia, Arthrogryposis multi...	OMIM:614961
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,...	OMIM:210900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of...	OMIM:271665
Velocardiofacial Syndrome	Impaired T cell function, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin...	OMIM:192430
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Abnormal repetitive mannerisms	OMIM:617802
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Joint stiffness, Coxa valga, G...	OMIM:253010
Riddle Syndrome	Decreased circulating IgG level, Short stature	OMIM:611943
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin re...	ORPHA:528
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Supernumerary n...	ORPHA:217346
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pes planus, Thin upper lip vermilion, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly, F...	OMIM:620029
Intellectual Developmental Disorder, Autosomal Dominant 34	2-3 toe syndactyly, Short foot, Widely spaced teeth, Bruxism, Abnormal repetitive mannerisms, Smo...	OMIM:616351
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Metatarsus adductus, Short toe...	ORPHA:3041
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin...	ORPHA:79474
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Xq28 (MECP2) duplication	Narrow mouth, Dysphagia, Malar flattening, Failure to thrive, Abnormal repetitive mannerisms	DECIPHER:45
Dystonia, Dopa-Responsive	Pes cavus, Talipes equinovarus	OMIM:128230
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Supernumerary nipple, Tracheomalacia, Small ...	ORPHA:1001
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Neuronal Intestinal Pseudoobstruction	Natal tooth, Decreased circulating antibody level	ORPHA:99811
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Mirage Syndrome	Short stature, Cryptorchidism, Anemia, Leukopenia, Decreased body weight, Intrauterine growth ret...	OMIM:617053
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Hypertrichosis Cubiti	Joint hyperflexibility, Rhizomelia, Micromelia	ORPHA:2220
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Anemia, Oral mucosal blisters	ORPHA:79411
Cowden Syndrome	Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit...	ORPHA:201
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes equinovarus, Retrognathia	OMIM:618022
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Hypoglycemic seizures, Downturned corners of mouth, Short ph...	OMIM:616364
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Weight loss, Decreased circulating total IgM, Decreas...	ORPHA:420741
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,...	ORPHA:90003
Foxg1 Syndrome	Bruxism, Decreased body weight, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, St...	ORPHA:561854
Noonan Syndrome 12	Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia	OMIM:618624
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Coxa vara, Cleft palate, Bifid uv...	OMIM:183900
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholecystitis, Abnormal repetitive mannerisms, Broad metacarpals, Hepatomegaly, Tapered finger, P...	OMIM:301066
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, D...	OMIM:619121
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Adnp Syndrome	Oral-pharyngeal dysphagia, Abnormal finger morphology, Compulsive behaviors, Advanced eruption of...	ORPHA:404448
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi...	ORPHA:177907
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration, Microangiopathic ...	ORPHA:93552
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy...	ORPHA:2655
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,...	OMIM:618019
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Lymphopenia, ...	OMIM:617425
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome...	ORPHA:818
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High...	ORPHA:199
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Carious teeth, Cryptorchidism,...	ORPHA:2834
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia...	OMIM:601559
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp...	OMIM:607944
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyl...	OMIM:617822
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu...	ORPHA:75233
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Lower limb asymmetry, Flexion contracture, Neonatal epiphyseal sti...	ORPHA:35173
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten...	ORPHA:86818
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
Glutamine Deficiency, Congenital	Hypoglutaminemia, Micromelia, Flexion contracture, Hyperammonemia, Thin vermilion border, Camptod...	OMIM:610015
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Everted lower lip vermilion, Talipes equinovarus, Clinodactyly, Open mouth	OMIM:616789
Rapp-Hodgkin Syndrome	Syndactyly, Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 ...	OMIM:129400
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone stimulation tes...	ORPHA:293978
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip	OMIM:613885
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Aspergillosis	Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia	ORPHA:1163
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu...	ORPHA:298
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Cleft palate, Radioulnar synosto...	OMIM:248700
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Weight loss, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Palmoplantar hyperhidrosis, Advanced eruption of teeth, Failure t...	ORPHA:2309
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Insulin resistance, Odontogenic ...	ORPHA:199276
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Abse...	OMIM:307200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Dental crowding, Persistence of primary teeth	OMIM:619769
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi...	ORPHA:35878
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ...	ORPHA:227990
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Osteoporosis, Glucose intolerance, Abnormality of the liver, ...	ORPHA:254892
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, H...	OMIM:269860
Adrenomyodystrophy	Failure to thrive, Reduced bone mineral density	ORPHA:977
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Takayasu Arteritis	Anorexia, Weight loss, Hyperhidrosis, Arthritis, Anemia	ORPHA:3287
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Arachnodactyly, Craniosynostosis, Microgna...	OMIM:182212
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple...	OMIM:615846
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Elbow flexion con...	OMIM:608328
Prolidase Deficiency	Arachnodactyly, Micrognathia, Carious teeth, Genu valgum, Reduced bone mineral density, Hypoplasi...	ORPHA:742
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Hepatitis, Biliary...	ORPHA:227982
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Abnormal repetitive mannerisms, Short philtrum	ORPHA:85277
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplas...	OMIM:261540
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syn...	ORPHA:96201
Donohue Syndrome	Precocious puberty, Thick lower lip vermilion, Hyperinsulinemia, Gingival overgrowth, Cholestasis...	OMIM:246200
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Self-injurious behavior, Widel...	OMIM:618004
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus	ORPHA:401815
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Pes planus, Thin upper lip vermilion, Sandal gap, Abnormal foot morphology, Decreas...	ORPHA:477817
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormality of the...	ORPHA:356961
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Diabetes mellitus, Cryptorchidism, Short 5th finger, Tracheobronchomalacia, Abnorma...	ORPHA:500159
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero...	OMIM:608022
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat...	OMIM:618874
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor, Hypohidrosis	OMIM:602400
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef...	ORPHA:261236
Acromesomelic Dysplasia 4	Mandibular prognathia, Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Promin...	OMIM:619636
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Oligo...	OMIM:308300
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis...	OMIM:620292
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly...	OMIM:305600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Pulp calcification, Ta...	OMIM:211900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Deep philtrum, Macroglossia, Long philtrum, High palate, Talipes equinovarus, Th...	ORPHA:397709
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contracture, Long phil...	OMIM:608149
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Brachydactyly, Microretrognathia, Proximal placement of thumb, Talipes eq...	OMIM:615789
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Rahman Syndrome	Talipes equinovarus, Camptodactyly	OMIM:617537
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Abnormality of the dentition, Osteoporosis, Obesity, Reduced bone mineral de...	ORPHA:2235
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Talipes equinovarus, Tapered finger	OMIM:617219
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mout...	ORPHA:314679
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem...	ORPHA:3337
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Congenital Muscular Dystrophy Due To Lmna Mutation	Joint hyperflexibility, Cachexia, Flexion contracture, Limitation of joint mobility	ORPHA:157973
Scarf Syndrome	Craniosynostosis, Cryptorchidism, Hepatocellular adenoma, Joint hyperflexibility, Short sternum, ...	ORPHA:3134
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major muscle, Pierre-Ro...	ORPHA:1358
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ...	ORPHA:86822
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Talipes equinovalgus, Post...	OMIM:301056
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol...	OMIM:612651
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Increased circulating IgE level, Short stature, Obesity	ORPHA:3409
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Increased serum pyruvate, Small for gestational age	ORPHA:79243
Distal Deletion 6P	Micrognathia, Abnormality of the dentition, Orofacial cleft, Short foot, Self-injurious behavior,...	ORPHA:96125
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, High, narrow pala...	ORPHA:488632
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Precocious puberty, Wide mouth, Widely spaced teeth, Abnormal repetitiv...	OMIM:619877
46,Xx Gonadal Dysgenesis	Osteopenia, Osteoporosis of vertebrae, Arachnodactyly, Reduced bone mineral density	ORPHA:243
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Teeth Present At Birth	Natal tooth	OMIM:187050
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Deep philtrum, High palate, Open mouth, Retrogna...	ORPHA:1675
Richards-Rundle Syndrome	Reduced bone mineral density, Joint stiffness	ORPHA:1399
Cockayne Syndrome	Hepatomegaly, Anhidrosis, Diabetes mellitus, Abnormal dental morphology, Delayed eruption of prim...	ORPHA:191
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat...	ORPHA:355
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes planus, Areflexia of lower limbs, Talipes equinovarus, Hyporeflexia of lower limbs, Pes cavus	OMIM:256850
Eosinophilic Fasciitis	Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormality of the tongue, Weight loss, Increased susceptibility to fractures, Attention deficit ...	ORPHA:216866
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Deep philtrum,...	OMIM:612530
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymphadenopathy, Chron...	ORPHA:289390
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Abn...	OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Joint hyperflexibility, Narrow pelvis bone, Truncal obesity, Tooth agenesi...	ORPHA:2637
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Broad hall...	OMIM:154400
Geleophysic Dysplasia 1	Osteopenia, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of the capital femor...	OMIM:231050
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure...	OMIM:617718
49,Xxxyy Syndrome	Mandibular prognathia, Micrognathia, Finger clinodactyly, Bilateral talipes equinovarus, Abnormal...	ORPHA:261534
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Absent frontal s...	OMIM:301040
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Pitt-Hopkins Syndrome	Short fourth metatarsal, Single transverse palmar crease, Deep philtrum, Narrow foot, Short philt...	OMIM:610954
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Micrognathia, Macr...	OMIM:619775
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Micrognathia, Tapered finger, Cryptorchidism, ...	ORPHA:251071
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Loeys-Dietz Syndrome 4	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, High, narrow palate, Joint hyperfl...	OMIM:614816
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Cryptorchidism, ...	OMIM:619005
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, High palate, Talipes equin...	OMIM:617022
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Glucagonoma	Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev...	ORPHA:97280
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Cleft upper lip, Abnormal soft palate m...	ORPHA:138
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Toe syndactyly, Bilateral camptodactyly, Oligodontia, Talipes equinovarus, Long hal...	OMIM:619234
Kleine-Levin Syndrome	Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali...	ORPHA:33543
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live...	ORPHA:97282
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h...	OMIM:181405
Riboflavin Transporter Deficiency	Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus	ORPHA:97229
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:3386
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi...	OMIM:602875
Huntington Disease-Like 1	Abnormal shoulder morphology, Restlessness, Weight loss	ORPHA:157941
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Hepatomegaly, Complement deficiency, Lymphadenopathy	ORPHA:36412
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteo...	OMIM:619487
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Single transverse palmar crease, Hip dislocation, Gingival overgrowth, Long philtru...	OMIM:619428
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Tapered finger, Micrognathia, Protruding tongue, Wide mouth, High pal...	OMIM:618580
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus, Tongue fasciculations, Micrognathia	ORPHA:544469
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Talipes equi...	OMIM:617821
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S...	OMIM:619418
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Abnormality of the dentition...	ORPHA:93
Chromosome 18Q Deletion Syndrome	Joint laxity, Pes planus, Mandibular prognathia, Toe syndactyly, Overlapping toe, Rocker bottom f...	OMIM:601808
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Ab...	ORPHA:411986
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97283
Rett Syndrome	Cachexia, Abnormality of the dentition, Short foot, Bruxism, Stereotypical hand wringing	OMIM:312750
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Thick vermilion...	OMIM:617809
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Joint hyperflexibility, Hand polydactyly, High ...	ORPHA:250989
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Compulsive behavior...	OMIM:135900
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, High palate, Short philtrum, Everted lower ...	OMIM:616579
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Autosomal Recessive Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus	ORPHA:101150
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ...	OMIM:271640
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Hyperhidrosis, Conical incisor, Hypohi...	OMIM:257980
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm...	ORPHA:143
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, ...	OMIM:123790
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy	ORPHA:52417
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Hip dislocation, Talipes equinovarus, Narrow mouth, Joint hypermobili...	OMIM:219150
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Micrognathia, ...	ORPHA:140
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Thanatophoric Dysplasia Type 2	Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,...	ORPHA:93274
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow disloc...	OMIM:150250
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met...	OMIM:272950
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Long fingers, Cutaneou...	OMIM:620330
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Obesity, Cleft palate, Hand polydactyly, Attention deficit hypera...	ORPHA:261197
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multiple enchondromatosis, Hammertoe, Multinodular goiter, Micrognathia	OMIM:620189
Inflammatory Bowel Disease (Crohn Disease) 1	Aphthous ulcer, Recurrent aphthous stomatitis, Weight loss	OMIM:266600
Rett Syndrome, Congenital Variant	Pes planus, Thin upper lip vermilion, Tongue thrusting, Talipes equinovarus, Bruxism, Abnormal re...	OMIM:613454
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I...	ORPHA:183675
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus, High palate	ORPHA:59135
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Malar flattening, Talipes equinovarus, Narrow mouth	OMIM:177980
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Compulsive behavi...	ORPHA:2044
Caudal Regression Syndrome	Impulsivity, Joint stiffness, Orofacial cleft, Talipes equinovarus, Abnormal vertebral segmentati...	ORPHA:3027
Pearson Syndrome	Small for gestational age, Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Bone marrow hy...	ORPHA:699
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Failure to thrive, Arachnodactyly, Dental crowding, Supernumerary nippl...	OMIM:615485
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto...	OMIM:251260
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Rheumatoid arthritis, In...	OMIM:180300
Phelan-Mcdermid Syndrome	Micrognathia, Aggressive behavior, Tongue thrusting, Dental malocclusion, 2-3 toe syndactyly, Bru...	OMIM:606232
Nail-Patella Syndrome	Pes planus, Biceps aplasia, Cleft upper lip, Triceps aplasia, Patellar aplasia, Quadriceps aplasi...	OMIM:161200
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Lissencephaly 8	Talipes equinovarus	OMIM:617255
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Sh...	OMIM:619841
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Large for gestational age, Hypop...	ORPHA:96334
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Talipes equinovarus, Narrow mouth, Malar flat...	OMIM:224410
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Cutaneous finger s...	OMIM:224690
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Leuko...	ORPHA:809
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Micrognathia, Trismus, Flexion contracture, Pierre-Robin sequence, Cleft palate, ...	OMIM:254940
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Isotretinoin-Like Syndrome	Hypocalcemia, Cleft palate, Micrognathia	ORPHA:2306
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia	ORPHA:251393
Gitelman Syndrome	Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism, Fai...	ORPHA:358
Oculocerebral Hypopigmentation Syndrome, Preus Type	High palate, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, P...	ORPHA:83617
Lymphatic Filariasis	Orchitis, Lymphadenitis, Circulating immune complexes, Abnormality of the lymphatic system, Hyper...	ORPHA:2035
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Aggress...	ORPHA:457279
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Downturned corners of mouth, Congenital contracture, Hi...	ORPHA:168572
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Cleft palate, Thick vermilion border, High palate, Talipes equinovarus,...	OMIM:619493
Beta-Thalassemia	Abnormality of iron homeostasis, Reduced bone mineral density	ORPHA:848
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Clinodactyly of the...	ORPHA:904
Atelis Syndrome 2	Micrognathia, Diastema, Thick lower lip vermilion, Elevated circulating thyroid-stimulating hormo...	OMIM:620185
Monosomy 13Q34	Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly	ORPHA:96168
Saul-Wilson Syndrome	Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathia, Short metatarsal,...	OMIM:618150
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis...	ORPHA:171876
Pallister-Hall Syndrome	Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Bifid uvula, Paroxysmal b...	ORPHA:672
Pelviscapular Dysplasia	Short femur, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Trichohepatoenteric Syndrome 1	Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Abnormali...	OMIM:222470
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Small for gestational age, Short stature, Microcytic anemia, T lymphocy...	ORPHA:2959
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Talipes equinovarus, Adducted thumb	OMIM:616603
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr...	ORPHA:228119
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Talipes equinovarus...	ORPHA:98808
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Tapered finger, Micrognathia, Wide mouth, Macroglossia, High ...	OMIM:614501
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Wide a...	OMIM:275210
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, High, nar...	ORPHA:2879
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Intellectual Developmental Disorder, Autosomal Recessive 71	Increased overbite, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Loeys-Dietz Syndrome 5	Smooth philtrum, Pes planus, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft ...	OMIM:615582
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Premature loss o...	OMIM:164200
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Increased circulating IgE level	OMIM:614328
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Hypothyroid...	OMIM:606170
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatit...	ORPHA:39812
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Failure to t...	OMIM:615802
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Cleft palate, ...	ORPHA:2021
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Talipes equinov...	OMIM:214110
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur...	OMIM:259050
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Micrognathia, M...	OMIM:214100
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight, Juvenile ...	OMIM:266270
Huntington Disease-Like 2	Weight loss	OMIM:606438
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosple...	ORPHA:470
Yao Syndrome	Arthritis, Xerostomia, Oral ulcer, Weight loss	OMIM:617321
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Supernumerary tooth, Osteoporosis, Failure to thrive, Ankyloglossia	OMIM:619525
X-Linked Creatine Transporter Deficiency	Hyperactivity, Cachexia, Joint hyperflexibility, Malar flattening, Open mouth, Self-mutilation	ORPHA:52503
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Joint stiffness, Abnormality of the dentition, Flexion contracture, T...	ORPHA:847
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide...	OMIM:619103
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased response to growth ho...	OMIM:615577
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Pseudobulbar paralysis, High palate, Talipes ...	OMIM:618651
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Repetitive compulsive behavior, A...	ORPHA:513456
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr...	ORPHA:79329
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:352665
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Scapular winging, Limited wrist extension, Hand m...	ORPHA:98915
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Proximal placement of thumb, Narrow palate, Deep palmar crease, Long philtrum, High palate, Talip...	OMIM:604314
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Broad hallux, Aplasia of th...	OMIM:620186
Charcot-Marie-Tooth Disease, Type 4D	Pes cavus, Talipes cavus equinovarus, Claw hand deformity, Hammertoe	OMIM:601455
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Micrognathia, Flexion contracture, Elbow flexion contracture, Hip dislocation...	OMIM:618947
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, Repe...	ORPHA:522077
Jaberi-Elahi Syndrome	Joint stiffness, Talipes equinovarus, Hand clenching, Triangular mouth, Joint hypermobility	OMIM:617988
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Xerostomia, Widely spaced teeth...	OMIM:620193
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Protruding tongue, Tongue thrusting, Attention deficit hyperact...	OMIM:619580
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pes planus, Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosyn...	OMIM:213980
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Hyperactivity, Tracheobronchomalacia, Abnormal repetitive mannerisms, Open mouth	OMIM:617751
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os...	OMIM:277900
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Clinodactyly of the 5th finger, Short ...	OMIM:274000
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Congenital Disorder Of Glycosylation, Type Ih	Long philtrum, Talipes equinovarus, Camptodactyly	OMIM:608104
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Short philtrum	OMIM:617337
Focal Myositis	Limitation of joint mobility, Weight loss	ORPHA:48918
Houge-Janssens Syndrome 3	Single transverse palmar crease, Self-injurious behavior, High palate, Short philtrum, Attention ...	OMIM:618354
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Weight loss, Agitation, Oral aversion, Thromb...	ORPHA:134
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Tapered finger, Abnormal limb bone morphology, Hip dislocation, Thin v...	ORPHA:261311
Eosinophilic Gastroenteritis	Eosinophilia, Leukocytosis, Weight loss, Dysphagia, Anemia	ORPHA:2070
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia	ORPHA:99880
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia,...	OMIM:616503
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia, Weight loss	ORPHA:1302
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Cachexia, Anorexia, Abnormality of the thyroid gland, Short hard palate, Genu ...	ORPHA:1969
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Talipes equinovarus, Craniosynostosis, Micrognathia	OMIM:601374
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Anorexia, Precocious puberty, Jaundice, Ovarian neoplasm, Weight loss, ...	ORPHA:370348
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a...	ORPHA:85443
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo...	OMIM:160980
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Dysphagia, Narrow mouth, Enamel hypoplasia, Anemia	OMIM:226600
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypo...	ORPHA:95409
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms, Narrow mouth	OMIM:619317
Optic Atrophy 11	Hyperactivity, Stereotypical body rocking, Bilateral talipes equinovarus, Attention deficit hyper...	OMIM:617302
Tetrasomy 5P	Overlapping toe, Short hallux, Micrognathia, Long fingers, High palate, Talipes equinovarus, Long...	ORPHA:3309
Whipple Disease	Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Arthritis, Polydipsia, Hypoth...	ORPHA:3452
Spastic Paraplegia 51, Autosomal Recessive	Wide mouth, Flexion contracture, Short philtrum, Talipes equinovarus	OMIM:613744
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Pes planus, Distal joint laxity, Generalized joint laxity, High, narrow palate, Osteo...	ORPHA:1900
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Abnormal foot morpholo...	ORPHA:268261
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperactivity, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis	ORPHA:363400
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agen...	OMIM:616894
Monosomy 18Q	Mandibular prognathia, Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finge...	ORPHA:1600
22Q11.2 Duplication Syndrome	Micrognathia, Cleft palate, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnor...	ORPHA:1727
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex...	ORPHA:97278
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft...	ORPHA:2189
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Short philtrum, High palate, Abnormal repetitive mannerisms...	ORPHA:96121
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Hypohidrosis, Breast aplasia, Type I dia...	ORPHA:2036
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261537
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Recurrent fractures, Abnormality of ne...	ORPHA:1775
Renal Hypodysplasia/Aplasia 1	Retrognathia, Talipes equinovarus	OMIM:191830
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Short stature, Thrombocytopenia, Lymphadenopathy...	ORPHA:333
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Hyperextensibility at elbow, Hyperactivity, Decreased response to growt...	ORPHA:319182
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Bronchial Neuroendocrine Tumor	Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ...	ORPHA:97287
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Overlapping toe, Dental crowding, Macroglossia, Hip dislocation, Absent Achilles re...	OMIM:618268
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylos...	ORPHA:95699
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Alg8-Cdg	Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Anemia, Oral mucosal blisters	ORPHA:79409
Secondary Short Bowel Syndrome	Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly...	ORPHA:95427
Trisomy 10P	Thumb contracture, Abnormality of the hand, Micrognathia, Abnormal foot morphology, Short toe, Dy...	ORPHA:171929
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Flexion contracture, Cleft palate, Talipes equinovar...	OMIM:619124
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsulinemia...	OMIM:613327
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Cleft palate, Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Congenital contracture, Arachnodactyly, Talipes equinovarus, Micrognathia	OMIM:619036
Grfoma	Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase...	ORPHA:97261
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Hyperactivity, Congenital hip dislocation, Exaggerated cupid's bow, Microg...	OMIM:619512
Microsporidiosis	Brain abscess, Sinusitis, Osteomyelitis, Cholangitis, Cachexia, Anorexia, Abnormality of the sple...	ORPHA:2552
Mosaic Trisomy 9	Camptodactyly of finger, Micromelia, Rocker bottom foot, Elbow dislocation, Micrognathia, Limitat...	ORPHA:99776
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Hashimoto thyroiditis, Micrognathia, Cachexia, Narr...	ORPHA:109
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Marburg Hemorrhagic Fever	Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, Leuk...	ORPHA:99826
Liver Disease, Severe Congenital	Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, I...	OMIM:619991
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,...	ORPHA:536
Mucolipidosis Type Ii	Hip contracture, Craniosynostosis, Limited wrist movement, Splenomegaly, Limitation of joint mobi...	ORPHA:576
9Q33.3Q34.11 Microdeletion Syndrome	Single transverse palmar crease, Narrow mouth, Patellar aplasia, Tented philtrum, Patellar hypopl...	ORPHA:495818
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol...	OMIM:604367
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia	ORPHA:1765
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Abnormal oral cavity morphology	ORPHA:704
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Meckel Syndrome, Type 1	Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malfo...	OMIM:249000
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand...	OMIM:252500
Idiopathic Bronchiectasis	Clubbing, Cachexia	ORPHA:60033
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Macroglossia, Everted lower lip vermilion, Abn...	ORPHA:261144
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Enamel hypoplasia, Anemia, Oral mucosal blisters	ORPHA:79410
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Talipes equinovarus, Camptodactyly of finger	OMIM:604320
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre...	OMIM:613070
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Bilateral Polymicrogyria	Micrognathia, Wide mouth, Pseudobulbar paralysis, Talipes equinovarus, Difficulty in tongue movem...	ORPHA:268940
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Downturned corners ...	ORPHA:99885
Mucopolysaccharidosis, Type Vii	Joint stiffness, Metatarsus adductus, Flexion contracture, Limitation of joint mobility, Gingival...	OMIM:253220
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Holocarboxylase Synthetase Deficiency	Anorexia, Thrombocytopenia, Weight loss	ORPHA:79242
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Retroperitone...	OMIM:602782
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:2152
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Anorexia, Leukocytosis, Jaundice, Lipi...	ORPHA:20
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Aggressive behavior, Attention deficit hyperactivity disorder, Malar flatt...	OMIM:300352
Werner Syndrome	Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Hyperhidrosis	ORPHA:99868
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia	ORPHA:79107
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Hepatic steatosis	ORPHA:42
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Smooth philtrum, Thin upper lip vermilion, Failure to t...	ORPHA:261323
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight loss, Iron deficiency anemia, Pa...	ORPHA:100075
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Sple...	ORPHA:53035
Schisis Association	Cleft palate, Small for gestational age, Micromelia, Unilateral cleft lip	ORPHA:63862
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Thyroid C cell hyperplasia, Abnormal tongue morphol...	ORPHA:653
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:144
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Postaxial hand po...	ORPHA:2166
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose intolerance,...	ORPHA:881
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Abnormal repetitive ...	OMIM:309590
Acromelic Frontonasal Dysplasia	Median cleft lip, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial foot polydactyly...	ORPHA:1827
Distal Deletion 15Q	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Abnormality of the denti...	ORPHA:1596
Scarf Syndrome	Cryptorchidism, Coronal craniosynostosis, Short sternum, Hypoplastic nipples, Lambdoidal craniosy...	OMIM:312830
Digeorge Syndrome	Impaired T cell function, Micrognathia, High, narrow palate, Obesity, Cleft palate, High palate, ...	OMIM:188400
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo...	ORPHA:100080
Lathosterolosis	Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Gingival overgrowth, Post...	OMIM:607330
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Lymphopenia, Anemia	OMIM:620365
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Craniosynostosis, Micrognathia, Cleft lip, Cryptorchidism, Cleft p...	ORPHA:2745
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S...	ORPHA:3455
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Overlapping toe, Small for gestational age, Severe periodontitis, Protrudi...	ORPHA:99843
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Netherton Syndrome	Increased circulating IgE level, Short stature, Decreased circulating antibody level	ORPHA:634
Hijazi-Reis Syndrome	Ankle clonus, Abnormal repetitive mannerisms	OMIM:301094
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Small hand,...	OMIM:619777
Say-Barber-Miller Syndrome	Short stature, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased circulating ...	ORPHA:3132
H Syndrome	Short stature, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Delayed puberty, Decreased...	ORPHA:168569
Tooth Agenesis, Selective, 4	Abnormality of primary teeth, Hypohidrosis, Agenesis of permanent teeth, Tooth agenesis, Palmopla...	OMIM:150400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261552
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Failure to thrive, Abnormal repetitive mannerisms, Agitation	ORPHA:927
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Stippled calcification in carpal bones, ...	OMIM:302960
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Long philtrum, Failure to thrive, Adducted thumb	ORPHA:50810
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Abnormal repetitive m...	OMIM:194190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency...	OMIM:301074
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Weight loss, Tongue pain, Mandibular pain, Abnormal palate morphology	ORPHA:221098
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna...	OMIM:263650
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Knee flexion contracture	ORPHA:3208
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyp...	OMIM:243800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased ...	ORPHA:247598
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Velopharyngea...	OMIM:617746
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:440437
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Reduced bone mineral density, S...	ORPHA:1556
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Congenital Tufting Enteropathy	Orofacial cleft, Weight loss, Arthritis, Cholestatic liver disease, Failure to thrive	ORPHA:92050
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Dental crowding, Ankle flexion contracture, Microgna...	ORPHA:2020
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Thin vermilion border, Hypoplasia of the zygoma...	OMIM:614800
Giant Cell Arteritis	Diabetes insipidus, Anorexia, Joint stiffness, Hyperhidrosis, Weight loss, Arthritis, Glossitis	ORPHA:397
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Anorexia, Intermittent jaundice, W...	ORPHA:100085
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Broad hallux, Tapered finger, Micrognathia, Short thumb, Wide mouth, Bilateral talipe...	OMIM:620224
Carney Triad	Mediastinal lymphadenopathy, Pheochromocytoma, Anemia, Lymphadenopathy	ORPHA:139411
Rett Syndrome	Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris...	ORPHA:778
Congenital Varicella Syndrome	Micromelia	ORPHA:291
White-Sutton Syndrome	Joint laxity, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Obesity, Downturned c...	ORPHA:468678
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl...	OMIM:613610
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Failure to thriv...	OMIM:212065
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Abnormal fingertip morphology	ORPHA:529965
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Short philtrum, Abnormal repetiti...	OMIM:300486
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Failure to thrive in infancy, Hypercalcemia, Down-slopin...	OMIM:194050
Combined Oxidative Phosphorylation Deficiency 55	Single transverse palmar crease, High palate, Talipes equinovarus, Hypophosphatemic rickets, Open...	OMIM:619743
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Rocker ...	OMIM:208150
Ménétrier Disease	Anorexia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Micrognathia, Fractures of the long bones, Widely spaced teeth, Dysph...	ORPHA:496641
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Failure to thrive, Congenital hip dislocation, Limb joint contracture, Small for gestational age,...	ORPHA:404454
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Split hand, Hammertoe, High palate, Talipes equinovarus, Long philtrum,...	OMIM:261515
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, U...	ORPHA:1101
Sotos Syndrome	Joint laxity, Hip contracture, Ankle flexion contracture, Abnormality of the dentition, Craniosyn...	ORPHA:821
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Increa...	ORPHA:90794
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Flared metaphysis, Cleft palate, Talipes equinovarus, Brach...	ORPHA:2347
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Palmoplantar hyperhidrosis, Angular cheilitis	OMIM:167210
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c...	ORPHA:91500
Prune Belly Syndrome	Congenital hip dislocation, Talipes equinovarus	OMIM:100100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Camptodactyly of finger, A...	ORPHA:468631
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo...	ORPHA:100082
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Cleft u...	OMIM:214800
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Dental crowding, Arachnodactyly, Protrusio acetabuli, Micrognat...	ORPHA:558
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Generalized joint laxity, Hypermobility of interphalangeal j...	ORPHA:508498
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Eosinophilia, Weight loss, Arthritis, Dysphagia	ORPHA:183
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr...	OMIM:250250
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Short philtrum, Talipes equinovarus, Hy...	OMIM:613603
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Recurr...	ORPHA:29207
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central...	OMIM:309580
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Irregular tarsal bones, Delayed e...	OMIM:250220
Galloway-Mowat Syndrome 1	Micrognathia, Wide mouth, High palate, Talipes equinovarus, Camptodactyly, Hand clenching, Joint ...	OMIM:251300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Limited hip extension, Flexion contracture, High palate, Talipes equinovarus, Hand clenching, Ope...	OMIM:614653
Acrodermatitis Enteropathica	Anorexia, Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight loss, Failure to thrive, ...	ORPHA:37
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mandibular prognathia, Craniosynostosis, Joint stiffness, Cranial hyper...	ORPHA:309282
Restrictive Dermopathy	Osteopenia, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple joint contractures, Campto...	ORPHA:1662
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Premature loss of teeth, Multinodular goiter	OMIM:618373
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexi...	OMIM:614976
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Micrognathia, Metatarsus adductus, Small hand, Genu valgum, Short foot, High palate...	ORPHA:300570
Prune Belly Syndrome	Congenital hip dislocation, Talipes equinovarus	ORPHA:2970
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Obesity, Hip dysplasia, Limb undergrowth, Clinodactyly of the 5th fin...	ORPHA:319675
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micr...	ORPHA:536545
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Cystic angiomatosis o...	OMIM:608594
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Campto...	OMIM:601803
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Short stature	ORPHA:1493
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, Tics, Short philtrum, Compulsive behaviors,...	OMIM:619475
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Elevated he...	OMIM:269700
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Pes planus, Mandibular prognathia, Overlapping toe, Dental crowding, Hypoplasia of ...	OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Thin upper lip vermilion, Oral-pharyngeal dysphagia, High, narrow ...	OMIM:300966
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Perry Syndrome	Weight loss	ORPHA:178509
Rat-Bite Fever	Oligoarthritis, Weight loss, Anemia, Arthritis, Septic arthritis, Pancreatitis, Parotitis	ORPHA:31205
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Hip dislocation, Dysphagia	ORPHA:572013
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Truncal obesity, Limb undergrowth, Clinodactyly, Abnormal circulating lipid co...	OMIM:616541
Lymphoid Interstitial Pneumonia	Hepatomegaly, Clubbing, Weight loss, Rheumatoid arthritis, Failure to thrive	ORPHA:79128
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Choreoacanthocytosis	Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Temporomandibular ...	ORPHA:2388
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, High, narrow palate, Clubbing of fingers, Midclavicular hypoplasia, ...	ORPHA:79076
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Aplasia/Hypoplas...	ORPHA:2911
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr...	ORPHA:31150
Mucopolysaccharidosis Type 2	Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splenomegaly, Limitation of joint ...	ORPHA:580
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, High, narrow palate, Head-banging, Self-injurious behavior, Short philtrum, Attention...	OMIM:619575
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Impulsivity, Retrognathia, Downturned corners of mouth, Wide mouth...	OMIM:301030
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Broad hallux, 1-2 toe syndactyly, Talipes, Tapered fin...	OMIM:301044
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Talipes eq...	OMIM:612284
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Radio-Renal Syndrome	Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Downturned corners of mo...	ORPHA:3015
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Knee flexion contracture, Bilateral talipes equinovarus, Dysphagia, Overlapping fin...	OMIM:619708
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Polymyositis	Hepatomegaly, Weight loss, Anorexia, Arthritis	ORPHA:732
Wolf-Hirschhorn Syndrome	Arachnodactyly, Abnormality of the philtrum, Short hallux, Cleft upper lip, Micrognathia, Short t...	ORPHA:280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Widely spaced teeth, High palate, Clinodactyly of the 5th fi...	OMIM:612474
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Pilarowski-Bjornsson Syndrome	Prominent fingertip pads, Abnormal repetitive mannerisms	OMIM:617682
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st...	ORPHA:275761
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Ulnar deviation of the hand, Rhizomelia, Micrognathi...	ORPHA:79328
Trisomy 18	Microretrognathia, Camptodactyly of finger, Cachexia, Cryptorchidism, Postaxial hand polydactyly,...	ORPHA:3380
Cowden Syndrome 7	Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
Autosomal Recessive Spastic Paraplegia Type 55	Arthrogryposis multiplex congenita, Talipes equinovarus, Tibialis muscle weakness	ORPHA:320375
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, High palate, Talipes equinovarus, Stomatitis, Glossitis	OMIM:277380
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi...	OMIM:616263
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Failure to thrive, Anemia	ORPHA:79396
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Single transverse palmar crease, Craniosy...	OMIM:300707
Xfe Progeroid Syndrome	Premature loss of teeth, Failure to thrive, Enamel hypoplasia, Cachexia	OMIM:610965
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Failure to thrive, Increased circulating IgE level	OMIM:615508
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Aggressive behavior, Thick lower lip vermilion, Mesiodens, Narrow mouth, Long philtrum	ORPHA:314647
Tetrasomy 9P	Hyperactivity, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, M...	ORPHA:3310
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Cleft p...	OMIM:609192
Hermansky-Pudlak Syndrome	Weight loss, Abnormal dental enamel morphology, Anorexia, Neutropenia	ORPHA:79430
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Epiphyseal stip...	OMIM:614866
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea...	ORPHA:1606
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Barth Syndrome	Mandibular prognathia, Talipes equinovarus	OMIM:302060
Fatal Familial Insomnia	Weight loss, Dysphagia, Hyperhidrosis	OMIM:600072
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low...	ORPHA:1519
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Neuromuscular Oculoauditory Syndrome	Calf muscle hypertrophy, Wrist flexion contracture, Talipes equinovarus, Knee flexion contracture	OMIM:618733
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Developmental And Epileptic Encephalopathy 2	Tapered finger, Thick lower lip vermilion, Small hand, Short foot, Abnormal repetitive mannerisms	OMIM:300672
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Microvesicular hepatic steatosis, De...	OMIM:300855
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large hands, Abnorma...	ORPHA:500095
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus	OMIM:217100
Hydroxykynureninuria	Stomatitis, Abnormal repetitive mannerisms	ORPHA:79155
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Weight loss, Hydrocele testis, Rheumatoid arthritis, Hashimoto thyro...	ORPHA:49041
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Short phalanx o...	OMIM:600092
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Post...	OMIM:610168
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Obesit...	OMIM:618653
Toxic Epidermal Necrolysis	Dysphagia, Weight loss, Anemia, Neutropenia, Polydipsia, Pancreatitis, Thrombocytopenia	ORPHA:537
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Mult...	ORPHA:464306
Seckel Syndrome 9	Talipes equinovarus, Micrognathia	OMIM:616777
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi...	ORPHA:93271
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Weight loss, T...	ORPHA:71493
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Failure to thrive in infancy, Osteomalacia, Stippled ca...	ORPHA:51608
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Retrognathia, Abnormal repetitive mannerisms, Thrombocytopenia	ORPHA:457351
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Granulomatosis With Polyangiitis	Granulomatosis, Sinusitis, Oral ulcer, Weight loss	OMIM:608710
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Deep philtrum, Wide mouth, Talipes equinovarus, Smooth philtrum	OMIM:617260
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Talipes equinovarus	OMIM:619859
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Cryptorc...	ORPHA:464311
Congenital Analbuminemia	Small for gestational age, Obesity, Increased circulating antibody level	ORPHA:86816
C Syndrome	Toe syndactyly, Failure to thrive in infancy, Micromelia, Micrognathia, Accessory oral frenulum, ...	ORPHA:1308
Stevens-Johnson Syndrome	Abnormality of neutrophils, Thrombocytopenia, Weight loss, Dysphagia, Pancreatitis, Anemia	ORPHA:36426
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:168491
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue histiocytosis, ...	OMIM:607625
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Joint stiffness	ORPHA:702
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Aggressive behavior, Deep philtrum, Clubbing of toes, Short foot, Downturned cor...	ORPHA:163956
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Narrow mouth, Macroglossia, High palate, Mesomelia, Failure to thrive, Hip subluxat...	OMIM:613457
Postinfectious Vasculitis	Viral hepatitis, Increased circulating IgA level, Orchitis, Weight loss, Abnormality of humoral i...	ORPHA:48435
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss, Hepatomegaly	ORPHA:33577
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Cle...	OMIM:263520
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Craniosynostosis, Micromelia	OMIM:200995
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S...	ORPHA:276399
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Deep philtrum, Non-midline cleft lip, Cl...	ORPHA:647
Iniencephaly	Rhizomelia, Rocker bottom foot, Orofacial cleft, Talipes equinovarus, Narrow mouth, Mandibular ap...	ORPHA:63259
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Transketolase Deficiency	Hepatomegaly, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity diso...	ORPHA:488618
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I...	ORPHA:797
Parkinsonian-Pyramidal Syndrome	Talipes equinovarus, Dysphagia	ORPHA:171695
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Failure to ...	ORPHA:47159
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, High palate, Long philtrum, Syndactyly, Shor...	OMIM:619488
Khan-Khan-Katsanis Syndrome	Lymphopenia, Short stature, Neutropenia, Intrauterine growth retardation, Failure to thrive, Anemia	OMIM:618460
Cap Polyposis	Weight loss	ORPHA:160148
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swollen lip, Lon...	OMIM:256520
Polyarteritis Nodosa	Weight loss	ORPHA:767
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Finger syndac...	ORPHA:744
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph...	ORPHA:29072
Liposarcoma	Weight loss	ORPHA:69078
Renal-Hepatic-Pancreatic Dysplasia 2	Talipes equinovarus, Femoral bowing	OMIM:615415
Familial Mediterranean Fever	Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Pancreatitis	ORPHA:342
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Generalized joint laxi...	OMIM:601776
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia	ORPHA:300605
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ...	ORPHA:3404
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Pes planus, Talipes equinovarus, Cleft soft palate	OMIM:614557
Granulomatosis With Polyangiitis	Sinusitis, Prostatitis, Weight loss, Granulomatosis, Abnormal oral cavity morphology, Abnormality...	ORPHA:900
Congenital Myopathy 13	Micrognathia, Flexion contracture, Cleft palate, Downturned corners of mouth, High palate, Bilate...	OMIM:255995
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous ...	OMIM:619325
Carney-Stratakis Syndrome	Dysphagia, Paraganglioma, Weight loss	ORPHA:97286
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small for gestational age, Short stature	OMIM:601675
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Osteoporo...	ORPHA:79404
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Short upper lip, Wide mouth, Cutaneous finger syndactyly, Hypop...	OMIM:200110
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Hypoplastic philtrum, Precocious puberty, Cryptorchidism, Reduced bone mineral d...	OMIM:616682
8P11.2 Deletion Syndrome	High palate, Talipes equinovarus, Micrognathia	ORPHA:251066
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesomelia	OMIM:616482
Viss Syndrome	Short stature, Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG leve...	OMIM:619472
Leprechaunism	Hepatomegaly, Enlarged ovaries, Decreased body weight, Insulin resistance, Hyperinsulinemia, Cent...	ORPHA:508
Phace Association	Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly, Thi...	OMIM:614756
Autoimmune Pulmonary Alveolar Proteinosis	Clubbing, Weight loss	ORPHA:747
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Short palm	ORPHA:3217
Classical Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Abnormality of the temporomandibular joint, Phalangeal dislocation, Abnor...	ORPHA:287
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Fanconi Anemia, Complementation Group L	Micrognathia, Absent radius, Absent thumb, Cleft palate, Bilateral talipes equinovarus, Attention...	OMIM:614083
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Scleromyxedema	Paraproteinemia	ORPHA:167635
Behçet Disease	Anorexia, Orchitis, Splenomegaly, Oral ulcer, Weight loss, Arthritis, Recurrent aphthous stomatit...	ORPHA:117
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Anemia, Hypoglycemia	ORPHA:230
Mowat-Wilson Syndrome	Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Submucous cleft hard palate, Cle...	OMIM:235730
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Hereditary Late-Onset Parkinson Disease	Impulsivity, Agitation, Dysphagia, Weight loss	ORPHA:411602
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegal...	ORPHA:2072
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Aggressive behavior, Cleft upper li...	OMIM:309800
Cutis Laxa, Autosomal Recessive, Type Iid	Hip dislocation, Talipes equinovarus, Camptodactyly, Joint contracture, Retrognathia	OMIM:617403
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Aggressive behavior, Long fingers, Talipes equinovarus, Slender finger, Tib...	OMIM:613355
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, Thick v...	OMIM:312870
Nocardiosis	Brain abscess, Liver abscess, Osteomyelitis, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abn...	ORPHA:31204
Abetalipoproteinemia	Osteopenia, Distal lower limb muscle weakness, Pes cavus, Talipes equinovarus	ORPHA:14
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:617062
Phace Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:42775
Hypotonia, Ataxia, And Delayed Development Syndrome	Thin upper lip vermilion, Tapered finger, Cryptorchidism, Deep philtrum, Thick lower lip vermilio...	OMIM:617330
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Achilles tendon co...	OMIM:218040
Cloacal Exstrophy	Abnormal tibia morphology, Absent foot, Hip dislocation, Abnormal fibula morphology, Talipes equi...	ORPHA:93929
Autosomal Dominant Cutis Laxa	Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Hip dislocation, Talipes calcaneovalgus, T...	ORPHA:90348
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Tapered finger, Carious teeth, Short thumb, Cryptorchidism, Dysphagia, Short foot, Dow...	OMIM:619522
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Weight loss, Clubbing of fingers, Stippled calcification in carpal bones, Testicula...	ORPHA:60025
Juvenile Dermatomyositis	Arthritis, Limitation of joint mobility, Dysphagia, Weight loss	ORPHA:93672
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Dysphagia, Cachexia, Weight loss	OMIM:603041
Loeys-Dietz Syndrome 3	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, ...	OMIM:613795
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th...	OMIM:620025
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Joubert Syndrome 6	Abnormal repetitive mannerisms, Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Blau Syndrome	Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia	ORPHA:90340
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Hypermobility of distal int...	OMIM:130050
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Diabetes mellitus, Decreased response to growth hormone stimulation t...	ORPHA:273
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Hair-pulling, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Neurooculorenal Syndrome	Short hallux, Micrognathia, Talipes equinovarus, Short 1st metacarpal, Broad philtrum	OMIM:620305
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Dysphagia, Weight loss	ORPHA:1018
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stim...	ORPHA:79318
Trichinellosis	Increased circulating IgE level	ORPHA:863
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst...	OMIM:151660
Pheochromocytoma	Hypercalcemia	OMIM:171300
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dysphagia, Weight loss	OMIM:607459
Oculopharyngodistal Myopathy 1	High palate, Dysphagia, Weight loss	OMIM:164310
Cockayne Syndrome Type 3	Hepatomegaly, Carious teeth, Splenomegaly, Flexion contracture, Enamel hypoplasia	ORPHA:90324
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C...	ORPHA:2369
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Renal Agenesis	Talipes equinovarus	ORPHA:411709
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Thin vermilion border, Atte...	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Premature loss of primary teeth, Abnormality of the dentition, Cariou...	ORPHA:286
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Osteomyelitis, Abnormality of the dentit...	ORPHA:2968
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adams-Oliver Syndrome 1	Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachydactyly	OMIM:100300
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ...	ORPHA:64
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
African Trypanosomiasis	Hepatomegaly, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, Jaundice, A...	ORPHA:3385
Peters Plus Syndrome	Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow, Micromelia, Microg...	ORPHA:709
Dermatomyositis	Arthritis, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Chronic Graft Versus Host Disease	Pancytopenia, Anorexia, Flexion contracture, Xerostomia, Weight loss, Arthritis, Dysphagia	ORPHA:99921
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Split Cord Malformation	Pes planus, Lower limb asymmetry, Abnormal foot morphology, Talipes cavus equinovarus, Talipes eq...	ORPHA:573278
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Proportionate short stature, Secretory IgA defi...	ORPHA:500150
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Bilateral talipes equinovarus	OMIM:306955
Oeis Complex	Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Sacral Defect With Anterior Meningocele	Bilateral talipes equinovarus	OMIM:600145
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Agitation, Testicular teratoma, Abnorma...	ORPHA:217253
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly	ORPHA:75565
Penile Agenesis	Bilateral talipes equinovarus	ORPHA:49

Histopathology

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

There is no histopathology data for Tcirg1

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 Tcirg1.

No publications found that use IMPC mice or data for Tcirg1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tcirg1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tcirg1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tcirg1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tcirg1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice, Tissue

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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