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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 (2506 diseases)

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

Disease	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Hypocalc...	OMIM:259700
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Abnorm...	ORPHA:667
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	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	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri...	ORPHA:83451
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened cortex of long bones, Torus pa...	OMIM:607634
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De...	OMIM:611497
Osteosclerotic Metaphyseal Dysplasia	Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase...	OMIM:615198
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Reduced delayed hypersensitivity, Decreased proportion of CD8-po...	OMIM:617241
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u...	ORPHA:3416
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ...	OMIM:601859
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 27A	Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp...	OMIM:209950
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Dentin Dysplasia	Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology	ORPHA:1653
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD...	OMIM:607271
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym...	ORPHA:397596
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Bone marrow...	OMIM:166600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Osseous Heteroplasia, Progressive	Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F...	OMIM:600081
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B...	OMIM:619073
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e...	OMIM:277440
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Hypopituitar...	ORPHA:98813
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Carious teeth, Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Steno...	ORPHA:93324
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple...	OMIM:616005
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Osteoglosphonic Dysplasia	Rhizomelia, Tooth agenesis, Failure to thrive in infancy, Micrognathia, Multiple unerupted teeth,...	ORPHA:2645
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Deep phil...	OMIM:158300
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ...	ORPHA:2501
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level	ORPHA:37748
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno...	OMIM:618495
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Bowing of the legs	ORPHA:89937
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre...	OMIM:146300
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased B cell count, Chronic noninfectious lymphadenopathy, ...	OMIM:603909
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cra...	OMIM:259710
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	ORPHA:169154
Hypophosphatemic Bone Disease	Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs	OMIM:146350
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ...	ORPHA:1423
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Hypocalc...	OMIM:259700
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o...	ORPHA:277
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormality of the dentition, Mandibular osteomyelitis, Abnormal ...	ORPHA:53
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Mueller-Weiss Syndrome	Tibiofibular diastasis, Sclerosis of foot bone, Abnormality of the os naviculare pedis, Tibial to...	ORPHA:566943
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Distal arthrogryposis...	OMIM:614335
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F...	OMIM:241530
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Weight loss, L...	ORPHA:100024
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Hypercholanemia, Familial 1	Steatorrhea, Rickets, Failure to thrive, Increased serum bile acid concentration	OMIM:607748
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Ventriculomegaly And Arthrogryposis	Hand clenching, Micrognathia, Talipes equinovarus, Arthrogryposis multiplex congenita, Ulnar devi...	OMIM:619501
Arthrogryposis, Distal, Type 2E	Joint contracture of the hand, Foot joint contracture, Micrognathia, Narrow mouth, Talipes equino...	OMIM:121070
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bone morphology,...	ORPHA:2204
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet...	ORPHA:63442
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abn...	ORPHA:93160
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Abnormal blood phosphate concentration, Bowing of t...	OMIM:619795
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Failure to thrive, Hypocalcemia	ORPHA:172
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Increased insulin like growth ...	OMIM:619489
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Delay...	ORPHA:289157
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa...	OMIM:618048
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr...	OMIM:620366
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Congenital hypothyroidism, Increased body ...	OMIM:614450
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Hypophosphate...	ORPHA:89936
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas...	OMIM:136300
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o...	ORPHA:90650
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho...	OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Kenny-Caffey Syndrome, Type 1	Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased skull ossif...	OMIM:244460
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Failure to thrive, Hy...	OMIM:620099
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Postnatal growth retardation, Splen...	OMIM:620632
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ...	ORPHA:2780
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel ...	OMIM:612462
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas...	OMIM:617099
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Talipes equinovalgus, Clinodactyly, Overlap...	OMIM:618435
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone...	OMIM:618618
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increased bone density with cy...	ORPHA:94089
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter...	OMIM:274300
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Decreased body weight, Osteopetrosis, Clinodactyly of the 5th finger, Increased bon...	OMIM:617306
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Hyporeflexia of upper limbs, Knee dislocation, Joint hypermobi...	ORPHA:178145
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo...	OMIM:166250
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, O...	OMIM:612463
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteoporosis, Short ...	ORPHA:71267
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,...	OMIM:619322
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg...	OMIM:620210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin bony cortex, Osteolysis, Prema...	OMIM:174810
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Rickets, Failure to thrive	OMIM:602722
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil...	OMIM:190351
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Retrognathia, Osteomalacia, Avascular necrosis of the capital femoral epiphy...	ORPHA:1901
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Failure to thrive	OMIM:615085
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Malar flattening, Short ribs, Generalized osteoscler...	OMIM:215045
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Talipes equinovarus, Congenital contracture	OMIM:208100
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly, Growth delay	ORPHA:100025
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G...	ORPHA:3019
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of...	OMIM:619110
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Hemidystonia-Hemiatrophy Syndrome	Hemiatrophy, Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Advanced pneumatizat...	ORPHA:306741
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert...	ORPHA:2635
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal shoulder...	ORPHA:10
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Odontochondrodysplasia 1	Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Micromelia, Delayed eruption of teeth,...	OMIM:184260
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m...	OMIM:613501
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Joint stiffness, Multi...	ORPHA:916
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del...	OMIM:613849
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Coxa vara,...	ORPHA:174
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure of eruption of perman...	ORPHA:3238
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Hypoplastic cervical vertebrae, Microme...	ORPHA:628
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Smith-Magenis syndrome	Motor stereotypy, Brachydactyly, Self-mutilation, Hyperactivity	DECIPHER:8
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets, Bowing of the legs	OMIM:615605
Laron Syndrome	Short toe, Hypoglycemia, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hy...	ORPHA:633
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela...	OMIM:265800
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Talipes equinovarus, Genu valgum, Acetabular dysplasia, Coxa valga	OMIM:613618
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Abnormality of the dentition	OMIM:615269
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay...	OMIM:617974
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Bifid uvula, Hyperphosphatemia, Long philtrum, Micrognathia, H...	OMIM:241410
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Transient Neonatal Diabetes Mellitus	Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient n...	ORPHA:99886
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Rickets, Failure to thrive	OMIM:611590
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Delayed eruption of teeth, Short finger, Hypocalcemic tetany, Obesi...	OMIM:103580
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Postnatal growth r...	OMIM:620603
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long...	OMIM:214150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat...	OMIM:600802
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Anterior radial he...	OMIM:610967
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed eruption of teeth, ...	ORPHA:166272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Distal low...	OMIM:619216
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Oste...	OMIM:259730
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Open bite, Micrognathia...	ORPHA:2097
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Delayed eruption o...	ORPHA:289176
Erythema Of Acral Regions	Abnormality of the dentition, Talipes equinovarus	OMIM:227000
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Micrognath...	ORPHA:163649
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Cryptorch...	OMIM:272440
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Atten...	OMIM:618761
Dominant Beta-Thalassemia	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hypopituitarism, ...	ORPHA:231226
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla...	OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive, Conjugated hyperbilirubinemia	OMIM:211600
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p...	ORPHA:763
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circul...	OMIM:617388
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Osteopenia, Broad femoral neck, Dental malocclusion, ...	OMIM:612350
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy, Joint hypermobility	OMIM:606053
Arthrogryposis, Distal, Type 11	Limited pronation/supination of forearm, Talipes equinovarus, Absent proximal finger flexion crea...	OMIM:620019
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Gracile Bone Dysplasia	Failure to thrive, Slender long bone, Flared metaphysis, Ankyloglossia, Hypocalcemia, Decreased s...	OMIM:602361
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive, Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Clinodactyly, Hypoglycemia, Delayed eruption of teeth, Hypogonadism, Failure ...	ORPHA:73272
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Talipes equinovarus, Dysphagia...	ORPHA:496689
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra...	OMIM:617194
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia...	OMIM:226990
Celiac Disease, Susceptibility To, 1	Rickets, Failure to thrive, Decreased circulating IgA level, Recurrent aphthous stomatitis, Hypoc...	OMIM:212750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy...	OMIM:242860
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgum, Prominent medi...	OMIM:300602
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Increased bone mineral ...	OMIM:614856
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Flared metaphysis, Long philtrum, Extramedullary hematopoiesis, Cranial hyperostosis,...	OMIM:259720
Desmosterolosis	Bifid uvula, Micromelia, Failure to thrive, Retrognathia, Micrognathia, Narrow mouth, Submucous c...	ORPHA:35107
Beta-Thalassemia Major	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hypopituitarism, ...	ORPHA:231214
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Short Stature-Wormian Bones-Dextrocardia Syndrome	Broad alveolar ridges, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Microg...	ORPHA:2863
Osteoporosis	Osteoporosis	OMIM:166710
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Type I diabetes mellitus, Delayed eruption of teeth, Everted uppe...	ORPHA:181
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Osteopenia, Bowing of the arm, Joint hypermobility, Multiple prenatal ...	OMIM:301014
Arthrogryposis, Distal, Type 2B3	Overlapping fingers, Narrow mouth, Talipes equinovarus, Hallux valgus, Adducted thumb, Ulnar devi...	OMIM:618436
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures	OMIM:613388
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Abnormality of the dentition, Hyperphosphatemia, Long philtrum...	ORPHA:2323
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na...	ORPHA:50811
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Decreased body weight, Brachydactyly, Reduced bone mineral density, Small for...	OMIM:618392
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Talipes equinovarus, Rocker bottom foot, Arthrogryposis multiplex congenita, Cleft ...	OMIM:616570
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Craniometadiaphyseal Dysplasia	Osteopenia, Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared ...	OMIM:269300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Hip dislocation	OMIM:300434
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto...	OMIM:616100
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt...	ORPHA:2325
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Recurrent sinusitis, Generalized joint hypermobility, Joint hypermobi...	OMIM:130010
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Hypophosphatasia	Abnormality of the dentition, Failure to thrive in infancy, Hypercalcemia, Bowing of the long bon...	ORPHA:436
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Failure to thrive, Eruption failure, Lon...	ORPHA:476126
Fanconi-Bickel Syndrome	Osteopenia, Rickets, Failure to thrive, Bowing of the long bones, Hypophosphatemia, Hypertriglyce...	ORPHA:2088
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Bangstad Syndrome	Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insuffic...	OMIM:210740
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	ORPHA:100973
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva...	OMIM:618363
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Failure to thrive	OMIM:560000
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Obsessive-compulsive trait, Motor ster...	OMIM:618825
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA lev...	OMIM:615934
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus, Aggressive behavior	OMIM:615683
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Talipes equinovarus, Dysphagia	OMIM:181400
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Wei...	ORPHA:141152
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Reduced bone mineral density, Narrow mouth, Abnormal meta...	ORPHA:2370
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Epiphyseal Dysplasia, Multiple, 4	Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral ...	OMIM:226900
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora...	ORPHA:199306
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim...	ORPHA:226313
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin...	OMIM:608184
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets	OMIM:612089
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Overlapping toe, Overlapping fingers, Narrow mouth...	OMIM:108120
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Abnorm...	ORPHA:667
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Head-banging,...	OMIM:619356
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Wide mouth, Gingival overgro...	ORPHA:137834
Prieto Syndrome	Abnormality of the dentition, Clinodactyly, Retrognathia, Radial deviation of finger, Talipes equ...	OMIM:309610
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, High palate, Hip contracture, Knee flexion...	OMIM:616809
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Osteomalacia...	ORPHA:1652
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated...	ORPHA:95716
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Long upper l...	OMIM:309548
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morpho...	ORPHA:177
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Abno...	ORPHA:1133
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Acrootoocular Syndrome	High, narrow palate, Small for gestational age, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia	OMIM:134600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Acrodysostosis	Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ...	ORPHA:950
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Osteopetros...	OMIM:612840
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Cystinosis	Hypokalemia, Hypophosphatemia, Rickets, Failure to thrive	ORPHA:213
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen...	OMIM:242700
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Talipes equinovarus	ORPHA:238578
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners of mouth, Failure to...	ORPHA:2107
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve...	OMIM:113000
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Short humerus, ...	OMIM:239000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Metaphyseal dysplasia, Craniosynostosis, Hypercalcemia	OMIM:614732
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
48,Xxxy Syndrome	Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, H...	ORPHA:96263
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal femur morphology, Abnormal palate morphology, Multiple une...	ORPHA:2063
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Clinodactyly, Retrognathia, Hypoplasia of the cap...	ORPHA:557003
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Upper li...	ORPHA:93351
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Spastic Paraplegia 33, Autosomal Dominant	Talipes equinovarus, Ankle clonus	OMIM:610244
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Attention deficit hyperactivity...	OMIM:619736
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi...	ORPHA:36913
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Neu-Laxova Syndrome	Osteopenia, Bifid uvula, Rickets, Micromelia, Retrognathia, Osteomalacia, Micrognathia, Thick ver...	ORPHA:2671
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Genu valgum, Limited elbow extension, Micrognathia, Narrow m...	OMIM:614078
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Oncogenic Osteomalacia	Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur morphology, Increased suscep...	ORPHA:352540
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat...	OMIM:618116
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decrea...	OMIM:102700
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrh...	ORPHA:79303
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ...	ORPHA:166002
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligod...	ORPHA:251019
Aarskog-Scott Syndrome	Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed e...	ORPHA:915
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo...	OMIM:101800
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha...	OMIM:615923
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal...	ORPHA:175
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Tooth malposition, De...	ORPHA:2484
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ...	OMIM:618342
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Trun...	OMIM:620639
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif...	ORPHA:79443
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep...	OMIM:615122
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Tooth malposition, Pathologic fracture, Micrognathia, Hip contra...	OMIM:156400
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Distal lower limb muscle we...	OMIM:600175
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Malar flattening, Talipes equinovarus, Phalangeal dislocation	ORPHA:85174
Camurati-Engelmann Disease	Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Slender build, Sclerosis of sk...	OMIM:131300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Large for gestational age, Hypophosphatemia, Rickets	OMIM:616026
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Thin upper lip vermilion, Aggressive behavior, Hyperactivity, Long fingers, Cl...	OMIM:609425
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259440
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Abnormal ...	OMIM:190350
Maffucci Syndrome	Pituitary adenoma, Multiple enchondromatosis, Goiter, Recurrent fractures, Neoplasm of the parath...	ORPHA:163634
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Everted upper lip vermilion, Delayed eruption of tee...	ORPHA:420561
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Rocker bottom foot, Long philtrum, Camptodactyly of finger, Ulnar deviatio...	OMIM:601680
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp...	ORPHA:50945
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs ...	OMIM:259420
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Camptodactyly of finger, Abnormal hip bone morpholog...	ORPHA:2631
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
X-Linked Intellectual Disability, Stocco Dos Santos Type	Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivity	ORPHA:85288
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Osteopenia, Periodontiti...	OMIM:619269
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell ...	OMIM:304790
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Pontocerebellar Hypoplasia, Type 12	Overlapping fingers, Micrognathia, Talipes equinovarus, Joint contracture, Rocker bottom foot	OMIM:618266
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen...	OMIM:615816
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Retrognathia, Inflexible adherence to routines, Failure to thrive in inf...	OMIM:613670
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen...	ORPHA:2643
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Abnormal dental...	ORPHA:2176
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Decre...	OMIM:614592
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Elbow flexion contracture, Micrognathia...	OMIM:617468
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t...	OMIM:619797
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia	OMIM:608898
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Small hand, Arthrogryposis multiplex congenita, Short foot, Motor stereo...	OMIM:615282
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Splenomegaly, Hepatomega...	OMIM:616354
Hall-Riggs Syndrome	Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia,...	OMIM:234250
Hyaline Fibromatosis Syndrome	Osteopenia, Failure to thrive, Gingival overgrowth, Progressive flexion contractures, Osteoporosi...	OMIM:228600
49,Xxxxy Syndrome	Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, H...	ORPHA:96264
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Micrognathia, Hypocalcemia, Cachexia, Thin vermilion border, Tapered f...	ORPHA:1438
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Abnormality of the dentition, Aplasia/Hypoplasia...	ORPHA:2909
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th...	ORPHA:2636
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Abnormality of the dentition	OMIM:615266
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio...	OMIM:619719
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Neutropenia, Leukemia, Genu var...	ORPHA:221008
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Abnormality of the dentition, Micromelia, Failu...	OMIM:241500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia...	OMIM:614700
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Small for gestational age, Increased bone mineral density, Coxa valga	OMIM:616943
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop...	OMIM:620514
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Cleft lip	OMIM:615271
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Short Syndrome	Insulin resistance, Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodact...	OMIM:269880
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Abnormal number of incisors, Finger clinodactyly, Patellar subluxation, Bilateral t...	ORPHA:2958
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Motor stereotypy, Pr...	ORPHA:819
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Delayed eruption of teeth, Long philtrum, Thick lower...	OMIM:614607
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	ORPHA:436159
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Talipes equinovarus, Sma...	OMIM:211960
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Tooth malposition, Abnormality of the dentition, Failure to thrive, ...	ORPHA:2785
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Ly...	OMIM:603554
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short...	ORPHA:198
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Decreased response to growth hormone sti...	ORPHA:289494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus, Flexion contracture	OMIM:613162
Weaver Syndrome	Broad thumb, Retrognathia, Long philtrum, Camptodactyly of finger, Finger syndactyly, Sandal gap,...	ORPHA:3447
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch...	ORPHA:811
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop...	ORPHA:398063
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Patchy sclerosis of finger phalanx...	OMIM:218400
Fanconi-Bickel Syndrome	Hypouricemia, Rickets, Failure to thrive, Osteomalacia, Hyperbilirubinemia, Increased serum bile ...	OMIM:227810
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Abnormal hip bone morphology, Hypoplastic inferior il...	ORPHA:577
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Limitation of joint mobility, Short toe, Osteoarthritis of the el...	ORPHA:2619
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Tooth agenesis, Decreased c...	OMIM:616229
Brachydactyly Type A1	Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hallux, Hypoplasia of the ...	ORPHA:93388
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Polycystic ovaries, Delayed pub...	ORPHA:100
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D...	ORPHA:90362
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig...	OMIM:243700
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni...	OMIM:617303
Lambert Syndrome	Talipes equinovarus, Wide mouth, Malar flattening	OMIM:245550
Craniometaphyseal Dysplasia, Autosomal Dominant	Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu...	OMIM:123000
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
1Q21.1 Microduplication Syndrome	Talipes equinovarus, Attention deficit hyperactivity disorder, Arthrogryposis multiplex congenita...	ORPHA:250994
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Brachydactyly, Clinodactyly of the ...	ORPHA:236
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Sp...	ORPHA:824
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi...	ORPHA:100083
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth...	OMIM:612921
Osteogenesis Imperfecta, Type Xviii	Abnormality of the dentition, Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the lo...	OMIM:617952
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Block vertebrae, Hypoplasia of the ...	OMIM:272460
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Rhizomelia, Sandal gap, Short tibia, Failure to thrive, Decrease...	OMIM:607143
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Obesity, Hypocalcemia, Brachydactyly, Short metacarpal	OMIM:603233
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital f...	ORPHA:157965
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Abnorma...	ORPHA:1656
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Fail...	ORPHA:90674
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of the maxilla, Failure to thrive...	OMIM:608154
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Abno...	ORPHA:911
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Joint hypermobility, Microdontia, ...	OMIM:619718
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Majeed Syndrome	Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei...	ORPHA:77297
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Roifman Syndrome	Postnatal growth retardation, Hepatosplenomegaly, Intrauterine growth retardation, Eosinophilia, ...	ORPHA:353298
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci...	ORPHA:29073
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobilit...	ORPHA:1427
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Deep philtrum	ORPHA:1237
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil...	ORPHA:1193
Infantile Myofibromatosis	Limitation of joint mobility, Hypercalcemia, Bone cyst, Gingival fibromatosis, Abnormal metaphysi...	ORPHA:2591
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Congenital Syphilis	Periostitis, Hypoglycemia, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatospleno...	ORPHA:499009
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration, Anorexia	ORPHA:90081
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:502
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ...	ORPHA:449432
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognathia, Hypocalcemia, Hypokal...	OMIM:617913
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymph...	OMIM:617591
Raine Syndrome	Mandibular prognathia, Natal tooth, Micromelia, Long hallux, Micrognathia, Narrow mouth, Protrudi...	OMIM:259775
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:572
Hypomagnesemia 3, Renal	Rickets, Failure to thrive, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide ...	OMIM:248250
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Agitation	OMIM:617171
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Hyperekplexia 4	Talipes equinovarus, Distal arthrogryposis, Adducted thumb, High palate, Camptodactyly, Flexion c...	OMIM:618011
Ascher Syndrome	Deviation of finger, Goiter, Abnormal upper lip morphology, Hypothyroidism, High palate	ORPHA:1253
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Triphalangeal thumb, Brachydactyl...	OMIM:604757
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy	OMIM:617270
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy,...	OMIM:615387
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Open mouth, Thin bony cortex, Calvarial hyperostosis	OMIM:176920
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Short thumb, Delayed eruption of teeth, Long phi...	ORPHA:2712
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Zika Virus Disease	Intrauterine growth retardation, Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb...	OMIM:616740
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Persistence of primary teeth, Decreased sk...	ORPHA:93325
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Increased circul...	OMIM:188570
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody level, Jaun...	ORPHA:2137
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
48,Xyyy Syndrome	Male hypogonadism, Long philtrum, Thick lower lip vermilion, Radioulnar synostosis, Aggressive be...	ORPHA:99329
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm...	OMIM:613982
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Hypocalcemia, Agammaglobulinemia, Weight loss, Arthritis, Sinus...	ORPHA:47
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Aggressive...	ORPHA:85279
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe...	OMIM:251450
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowding, Palmar hyperhi...	OMIM:620545
Nescav Syndrome	Talipes equinovarus, Flexion contracture	OMIM:614255
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Pes cavus, Distal lower limb muscle weakness, Talipes equinovarus, Sma...	OMIM:609311
Bruck Syndrome 1	Ankle flexion contracture, Abnormality of the dentition, Elbow flexion contracture, Increased sus...	OMIM:259450
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo...	ORPHA:90652
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia, Anterior open-bite...	ORPHA:83601
Microtriplication 11Q24.1	Small hand, Limitation of joint mobility, Bruxism, Genu valgum, Smooth philtrum, Talipes equinova...	ORPHA:289522
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko...	OMIM:615190
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ...	OMIM:619229
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal...	ORPHA:192
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Aggressive behavior, Hallux valgus, Hyperactivity, Motor stereotypy	OMIM:615541
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608636
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Zimmermann-Laband Syndrome	Bifid uvula, Deep plantar creases, Micrognathia, Wide mouth, Pes cavus, Supernumerary tooth, Join...	ORPHA:3473
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed puberty, Delayed eruption of teeth	ORPHA:1816
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Widely spaced teeth, Joint hypermobility, Attention deficit hyperactivity disorder, Craniosynosto...	OMIM:618906
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Brucellosis	Granuloma, Failure to thrive, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, ...	ORPHA:1304
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Hand clenching, Long philtrum, Congenital knee dislocation, Flexion contracture of finger, Adduct...	ORPHA:319332
Hypercholanemia, Familial, 2	Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Bowing of the long bones...	ORPHA:1801
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Finger swelling, Ricket...	OMIM:309000
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypercalcemia, Hypocalcemia, Oligodontia, Macroglossia, Short femoral ...	OMIM:618440
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu valgum, Brac...	ORPHA:263463
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hyporeflexia of lower limbs, Pes cavus, Knee flexion contracture, Hip contracture, Distal lower l...	OMIM:615290
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Hypocalcemia, Joint hyper...	OMIM:613658
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Talipes equinovarus	OMIM:613710
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala...	ORPHA:846
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Pes cavus, Upper limb amyotrophy	OMIM:617087
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:42642
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy, Joint hypermobility	OMIM:620065
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Elevated circulatin...	OMIM:601812
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Weight loss, Steatorrhea, Osteoporosis	ORPHA:309031
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Pediatric-Onset Graves Disease	Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Splenomegal...	ORPHA:525731
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ...	ORPHA:1326
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Alfadhel Syndrome	Retrognathia, Joint hypermobility, Smooth philtrum, Talipes equinovarus, Aggressive behavior, Thi...	OMIM:620655
Nievergelt Syndrome	Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal s...	OMIM:163400
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Retrognathia, Micrognathia, Single transverse palmar crease, Talipes equinovarus,...	OMIM:611890
Coffin-Siris Syndrome 3	Long philtrum, Wide mouth, Joint hypermobility, Thick vermilion border, Macroglossia, High palate...	OMIM:614608
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ...	ORPHA:2050
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Delayed eruption of teeth, Lon...	ORPHA:2616
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Heme Oxygenase 1 Deficiency	Growth delay, Cervical lymphadenopathy, Hepatomegaly, Lymphadenopathy, Coombs-positive hemolytic ...	OMIM:614034
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Osteopenia, Slender long bone, Radial bowing, Femoral bowing, Recurren...	OMIM:610915
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Spastic Paraplegia 47, Autosomal Recessive	Genu recurvatum, Wide mouth, Acetabular dysplasia, Talipes equinovarus, Pes planus, High palate, ...	OMIM:614066
Congenital Toxoplasmosis	Failure to thrive in infancy, Intrauterine growth retardation, Anemia, Lymphadenopathy, Thrombocy...	ORPHA:858
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Bifid uvula, Talipes equinovarus	OMIM:132800
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Retrognathia, Micrognathia, Narrow mouth, ...	ORPHA:352490
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Adducted thumb, Hydrocele testis, Brachydactyly	OMIM:620062
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Galloway-Mowat Syndrome 6	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Microdontia, ...	OMIM:618347
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Short thumb, Delayed eruption of teeth, Overlapping toe, Micrognathia, Distally placed...	OMIM:619148
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Premature osteoarthritis, Abnormal hand morphology, ...	ORPHA:93307
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc...	OMIM:617994
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Anemia, Thrombo...	OMIM:616050
Achondrogenesis Type 1A	Abnormal enchondral ossification, Micromelia, Long philtrum, Micrognathia, Short foot, Recurrent ...	ORPHA:93299
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Long philtrum, Micrognathia, Abnormality of bone mi...	ORPHA:932
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ...	ORPHA:93346
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Inverted Duplicated Chromosome 15 Syndrome	Joint hypermobility, 2-3 toe syndactyly, Talipes equinovarus, Aggressive behavior, Brachydactyly,...	ORPHA:3306
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:391
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop...	OMIM:252100
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited hip movement, Ankyloglossia, Micrognathia, Short lingual fr...	ORPHA:740
Schwartz-Jampel Syndrome	Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Decreased body weight, Bow...	ORPHA:800
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Hepa...	ORPHA:400
Intellectual Developmental Disorder, Autosomal Recessive 61	Conical tooth, Prominent fingertip pads, Pes cavus, Joint hypermobility, Talipes equinovarus, Agg...	OMIM:617773
Prolidase Deficiency	Failure to thrive, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundic...	OMIM:170100
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph...	OMIM:300755
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion contracture...	OMIM:272430
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Aggressive Systemic Mastocytosis	Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc...	ORPHA:98850
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy, Increased skull ossification, Thick vermilion border	OMIM:619690
Chromosome 6Q11-Q14 Deletion Syndrome	Long philtrum, Micrognathia, Pes cavus, Single transverse palmar crease, Joint hypermobility, Thi...	OMIM:613544
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Genu valgum, Hypoplasia of teeth, Genu varum, Coxa valga	OMIM:613312
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Genu valgum, Fibular bowing, Micro...	OMIM:613848
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, La...	OMIM:612731
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Hepatitis, Delayed eruptio...	ORPHA:1855
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate, Arthrogryposis multiplex congenita, Abnormal mandible morphology	OMIM:217150
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Flexi...	OMIM:618469
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Failure to thrive, Exocrine pancreatic i...	ORPHA:2315
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A...	ORPHA:79078
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Long philtrum, Micrognathia, Talipes equinovarus, S...	ORPHA:93298
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva	ORPHA:517
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met...	ORPHA:2774
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Malar flattening, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the ...	ORPHA:85172
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen...	OMIM:613239
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Hypoplasia of the nasal ...	ORPHA:93357
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Oral mucosal blisters, Hypodontia, ...	OMIM:226650
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac...	ORPHA:536516
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Short stature, Decreased circulating anti...	OMIM:619750
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Joint h...	ORPHA:429
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Knee flexion contracture, Talipes equinovarus, Distal arthrogryposis, C...	OMIM:618198
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Short stature, Neutropenia	OMIM:618752
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A...	ORPHA:540
Immunodeficiency 47	Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Normocytic anemia, Decreased circu...	OMIM:300972
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening of limbs, ...	OMIM:300863
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia, D...	OMIM:614381
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Stereotypical hand wringing, Talipes equinovarus, Compulsive behaviors, ...	OMIM:618917
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Decreased circulatin...	OMIM:605309
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Triphalangeal thumb, Multinodular goiter, Postaxial hand polydactyly	ORPHA:2091
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility...	OMIM:610968
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst	ORPHA:2668
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow ...	OMIM:108721
Infantile Nephropathic Cystinosis	Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration	ORPHA:411629
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Malar flattening, Sh...	OMIM:600972
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion...	ORPHA:364028
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Abnormal femur morphology, Micrognathia, Abnormal morpholo...	ORPHA:93329
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level	ORPHA:69126
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Micrognathia, De...	OMIM:616897
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High ...	OMIM:268305
Stüve-Wiedemann Syndrome	Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Micromelia, Smooth tongue...	ORPHA:3206
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Increased circulating IgE level, Intrauterine growth retardation, Leukocytosis, Spleno...	OMIM:620565
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter, Recurrent frac...	ORPHA:319487
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Mandibular prognathia, Short thumb, Delayed eruption of t...	OMIM:268400
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Limitation of joint mobility, Micromel...	ORPHA:2639
Diastrophic Dysplasia	Ulnar deviation of finger, Short finger, Genu valgum, Hip contracture, Talipes equinovarus, Hitch...	OMIM:222600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Joint hypermobility, Short ribs, Limb underg...	ORPHA:1803
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Glossitis, Clubbing, Clubbing of fingers	OMIM:175500
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Cryptorchidism, Neonatal death, Hip disl...	OMIM:146510
Mehmo Syndrome	Downturned corners of mouth, Talipes equinovarus, Thick vermilion border, Agitation, Tapered finger	ORPHA:85282
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Small for gestational age, Broad long bones, Tibial bowin...	OMIM:166210
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity...	OMIM:157980
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiostea...	OMIM:211900
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:619470
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Short stature	OMIM:620532
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Weight l...	ORPHA:324964
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Tooth malposition, Bifid uvula, Submucous cleft lip, Delay...	ORPHA:96170
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Hepatomegaly, Lymphaden...	ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome...	OMIM:301045
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner...	ORPHA:1327
Joubert Syndrome 18	Retrognathia, Trident pelvis, Joint hypermobility, Bowing of the long bones, Talipes equinovarus,...	OMIM:614815
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Prominent fingertip pads, Retrognathia, Splenomegaly, Motor stereotypy, ...	OMIM:615637
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Talipes equinovarus, Joint contracture of the hand	OMIM:611067
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L...	OMIM:260920
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired T cell fun...	OMIM:613179
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Intrauterine growth retardation, Cryptorchidism, Agammaglobulinemia, ...	OMIM:616910
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Growth delay, Hypersplenism, Hepatosplenomegaly, Pancytopenia...	ORPHA:77259
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Solitary median max...	ORPHA:952
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Open mouth, Malar flattening, Recurrent hand flapping, Attention deficit hyperac...	OMIM:620021
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo...	OMIM:616507
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Perrault Syndrome 1	Osteoporosis, High palate, Pes cavus, Talipes equinovarus	OMIM:233400
Hennekam Syndrome	Abnormal oral mucosa morphology, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of f...	ORPHA:2136
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Abno...	ORPHA:2238
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Cryptorchidism,...	ORPHA:534
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Talipes equinovarus, High palate, Dysphagia, Cleft palate	OMIM:614399
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Oral-pharyngeal d...	OMIM:610883
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Craniolenticulosutural Dysplasia	Bifid uvula, Osteopenia, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum...	OMIM:607812
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:235
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Flexion cont...	OMIM:203550
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Elbow dislocation, Clinodactyly, Pes cavus, Submucous ...	ORPHA:2804
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Short toe, Type E brachydactyly, Obesity, Malar flattening, Stereotypica...	OMIM:600430
Lead Poisoning	Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Anorexia, Decre...	ORPHA:330015
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ...	ORPHA:2409
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia, Abnormality of the dentition	OMIM:615267
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Congenital Myopathy 20	Congenital contracture, Elbow contracture, Short finger, Toe joint contracture, Micrognathia, Tal...	OMIM:620310
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto...	OMIM:615952
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Red...	ORPHA:18
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Micrognathia, Malar fla...	ORPHA:1787
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Cryptorchidism, Thin vermilion border, Incisor macrodontia, Cleft pa...	OMIM:615502
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Moebius Syndrome	Bifid uvula, Abnormality of the dentition, Hand clenching, Clinodactyly, Radial deviation of fing...	OMIM:157900
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Aggressive behavior, Bilateral talipes equinovarus, Wide mouth	OMIM:616521
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal foot morphology, Joint hypermobility, Thin upper lip vermilion,...	OMIM:618218
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Jo...	OMIM:230740
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation	OMIM:272300
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Peritonitis, Eosinophili...	ORPHA:228123
Intellectual Developmental Disorder, Autosomal Dominant 51	Fixated interests, Long foot, Recurrent hand flapping, Talipes equinovarus, Long toe, Attention d...	OMIM:617788
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Sandal gap, Macrodontia, Open mouth, Cryptorchidism, Malar flattening, T...	ORPHA:228402
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:83471
Schneckenbecken Dysplasia	Hypoplastic scapulae, Advanced tarsal ossification, Malar flattening, Short ribs, Limb undergrowt...	OMIM:269250
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Rickets, Failure to thrive, Hypomagnesemia, Failur...	OMIM:219800
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Pulmonary Blastoma	Weight loss	ORPHA:64741
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Failure of eruption of permanent teeth, Failure to thrive, Finger ...	ORPHA:2896
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Arthrogryposis, Distal, Type 3	Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ...	OMIM:114300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Decreased circulating antibo...	ORPHA:1572
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Tracheomalacia, Micro...	ORPHA:2108
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul...	OMIM:617052
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:617201
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Acetabular dysplasia, Generalized joint hypermobility, Motor stereot...	ORPHA:280763
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Recurrent fractures	OMIM:126550
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr...	OMIM:615758
12Q14 Microdeletion Syndrome	Failure to thrive, Downturned corners of mouth, Micrognathia, Hypodontia, Thin vermilion border, ...	ORPHA:94063
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De...	ORPHA:90673
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia, Growth delay	OMIM:607115
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Natal tooth...	OMIM:234100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me...	OMIM:210720
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Short palm, Coxa vara	ORPHA:168555
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra...	ORPHA:186
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congenital hyp...	ORPHA:209905
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Diaphyseal undertubul...	OMIM:620663
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Tooth malposition, Delayed eruption of teet...	OMIM:309350
Recon Progeroid Syndrome	Dental crowding, Delayed eruption of permanent teeth, Long thumb, Prominence of the premaxilla, A...	OMIM:620370
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hip dislocation, Long hallux, Genu valgum, Delayed pubic bone ossification, Pseudoepiphyses of ha...	OMIM:613330
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow flexion contrac...	OMIM:615065
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Mandibular prognathia, Delayed eruption of teeth, Long ph...	ORPHA:2067
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg...	OMIM:224400
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi...	OMIM:609128
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Stereotypical body rocking, Open mouth, Advance...	OMIM:617865
Freeman-Sheldon Syndrome	Abnormality of the dentition, Ulnar deviation of finger, Long philtrum, Camptodactyly of finger, ...	ORPHA:2053
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618709
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Anaplastic Thyroid Carcinoma	Goiter, Weight loss, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma	ORPHA:142
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Radial devia...	OMIM:211750
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Polyphagia, Bilateral t...	ORPHA:251028
Osteosarcoma	Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog...	ORPHA:668
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Joint stiffness, Gingival overgrowth, Narrow mouth, Protruding tongue, Hypopla...	OMIM:230600
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Arthritis, Geographic tongue, Elevated circ...	ORPHA:247353
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Joint hypermobility, Arachnodactyly, Talipes equino...	OMIM:615539
ERI1-related disease	Osteopenia, Small for gestational age, Failure to thrive, Velopharyngeal insufficiency, Slender m...	OMIM:608739
Char Syndrome	Toe syndactyly, Supernumerary nipple, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Per...	ORPHA:46627
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Limited elbow extension, Short foot, Short metatarsal, S...	OMIM:180870
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Leri-Weill Dyschondrosteosis	Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal meta...	OMIM:127300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Bilateral talipes equinovarus	OMIM:616486
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Obesity, Protruding tongue, Cryptorchidism, Malar flat...	OMIM:610253
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Abnormal cortical bone morphology, Prominence of the premaxilla, Decreased bo...	OMIM:614886
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Exaggerated median tongue furrow, Dental crowding, Hyperplasia of the ma...	ORPHA:313892
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow...	OMIM:619293
Smith-Magenis Syndrome	Abnormality of the dentition, Head-banging, Velopharyngeal insufficiency, Everted upper lip vermi...	OMIM:182290
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Kleefstra Syndrome	Self-injurious behavior, Limitation of joint mobility, Downturned corners of mouth, Delayed erupt...	ORPHA:261494
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Decreased prop...	OMIM:615607
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Femoral bowing, Increased susceptibility to fractures, Joi...	OMIM:166200
Bone Dysplasia, Lethal Holmgren Type	Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Abnormal femur m...	ORPHA:1842
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Recurrent fractures, Papillary thyroid carcinoma, Goiter	ORPHA:97290
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Abnormal circulating cholesterol concentration, Failur...	OMIM:602398
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia, Delayed pubert...	ORPHA:447896
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Intrauterine growth retardation, Increa...	OMIM:616395
Chromosome Xq13 Duplication Syndrome	Clinodactyly of the 5th finger, Limited elbow extension, Thin upper lip vermilion, Talipes equino...	OMIM:301069
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Timothy Syndrome	Thin upper lip vermilion, Cutaneous syndactyly, Hypocalcemia, Microdontia	OMIM:601005
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex...	OMIM:620005
Systemic Lupus Erythematosus 17	Decreased circulating complement C3 concentration, Lymphopenia, Leukopenia, Decreased circulating...	OMIM:301080
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ...	OMIM:609152
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Failure to thrive, Syndactyly	OMIM:226700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G...	ORPHA:562639
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Failure to thrive, Hypocalcemia	OMIM:606407
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Increased su...	OMIM:166220
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy, Single transverse palmar crease	OMIM:617820
Christianson Syndrome	Mandibular prognathia, Inappropriate laughter, Joint hypermobility, Motor stereotypy, Cachexia, A...	ORPHA:85278
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi...	ORPHA:2710
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Retrognathia, Failure to thrive, Camptodactyly of finger, Micrognathia, Cryptorchidi...	ORPHA:3047
Ophthalmomandibulomelic Dysplasia	Mesomelia, Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Te...	OMIM:164900
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Macroglossia, Delayed eruption of teeth, Failure to thrive, Thick lower lip ...	ORPHA:369950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Motor stereotypy, Dysphagia	OMIM:617862
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Micrognathia, Malar flattening, Smooth philtrum, Talipes equinovar...	OMIM:264180
Renpenning Syndrome	High, narrow palate, Mandibular prognathia, Decreased testicular size, Macrodontia, Joint stiffne...	ORPHA:3242
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Broad thumb, Clinodactyly, Failure to thrive, Hyperplasia of the maxilla, Long hallux...	OMIM:620194
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Failure to thrive in infancy, Inappropriate laughter, Micrognathia, St...	OMIM:614104
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnorma...	ORPHA:2047
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Hepatomegaly, Ch...	ORPHA:79259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Increased circulating IgA level, Lymphadenopathy, Hepatomegaly, Growth delay	ORPHA:343
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyelitis, Joint hypermo...	ORPHA:2314
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Failure to thrive, Extramedullary...	ORPHA:2886
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Microdontia, Postaxial hand polydactyly, Bifid tongue, S...	OMIM:258850
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Hypohidrosis, Abnormality of t...	OMIM:129550
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Microphthalmia, Lenz Type	Self-injurious behavior, Abnormality of the dentition, Finger syndactyly, Delayed eruption of tee...	ORPHA:568
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Sandal gap, Selective tooth agenesis, Hypoplasia of proxima...	OMIM:210600
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Roifman Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, Eosinophilia, Lympha...	OMIM:616651
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocyt...	ORPHA:457077
Marshall-Smith Syndrome	Slender long bone, Failure to thrive, Retrognathia, Gingival overgrowth, Open mouth, Increased su...	ORPHA:561
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bilateral cleft palate, Broad phalanx,...	ORPHA:56304
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Tented upper lip vermilion, Long philtrum	OMIM:619972
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull ossification...	ORPHA:666
Congenital Myopathy 24	Talipes equinovarus, High palate, Pes cavus, Scapular winging	OMIM:617336
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Malar flattening, Brachydactyly, Split hand, Cranios...	ORPHA:2145
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Short metacarpal	ORPHA:627
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Acromesomelic Dysplasia, Maroteaux Type	Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Short stature	OMIM:270300
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Short toe, Recurrent mandibular subluxations, Micrognathia, Gingiv...	OMIM:225410
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Charcot-Marie-Tooth Disease Type 4A	Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Abnormal foot m...	ORPHA:99948
Masa Syndrome	Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Brittle Cornea Syndrome 1	Congenital hip dislocation, Dentinogenesis imperfecta, Joint hypermobility	OMIM:229200
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Clinodactyly, Delayed eruption of teeth, Decreased response to gr...	OMIM:615866
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia...	OMIM:275350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Calvarial hyperostosis, Steatorrhea	OMIM:612714
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har...	OMIM:617412
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim...	ORPHA:1190
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir...	ORPHA:90003
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Macroglossia, Talipes equinovarus, Calf muscle hypertrophy, Triangular tongue	OMIM:616827
Glass Syndrome	Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High palate, Restlessness, Pierr...	OMIM:612313
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphad...	OMIM:257200
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calci...	OMIM:222765
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Decreased circulating IgG level, Abnormality of the dentition,...	OMIM:271510
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil...	OMIM:300280
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Interface hepatitis, Autoimmune hemolytic anemia, L...	OMIM:243150
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Failure to thrive, Long philtrum, Microgn...	OMIM:609029
Developmental And Epileptic Encephalopathy 91	Micrognathia, Single transverse palmar crease, Talipes equinovarus, Thick vermilion border, Short...	OMIM:617711
Idiopathic Achalasia	Weight loss, Dysphagia	ORPHA:930
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Joint hypermobility...	OMIM:612813
Thymic Neuroendocrine Tumor	Osteopenia, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Igg4-Related Pachymeningitis	Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concen...	ORPHA:449427
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Delayed eruption of teeth, Genu valgum, Cryptorchid...	OMIM:600373
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre...	ORPHA:371428
Genitopatellar Syndrome	Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Micrognathia, Patellar aplasia, Hip c...	ORPHA:85201
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Areflexia of upper limbs, Areflexia of lower limbs, Tongue atrophy	OMIM:616155
Chromosome 15Q26-Qter Deletion Syndrome	Short middle phalanx of finger, Talipes equinovarus, Micrognathia, Brachydactyly	OMIM:612626
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Hypoplasia of the...	ORPHA:2249
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mo...	OMIM:201170
Temtamy Syndrome	Dental crowding, Long philtrum, Micrognathia, Self-mutilation, Talipes equinovarus, Pes planus, B...	OMIM:218340
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Intrahepatic biliary ...	ORPHA:1296
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Bruck Syndrome	Joint stiffness, Bowing of the long bones, Talipes equinovarus, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Intellectual Developmental Disorder, Autosomal Recessive 38	Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Narrow ...	OMIM:615516
Cockayne Syndrome Type 2	Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ...	ORPHA:90322
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia	ORPHA:428
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior	OMIM:619150
Larsen-Like Syndrome	Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Joint hypermobility, T...	OMIM:608545
Short Syndrome	Insulin resistance, Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental e...	ORPHA:3163
Cowden Syndrome 5	Thyroid adenoma, Hypoplasia of the maxilla, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ...	OMIM:615108
N-Acetylaspartate Deficiency	Motor stereotypy, Self-mutilation, Decreased body weight	OMIM:614063
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Achondroplasia	Hip joint hypermobility, Rhizomelia, Obesity, Trident hand, Limited elbow extension, Knee joint h...	ORPHA:15
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Abnormal ilium morphology, Osteopenia, Aplasia/Hypoplasia of the vertebra...	ORPHA:168549
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Osteopenia, Genu valgum, Cleft palate	OMIM:614880
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension...	ORPHA:171
Omenn Syndrome	Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophil...	ORPHA:39041
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Cowden Syndrome 1	Thyroid adenoma, Hypoplasia of the maxilla, Goiter, Furrowed tongue, Lymphopenia, Micrognathia, N...	OMIM:158350
Blepharochalasis And Double Lip	Duplication of the upper lip, Goiter	OMIM:109900
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neopla...	ORPHA:83469
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Absent Achilles reflex, Talipes equinovarus, Distal arthrogrypo...	OMIM:620011
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Micrognathia, Abnormal palate morphology, Reduced bone mineral density	ORPHA:2617
Intestinal Dysmotility Syndrome	Broad philtrum, Weight loss, Failure to thrive, High palate	OMIM:620045
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal dental ename...	ORPHA:582
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Open mouth, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Attention deficit hyperacti...	OMIM:301039
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Osteopenia, Slender long bone, Downturned corners of mouth, Upper limb under...	ORPHA:369837
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deviation of finger, Joint stiffness, Arachnodactyly, Congenital finger flexion contractures, Bil...	ORPHA:1154
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia, Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Overlapping fingers, Micrognathia, Multiple joint con...	OMIM:618291
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Talipes equinovarus, Flexion contracture of finger, Adducted thumb, Bilateral talipes equinovarus...	OMIM:618484
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi...	ORPHA:453533
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand muscle weakness,...	ORPHA:101097
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To...	ORPHA:2686
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer...	OMIM:616716
Immunodeficiency 40	Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome...	OMIM:616433
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Retrognathia, Limb undergrowth, Joint contracture, High palate, Hi...	OMIM:618005
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decreased testicular...	ORPHA:457240
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Lymphopenia, Leukopenia, Gingival overgrowth, Short humerus, Reticuloc...	ORPHA:508542
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Restlessness, Diastema, Furrowed tongu...	OMIM:300534
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc...	ORPHA:449395
Tenorio Syndrome	Macroglossia, Mandibular prognathia, Osteopenia, Hypoglycemia, Recurrent aphthous stomatitis, Joi...	OMIM:616260
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Super...	ORPHA:464
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly, High palate	ORPHA:1035
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Joint stiffness, Cachexia	ORPHA:1144
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Cockayne Syndrome Type 1	Abnormality of the dentition, Male hypogonadism, Foot joint contracture, Failure to thrive, Widel...	ORPHA:90321
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Everted lower lip vermilion,...	OMIM:611174
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi...	ORPHA:3429
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Weight loss, L...	ORPHA:47612
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Dysplasia of the f...	ORPHA:94068
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Hepatosplenomegaly, Tr...	OMIM:309900
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactivity disorder, Pes planu...	OMIM:617695
Diencephalic Syndrome	Decreased body weight, Cachexia, Hyperhidrosis, Everted lower lip vermilion, Abnormality of the h...	ORPHA:1672
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Failure to thrive, Recurrent fractures, Micrognathia,...	OMIM:609465
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Clubbing of toes, Weight loss, Dysphagia	ORPHA:2198
Contractural Arachnodactyly, Congenital	Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the long bones, Pat...	OMIM:121050
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusi...	OMIM:269500
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ...	ORPHA:331235
Aase-Smith Syndrome I	Slender finger, Open mouth, Talipes equinovarus, Flexion contracture, Cleft palate	OMIM:147800
Cowden Syndrome 6	Thyroid adenoma, Hypoplasia of the maxilla, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ...	OMIM:615109
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Developmental And Epileptic Encephalopathy 58	Motor stereotypy	OMIM:617830
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Cryptorchidism, Abnormal palate morphology, Cachexi...	ORPHA:2471
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Narrow mouth, Scapulohumeral...	OMIM:602471
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology, Anorexia	ORPHA:2023
Werner Syndrome	Small hand, Neoplasm of the oral cavity, Slender build, Joint stiffness, Osteoporosis, Rocker bot...	ORPHA:902
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Joint stiffness, Micrognathia, Narrow mouth, Cachexia, Weight loss, Fle...	ORPHA:1979
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Nasu-Hakola Disease	Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphysis morphology, Bone cyst	ORPHA:2770
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Thyroid hypoplasia, Hypoplasi...	ORPHA:861
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Pes cavus, Talipes equinovarus, Split hand, Hammertoe	OMIM:604563
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Congenital hypothyroidism, Delayed eruption of permanent teeth, Tented upp...	ORPHA:521445
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Fi...	OMIM:228930
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Malar flattening, Hypocalcemia, Alveolar ridge overgrowth, Thin upper lip vermilion...	OMIM:235255
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplastic acetabulae, Carious teeth, Delayed eruption of teeth, Hypoplast...	OMIM:253200
Joubert Syndrome 24	Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:616654
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Downturned corners of mouth, Long philtrum, Narrow mouth, Joint hypermobility, Cervical C2/C3 ver...	OMIM:617333
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, High palate, Dislocated radial head, High, narrow palate, Self-inju...	OMIM:122470
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, ...	OMIM:603553
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ...	ORPHA:355
Sotos Syndrome	High, narrow palate, Narrow palate, Long metacarpals, Genu valgum, Glucose intolerance, Cryptorch...	OMIM:117550
Frank-Ter Haar Syndrome	Micrognathia, Bowing of the long bones, Talipes equinovarus, Prominent coccyx, Bilateral talipes ...	OMIM:249420
Pseudomyxoma Peritonei	Weight loss, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Microretrognathia, Radial deviation of the hand, Downturned corners of mouth, Lo...	OMIM:301041
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density, Long philtrum	ORPHA:466926
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Slender long bone, Long philtrum, Retrognathia, Diastema, Macr...	OMIM:212066
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B l...	OMIM:601495
Lassa Fever	Jaundice, Increased circulating IgM level	ORPHA:99824
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Thickened cortex of l...	OMIM:253250
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Osteol...	ORPHA:2796
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Talipes equinovarus, Micrognathia	OMIM:616171
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism...	ORPHA:2905
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cri-Du-Chat Syndrome	Bifid uvula, Microretrognathia, Small for gestational age, Downturned corners of mouth, Thick low...	OMIM:123450
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, Everted lower lip vermilion, Th...	OMIM:619980
Central Core Disease	Congenital hip dislocation, Multiple joint contractures, Joint hypermobility, Talipes equinovarus...	ORPHA:597
Insulin-Like Growth Factor I Deficiency	Micrognathia, Clinodactyly of the 5th finger, Osteopenia, Decreased body weight	OMIM:608747
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus	OMIM:615035
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Micronodular cirrhosis, Widely spaced teeth, Gingival overgrowth, Sple...	OMIM:301072
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ...	OMIM:617866
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombocyt...	OMIM:619644
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Long ...	ORPHA:444072
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Rift Valley Fever	Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula...	ORPHA:319251
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Hyperhidrosis, Syndactyly	OMIM:613576
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Abnormal temper tantrums, Dental malocclusion, Clinodactyly of the 2nd finger, Long p...	ORPHA:73223
Crimean-Congo Hemorrhagic Fever	Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Orchitis, Jaundic...	ORPHA:99827
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n...	ORPHA:226307
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Xanthelasma, Weight loss, Increased bone mineral de...	ORPHA:35687
Erythrokeratodermia Variabilis	Weight loss, Brachydactyly, Abnormal testis morphology, Diabetes mellitus, Tapered finger	ORPHA:317
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis...	OMIM:620376
Spastic Paraplegia 52, Autosomal Recessive	Wide mouth, High palate, Talipes equinovarus, Thick vermilion border, Short philtrum, Flexion con...	OMIM:614067
Glutaric Aciduria Iii	Hyperthyroidism, Failure to thrive, Goiter	OMIM:231690
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Microretrognathia, Clinodactyly of the 5th finger, Motor stereotypy, Cra...	ORPHA:397612
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Limitation of joint mobility, Micromelia, Broad long bones, Clubbing of fingers...	ORPHA:1865
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Absent nipple, Carious teeth, Downturned corners of mouth...	ORPHA:1299
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Downturned corners of mouth, Bruxism, Motor stereotypy, Hyperactivity, P...	OMIM:618718
Congenital Disorder Of Glycosylation, Type Iih	Clinodactyly of the 3rd toe, Finger clinodactyly, Micrognathia, Talipes equinovarus, Bilateral co...	OMIM:611182
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Open bite, Ankyloglos...	ORPHA:1507
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Abnormality of the dentition, Self-injurious behavior, Natal tooth, Failure t...	ORPHA:261652
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Retrognathia, Sandal gap, Micrognathia, Joint contracture of the 5th fin...	OMIM:618914
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pes cavus, Abnormality of the Achilles tendon, Joint hyper...	ORPHA:643
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Hand clenching, Retrognathia, Abnormal foot morphology, Micrognathia, Gingival ove...	OMIM:618186
Thyrocerebrorenal Syndrome	Thrombocytopenia, Euthyroid goiter	ORPHA:3327
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Elevated circulating calcitonin concentration, Proximal femoral epiphysiolys...	OMIM:162300
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Intrauterine growth retardation, Postnatal growth retardation	OMIM:609054
Immunodeficiency 31C	Growth delay, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Splenomega...	OMIM:614162
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Open bite, Cachexia, High palate, Short foot, Decreased testicular si...	ORPHA:85293
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Failure to thrive, Narrow mout...	ORPHA:2962
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Failure to thrive, Lymphopenia, Leukopenia, Po...	OMIM:242840
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los...	ORPHA:2126
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Flat acetabular roof, Cleft lip, Hamartoma of tongue, Fibular hypoplasi...	OMIM:616300
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Retrognathia, Elbow flexion contracture, Overlapping toe, Hip co...	OMIM:617301
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, High palate, Precocious puberty, Postprandial hyperglycemia,...	ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Talipe...	OMIM:309583
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology, Short statur...	OMIM:215250
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Prominent fingertip pads, Failure to thrive, Micrognathia, Recurrent han...	OMIM:300986
Charcot-Marie-Tooth Disease Type 4G	Distal upper limb muscle weakness, Abnormal foot morphology, Pes cavus, Distal lower limb muscle ...	ORPHA:99953
Noonan Syndrome 13	Lower limb asymmetry, Clinodactyly, Long philtrum, Widely spaced teeth, Head-banging, Overlapping...	OMIM:619087
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Hyperhidrosis, Oral mucosal blisters	ORPHA:79406
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia	OMIM:601345
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Downturned corners of mouth, Camptodactyly of finge...	ORPHA:2215
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Talipes equinovarus, Hip dislocation	OMIM:616756
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Leukemia, Disloc...	OMIM:180849
Acrocephalopolydactyly	Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Failure to thrive, Thick upper lip verm...	OMIM:247200
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, F...	OMIM:193700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Joint stiffness, Bicoronal ...	OMIM:619184
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, High, narrow palate, Retrognathia, Long philtrum, Contractures of the large j...	ORPHA:96092
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Long philtrum, Preaxial foot polydactyly, Micrognathia, Thin upp...	ORPHA:1988
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Abnormality of body w...	ORPHA:2298
Peroxisome Biogenesis Disorder 7A (Zellweger)	Talipes equinovarus, High palate, Epiphyseal stippling, Long philtrum	OMIM:614872
Nail-Patella Syndrome	Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Contracture of the dist...	ORPHA:2614
Wieacker-Wolff Syndrome	Broad alveolar ridges, Hip dislocation, Retrognathia, Long philtrum, Micrognathia, Smooth philtru...	OMIM:314580
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Clinodactyly, Clinodactyly of the 5th toe, Talipes eq...	OMIM:601110
Castleman Disease	Follicular hyperplasia, Anemia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thromb...	ORPHA:160
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Alazami Syndrome	Slender long bone, Widely spaced teeth, Abnormal eating behavior, Malar flattening, Self-mutilati...	ORPHA:319671
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Growth delay, Failure to thrive, Increased cir...	OMIM:256040
Icf Syndrome	Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level, Short stature	ORPHA:2268
Double Outlet Right Ventricle	Failure to thrive, Narrow mouth, Hypocalcemia, Abnormality of cartilage of external ear, Submucou...	ORPHA:3426
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Mandibular prognathia, Dental malocclusion, Open bite, Ab...	ORPHA:3079
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Crane-Heise Syndrome	Short distal phalanx of finger, Toe syndactyly, Finger syndactyly, Joint stiffness, Micrognathia,...	ORPHA:1512
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy, Failure to thrive, Joint contracture	OMIM:617393
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Craniosynostosis, Hype...	ORPHA:251004
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth, Arthritis	ORPHA:375
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Hypocalcemia, Thin upper lip vermilion, Br...	OMIM:300712
Wilson Disease	Hepatitis, Failure to thrive, Pathologic fracture, Acute hepatitis, Hepatic steatosis, Splenomega...	ORPHA:905
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Finger syndactyly, Delayed e...	ORPHA:87
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Flattened epiphysis, High palate, Dislocated radial head, Short metacarpal, Small ep...	OMIM:143095
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Isolated Cleft Lip	Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral...	ORPHA:199302
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philtrum, Micrognathia, ...	OMIM:145420
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dysphagia	ORPHA:97285
Roussy-Lévy Syndrome	Talipes equinovarus, Genu valgum, Intrinsic hand muscle atrophy, Pes cavus	ORPHA:3115
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Finger syndactyly, Delayed eruption of teeth, Supernumerary nipple, Widely spaced ...	ORPHA:1071
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Elbow flexion contracture, Pes cavus, Multiple joint contractures, ...	OMIM:617114
Coffin-Siris Syndrome 6	High, narrow palate, Retrognathia, Clinodactyly, Micrognathia, Attention deficit hyperactivity di...	OMIM:617808
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Streak ovary, Micrognathia, Radioulnar synostosis, Hepatobl...	ORPHA:798
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Genu valgum, Thin vermilion border, Spina bifida occulta, Short phil...	ORPHA:2983
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Kury-Isidor Syndrome	Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Triangular mou...	OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, High palate, Dysphagia, Motor stereotypy, Self-injurious behavior, Oligodontia, Thi...	OMIM:617061
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Failure to thr...	ORPHA:364577
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Large for gestational age, Narrow mouth, Polydactyly, J...	ORPHA:77301
Cenani-Lenz Syndrome	Synostosis of joints, High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syn...	ORPHA:3258
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Pursed lips, Long philtrum, Elbow flexion contracture, Micrognathia, Knee...	OMIM:616266
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Joint stiffn...	ORPHA:968
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Toe syndactyly, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Clinodactyly, Widely spaced teeth, Pes cavus, Arachnodactyly, Motor stereotypy, Syn...	OMIM:619092
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad thumb, Carious teeth, Natal tooth, Cryptorchidism, Motor stereotypy, Self-injurious behavio...	ORPHA:353281
Asthma, Short Stature, And Elevated Iga	Short stature, Increased circulating IgA level	OMIM:208600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Small hand, Elbow flexion contracture, Micrognathia, Tented upper lip ve...	ORPHA:371364
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe...	OMIM:300373
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Postaxial hand polydactyly	ORPHA:1389
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Autosomal Recessive Centronuclear Myopathy	Bifid uvula, Retrognathia, Pes cavus, Narrow mouth, Hip contracture, Talipes equinovarus, Long fi...	ORPHA:169186
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia, Bilate...	ORPHA:466722
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute...	ORPHA:319218
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Malar flattening, Joint hypermobility, Mis...	ORPHA:1488
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal synostosis, Dysplas...	OMIM:615349
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Micromelia, Recurrent fractures, Decreased calvarial ossification	ORPHA:2772
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Osteopenia, Clinodactyly, Rhiz...	OMIM:614813
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Joint stiffness, Portal hypertension, ...	ORPHA:465508
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased testicular size, Decreased circulat...	OMIM:620040
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Moebius Syndrome	Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia of the radius, Finger syndactyly, Apla...	ORPHA:570
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Retrognathia, Radial deviation of the hand, Short tibia, Short toe, Pre...	ORPHA:2756
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Anemia, Generalized lymphaden...	ORPHA:829
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Split hand	OMIM:607831
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Micrognathi...	ORPHA:808
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles...	OMIM:212112
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Postnatal growth retardation, Delayed puberty, Short stature	OMIM:618985
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Pontocerebellar Hypoplasia, Type 1A	Talipes equinovarus, Congenital contracture, Dysphagia, Abnormal foot morphology	OMIM:607596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Scapular muscle atrophy, Talipes equinovarus, Peroneal muscle weakness, Calf muscle hypertrophy, ...	OMIM:611588
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Talipes equinovarus, Pes cavus, Hammertoe	OMIM:608340
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Micrognathia, Lower...	OMIM:300867
Laryngeal Abductor Paralysis	Talipes equinovarus, Dysphagia	OMIM:150260
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Intellectual Developmental Disorder, X-Linked 98	Central hypothyroidism, Downturned corners of mouth, Failure to thrive, Bulimia, Bruxism, Stereot...	OMIM:300912
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Short toe, Micrognathia, Malar flattening, Talipes equinovarus, High palate, Flexio...	ORPHA:98791
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Single transverse palmar crease, Thin upper lip vermilion, 2-3 toe s...	OMIM:613443
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus, Narrow palate, Joint contracture	OMIM:617481
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Retrognathia, Distal shortening of limbs, Thickened c...	ORPHA:488434
Robinow Syndrome	Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Cryp...	ORPHA:97360
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly...	OMIM:615966
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Microdontia, Thin upper lip vermilion, Mo...	OMIM:618027
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Osteopenia, Long philtrum, Bowing of the legs, Recurrent fractures, De...	OMIM:610682
Myopathy, Centronuclear, 2	Pes cavus, Talipes equinovarus, Scapular winging, High palate, Flexion contracture	OMIM:255200
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Micrognathia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ...	OMIM:618183
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo...	ORPHA:3353
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Failure to thrive in infancy, Open mouth, Hip contracture, Thin upper lip vermilion, ...	OMIM:616801
Ctcf-Related Neurodevelopmental Disorder	Narrow mouth, Joint contracture of the 5th finger, Cryptorchidism, Osteopenia, Prominent fingerti...	ORPHA:363611
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Microretrognathia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Malar fla...	ORPHA:1788
Lopes-Maciel-Rodan Syndrome	Small hand, Bruxism, Ankle clonus, Dysphagia, Short foot, Motor stereotypy, Agitation	OMIM:617435
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth...	OMIM:620133
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, L...	OMIM:619143
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia	OMIM:600740
Spinal muscular atrophy, type I, with congenital bone fractures	Congenital hip dislocation, Osteopenia, High palate, Arachnodactyly, Multiple prenatal fractures,...	OMIM:271225
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the temporomandibular joint, Abnormal shoulder morphology, Abn...	ORPHA:85408
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Polyphagia, Everted lower ...	OMIM:615873
Spastic Paraplegia 50, Autosomal Recessive	Wide mouth, Talipes equinovarus, Adducted thumb, High palate, Short philtrum, Mandibular prognathia	OMIM:612936
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Long philtrum, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, ...	ORPHA:562528
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P...	OMIM:618727
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hepatitis, Hypogl...	ORPHA:199299
Bloom Syndrome	Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Intraute...	ORPHA:125
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Dental malocclusion, Failure to thrive, Limitation of joint mo...	OMIM:216400
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Dental malocclusion, Small for gestational age, Failure to thr...	OMIM:133540
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Slender long bone, Joint hypermobility, Thick vermilion border, Spin...	ORPHA:1185
Hirschsprung Disease	Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss, Adducted thumb	ORPHA:388
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor...	ORPHA:3121
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, Li...	OMIM:616723
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Short stature	OMIM:615139
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Downturned corners of mouth, Bruxism, Tented upper lip vermilion, Hair-p...	OMIM:616393
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, 2-3 t...	ORPHA:163979
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mandibular prognathia, Mesomelia	ORPHA:171866
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis...	OMIM:223370
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ...	ORPHA:26793
Microphthalmia, Syndromic 2	Cryptorchidism, Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body ...	OMIM:300166
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Open bite, Micrognathia, Anodontia, Short palm, Hip dislocation, High, narrow ...	ORPHA:3107
Chronic Hiccup	Weight loss, Abnormal eating behavior	ORPHA:396
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Brachydactyly, Hypocalcemia	ORPHA:1563
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Pes cavus, Tented upper lip vermilion, Single transverse palmar crease, Bilatera...	OMIM:617807
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen...	ORPHA:520
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Patellar aplasia, Joint hyp...	ORPHA:2058
Roifman-Chitayat Syndrome	Osteopenia, Cone-shaped epiphysis, Thin lower lip vermilion, Arthritis, Short metatarsal, Short m...	OMIM:613328
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Decreased palmar cr...	OMIM:108145
Japanese Encephalitis	Neutrophilia, Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Bilateral cryptorchidism, Pica, Open mouth, Cryptorchidism, Obsessiv...	OMIM:617796
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, Hypocalcemia, Alveolar ridge overgrowth, Thin upper lip vermilion, Smooth philtrum,...	ORPHA:1655
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormality of the dentition, Small hand, Toe syndactyly, Downturned cor...	ORPHA:238750
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ...	ORPHA:275864
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint h...	OMIM:212720
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Radioulnar synostosis, Talipes equi...	OMIM:245600
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Increased circulating IgE level, Failure to thrive in infancy, Splenomegaly, Autoimmun...	ORPHA:37042
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Insulin resistance, Dental crowding, Sandal gap, Abnorm...	ORPHA:813
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunoneurologic Disorder, X-Linked	Small for gestational age, Decreased circulating IgG2 level	OMIM:300076
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Cryptorchidism, Oligodontia, Hypodontia, En...	OMIM:613823
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Eosino...	ORPHA:449563
Spondyloocular Syndrome	Osteopenia, Abnormality of the dentition, Overlapping toe, Decreased body weight, Arachnodactyly,...	OMIM:605822
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Slc39A8-Cdg	Osteopenia, Cutaneous syndactyly of toes, Elbow flexion contracture, Failure to thrive in infancy...	ORPHA:468699
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Open mouth, Metatarsus valgus, Joint hypermobility, Short philtrum, Hyp...	ORPHA:2479
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Tracheomalacia, Pes cavus, Knee flexion contracture, Talipes equinovarus, Intrinsic hand muscle a...	OMIM:615490
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Bro...	OMIM:620073
Primary Hyperoxaluria	Abnormality of the dentition, Abnormal dental pulp morphology, Failure to thrive, Hyperoxaluria, ...	ORPHA:416
Mhc Class Ii Deficiency 1	Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Biliary tract abnormality, Agammag...	OMIM:209920
Trichothiodystrophy	High, narrow palate, Osteopenia, Carious teeth, Retrognathia, Panhypogammaglobulinemia, Multiple ...	ORPHA:33364
Andersen-Tawil Syndrome	Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Dental crowding, Hyperaldost...	ORPHA:37553
3P25.3 Microdeletion Syndrome	High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Mic...	ORPHA:435638
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Abnormal foot morphology, Joint hypermobility, Taurodontia, Attention defici...	OMIM:618205
Rhabdomyosarcoma, Embryonal, 2	Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter	OMIM:180295
Barber-Say Syndrome	Hypoplasia of the maxilla, Absent nipple, Dental malocclusion, Velopharyngeal insufficiency, Dela...	OMIM:209885
Cystathioninuria	Talipes equinovarus	ORPHA:212
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Lymphopenia, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity...	ORPHA:391307
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Long fingers, Motor stereotypy, Im...	OMIM:301029
Duplication Of The Pituitary Gland	Retrognathia, Abnormality of the plantar skin of foot, Self-mutilation, Abnormality of joint mobi...	ORPHA:314621
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cuta...	OMIM:236500
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Talipes equinovarus	OMIM:209770
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Impaired T c...	ORPHA:1830
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Leukodystrophy, Hypomyelinating, 24	Severe short stature, B lymphocytopenia	OMIM:619851
Familial Adenomatous Polyposis 1	Carious teeth, Odontoma, Eruption failure, Supernumerary tooth	OMIM:175100
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Clinodactyly, Elbow contracture, Short finger, Micrognathia, Irregular dentition,...	OMIM:615656
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Hepatomegal...	ORPHA:79330
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia, Sagittal craniosynostosis	OMIM:616901
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Osteopenia, Dental crowding, Elbow flexion contracture, Progressi...	OMIM:248370
Coffin-Siris Syndrome	Short 5th finger, Clinodactyly, Delayed eruption of teeth, Thick lower lip vermilion, Cryptorchid...	ORPHA:1465
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th finger, Tape...	OMIM:609638
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Toe syndactyly, Broad thumb, Retrognathia, Long philtrum, Overlapping toe, Thin upper lip vermili...	ORPHA:505237
Van Maldergem Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Downturned corners of...	OMIM:601390
Shaheen Syndrome	Carious teeth, Hypohidrosis, Enamel hypoplasia	OMIM:615328
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Osteomyelitis, Elevated circulating creatinine concentration, Hypocalcemia, Elev...	ORPHA:36234
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Abnormal hip bone m...	ORPHA:1597
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Micrognathia, Hyperactivity, Thick vermilion border, Hip dysplasia, Mot...	ORPHA:530983
Stickler Syndrome	Open bite, Slender build, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abn...	ORPHA:2634
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Downturned corners of mouth, Delayed erupt...	OMIM:135500
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the ulna...	OMIM:108720
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Mandibular prognathia, Hypoplasia of the radius	ORPHA:2252
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Pes planu...	OMIM:130070
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Downturned corners of mouth, Sandal gap, Obesity, Open mouth, Tented upper lip vermilion, Thin up...	OMIM:618430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Talipes equinovarus	OMIM:618845
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Contract...	OMIM:620141
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Decrea...	OMIM:226300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Cleft upper lip, Aplasia of ...	OMIM:308050
Dpm1-Cdg	High, narrow palate, Sandal gap, Failure to thrive, Long hallux, Micrognathia, Tented upper lip v...	ORPHA:79322
Bone Marrow Failure Syndrome 5	Growth delay, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating antibody...	OMIM:618165
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Failure to thrive, Cholestasis, Pancytopenia, Splenomegaly, Postaxial polydactyly, ...	OMIM:614576
Rauch-Steindl Syndrome	Failure to thrive, Long philtrum, Prominent crus of helix, Exocrine pancreatic insufficiency, Mic...	OMIM:619695
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Long philtrum, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Motor st...	OMIM:620502
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
22Q11.2 Deletion Syndrome	Abnormality of the dentition, Carious teeth, Failure to thrive, Multiple suture craniosynostosis,...	ORPHA:567
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Growth...	ORPHA:99812
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn...	OMIM:251230
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato...	OMIM:613027
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ...	ORPHA:90045
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Carious teeth, Microretrognathia, Slender long bone, Dela...	OMIM:278250
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Ar...	ORPHA:436003
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Dyggve-Melchior-Clausen Disease	Limitation of joint mobility, Genu valgum, Broad foot, Multicentric ossification of proximal hume...	OMIM:223800
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro...	OMIM:242900
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	2-3 toe cutaneous syndactyly, Widely spaced teeth, Bruxism, Narrow mouth, Cryptorchidism, Malar f...	OMIM:300260
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Sp...	OMIM:224120
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Talipes equinovarus, P...	OMIM:277590
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac...	OMIM:311200
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Short stature	ORPHA:1858
Radio-Tartaglia Syndrome	Precocious puberty, High, narrow palate, Dental crowding, Retrognathia, Long philtrum, Obesity, M...	OMIM:619312
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi...	OMIM:619377
Cardiofaciocutaneous Syndrome 3	Wide mouth, Reduced bone mineral density, Failure to thrive	OMIM:615279
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Failure to thrive, Thin upper lip vermilion, Smooth philtrum, Atten...	OMIM:620242
Familial Adenomatous Polyposis	Abnormal cementum morphology, Neoplasm of the gallbladder, Abnormality of the dentition, Pituitar...	ORPHA:733
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocy...	OMIM:267700
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Weight loss, Anorexia, Diabetes insipidus	ORPHA:178029
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Motor stereot...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Motor stereot...	ORPHA:353277
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Narrow palate, ...	OMIM:614188
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesis of perman...	OMIM:614091
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal lymphocyte mor...	ORPHA:293978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Gm1 Gangliosidosis	Mandibular prognathia, Abnormal epiphysis morphology, Coarse metaphyseal trabecularization, Abnor...	ORPHA:354
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of tee...	ORPHA:2348
Enamel-Renal Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Yellow-brown discolorati...	ORPHA:1031
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Micrognathia, Hepatic steatosis, Splenomegaly, P...	ORPHA:280365
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Joint hypermobility, ...	ORPHA:449291
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Internally rotated shoulders, Cholestasis, Hepatosplenomegaly...	OMIM:619503
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Downturned corners of mouth, Long fingers, High palate, Compulsive behav...	OMIM:613174
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Sandal gap, Arachnodactyly, Thin upper lip vermilion, Talipes equinovarus, Pes planus, High palat...	OMIM:617146
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Abnormality of the dentition, Malar prominence, Pes cavus, Talipes equinovarus, ...	OMIM:604168
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Micrognathia, Knee flexion contracture, Bilateral talipes equinovarus,...	ORPHA:284417
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-...	OMIM:613573
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Alstrom Syndrome	Abnormality of the dentition, Insulin-resistant diabetes mellitus, Decreased response to growth h...	OMIM:203800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia, Carious teeth, Enamel hypoplasia	OMIM:226670
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormal dental morphology, Hypophosphatemic rickets, Abnormal finger morphology, Abn...	OMIM:163200
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Dental crowding, Retrognathia, Gingival recession, Micrognathia, Joint hypermobil...	OMIM:618343
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Pendred Syndrome	Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Failure to thrive	OMIM:616069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy	OMIM:600795
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Bruxism, Delayed eruption of primary teeth, Aggressive beha...	OMIM:617799
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Hepatitis, Hypohidrosis, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Cronkhite-Canada Syndrome	Furrowed tongue, Splenomegaly, Cachexia, Anemia, Anorexia, Hepatomegaly, Tapered finger	ORPHA:2930
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ...	OMIM:618278
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Malar flattening, Enamel hypoplasia, Thin vermilion border, Ma...	ORPHA:139474
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Carious teeth, Widely spaced teeth, Hypoplasia of the capital femoral epip...	OMIM:253010
Doors Syndrome	Short lingual frenulum, Adrenal hyperplasia, Open mouth, Aplasia/Hypoplasia of the phalanges of t...	ORPHA:79500
Distal Deletion 12Q	Overlapping toe, Micrognathia, Obsessive-compulsive trait, Large hands, High, narrow palate, Medi...	ORPHA:96149
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cirrhosis, Neutropenia	OMIM:604250
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Overlapping fingers, Micrognathia, Overlapping toe, Postaxial...	OMIM:618142
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Retrognathia, Long philtrum, Overlapping toe, Thin upper lip vermilion, Talipes equi...	OMIM:617452
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Delayed puberty, Thromb...	ORPHA:77261
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder,...	OMIM:617600
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hypercalcemia, Hypophosphatemia, Calcinosis, Metaphyseal irregularity, Recurre...	OMIM:239200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Joint contracture of the hand, Limitation of joint mobility, Microg...	ORPHA:363528
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Monkey wrench femor...	OMIM:618870
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Long metacarpals, Long hallux, Micrognathia, Narrow mouth, Arachno...	OMIM:600920
Ritscher-Schinzel Syndrome 4	Narrow palate, Thick vermilion border, Joint hypermobility, Narrow palm, Motor stereotypy, Aggres...	OMIM:619435
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Natal tooth	ORPHA:99811
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Joint hypermobility	OMIM:617662
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchidism, Dysphagia, Genu varum, Hyp...	OMIM:264090
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck,...	OMIM:611209
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
5Q14.3 Microdeletion Syndrome	Motor stereotypy, Short philtrum, Toe syndactyly, Open mouth	ORPHA:228384
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomeg...	OMIM:615688
Ullrich Congenital Muscular Dystrophy 1A	Wrist hypermobility, Increased laxity of fingers, Joint hypermobility, Talipes equinovarus, High ...	OMIM:254090
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Supernumerary nipple,...	ORPHA:1001
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Cleft palate, Abnormally o...	ORPHA:1318
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Hypocalcemia	ORPHA:746
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, High palate, S...	OMIM:271665
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Joint stiffness, Cachexia	ORPHA:1216
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation...	OMIM:307200
Branchiootorenal Syndrome 1	Congenital hip dislocation, Bifid uvula, Branchial fistula, Branchial cyst, Euthyroid goiter, Mic...	OMIM:113650
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Breast aplasia, Hypoplastic nipples, Wide mouth	ORPHA:1231
Orofacial Cleft 15	Palate fistula, Single transverse palmar crease, Bilateral cleft palate, Bilateral cleft lip, Age...	OMIM:616788
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Weight loss, Acholi...	ORPHA:65682
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Oromandibular Dystonia	Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnormal mandible morphology...	ORPHA:93958
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Sclerosi...	OMIM:619727
Van Maldergem Syndrome 2	Osteopenia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, Dental malocclusion, Tracheo...	OMIM:615546
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Intrauterine g...	ORPHA:84064
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Xq28 (MECP2) duplication	Failure to thrive, Narrow mouth, Malar flattening, Motor stereotypy, Dysphagia	DECIPHER:45
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Failure to thrive, Cholestasis, Leukocytosis, Splenomegaly, Anem...	OMIM:615895
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased testicular size, Intrauterine growth retardation, Cryptorchidi...	OMIM:617053
Kinsship Syndrome	Mesomelia, Osteopenia, Mandibular prognathia, Failure to thrive, Downturned corners of mouth, Thi...	OMIM:619297
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Natal tooth, Micrognathia, Motor stereotypy, Dysphagia	OMIM:617802
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Fib...	OMIM:617925
Microhydranencephaly	Talipes equinovarus, Multiple joint contractures, Self-mutilation	OMIM:605013
Aspergillosis	Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand, Abnormality of the dentition	OMIM:616298
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Carious teeth, Delayed eruption of teeth, Long philtrum, ...	ORPHA:2834
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, 2-3 toe syndac...	OMIM:619121
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Retrognathia, Su...	ORPHA:217346
Pontocerebellar Hypoplasia, Type 8	Talipes valgus, Joint stiffness, Pes cavus, Tented upper lip vermilion, Talipes equinovarus, Dysp...	OMIM:614961
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Gardner Syndrome	Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma	ORPHA:79665
Intellectual Developmental Disorder, Autosomal Dominant 34	Widely spaced teeth, Bruxism, 2-3 toe syndactyly, Smooth philtrum, Short foot, Motor stereotypy	OMIM:616351
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Disinhibition	OMIM:612069
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Impaired T cell function, Retrognathia, Open mouth, Hypocalcemia, S...	OMIM:192430
Yellow Fever	Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter...	ORPHA:99829
Bloom Syndrome	Decreased circulating IgG level, Leukemia, Postnatal growth retardation, Decreased circulating Ig...	OMIM:210900
Riddle Syndrome	Short stature, Decreased circulating IgG level	OMIM:611943
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Diaphyseal un...	OMIM:151050
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Limited hip movement, Delayed pubic bone ossification, Malar flattening, Limited elb...	OMIM:183900
Foxg1 Syndrome	Bruxism, Stereotypical hand wringing, Decreased body weight, Motor stereotypy, Paroxysmal bursts ...	ORPHA:561854
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Downturned corners of mouth, Micrognathia, Narrow mouth, Thin upper...	OMIM:620029
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Radioulnar synostosis, High palate, Sho...	ORPHA:199
Adnp Syndrome	Broad thumb, Oral-pharyngeal dysphagia, Cryptorchidism, Polyphagia, Abnormal finger morphology, P...	ORPHA:404448
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys...	OMIM:618019
Dystonia, Dopa-Responsive	Talipes equinovarus, Pes cavus	OMIM:128230
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased cir...	ORPHA:51636
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Short ribs, M...	OMIM:241800
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Cowden Syndrome	Follicular thyroid carcinoma, Failure to thrive, Goiter, Furrowed tongue, Neoplasm of the thyroid...	ORPHA:201
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Joint hypermobility	ORPHA:2220
Atypical Werner Syndrome	Limitation of joint mobility, Failure to thrive, Finger clinodactyly, Sclerosis of hand bone, Neo...	ORPHA:79474
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon...	OMIM:601559
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Decreased circulating complement C4 c...	ORPHA:93552
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumb...	OMIM:211350
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Absent thumb, Retrognathia, Elbow flexion contracture, Bowed humerus, Bilateral talipes equinovarus	OMIM:618022
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Malar flattening, Fibular hypoplasia, Short r...	ORPHA:3144
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia	OMIM:618624
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ...	ORPHA:2655
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Short stature, Autoimmune thrombocy...	OMIM:607944
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili...	ORPHA:177907
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Everted lower lip vermilion, High palate, Motor stereotypy, Self-injurious behavior...	OMIM:620494
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, We...	ORPHA:420741
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Hip ...	ORPHA:818
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
White-Sutton Syndrome	Broad thumb, Micrognathia, Overfriendliness, Tics, High palate, Motor stereotypy, Self-injurious ...	OMIM:616364
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Genu valgum, Open mouth, Everted lower lip vermilion, Hepatomegaly, Motor ste...	OMIM:301066
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Hepatomegaly, Bone-...	ORPHA:75233
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Narrow palate, Short f...	OMIM:608328
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Eosinophilia, Lymphocytosis, Weight loss, Lymphadenopathy	ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Decreased circulating a...	OMIM:617425
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
X-Linked Dominant Chondrodysplasia Punctata	Lower limb asymmetry, Epiphyseal stippling, Upper limb asymmetry, High palate, Anterior rib punct...	ORPHA:35173
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Open mouth, Talipes equinovarus, Everted lower lip vermilion, Macroglossia, Wide mouth	OMIM:616789
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermil...	OMIM:618874
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Abnormal foot morphology, Overlapping toe, Micrognathia, Overlappin...	OMIM:617822
Glutamine Deficiency, Congenital	Micromelia, Hyperammonemia, Hypoglutaminemia, Camptodactyly, Flexion contracture, Thin vermilion ...	OMIM:610015
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot...	OMIM:129400
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Pes cavus, Tongue atrophy, Hammertoe	OMIM:601596
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased...	OMIM:181000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypogonadotropic hypogonadism, Cachexia, Cirrhosis, Weight loss, Anemia, Macrovesicular hepatic s...	ORPHA:298
Meckel Syndrome, Type 8	Talipes equinovarus, Cleft upper lip, Cleft palate, Polydactyly	OMIM:613885
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Knee flexion contracture, Hip contracture, Talipes equinovarus, Hypoplasia ...	OMIM:118650
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Increa...	OMIM:615846
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Failure to thrive, Angular cheilitis, Advanced eruption of teeth, ...	ORPHA:2309
Xp21 Deletion Syndrome	Finger clinodactyly, Joint hypermobility, Elevated circulating creatine kinase concentration, Eve...	ORPHA:261476
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Narrow mouth, Patellar aplasia, Arachno...	OMIM:265000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Thick vermilion border, Thin vermilion border, Supernumerary tooth, Abnormal me...	ORPHA:86818
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Overweight, Dental crowding, Persistence of hemoglobin F	OMIM:619769
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Thyroid Ectopia	Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the ...	ORPHA:95712
Familial Multiple Lipomatosis	Bowing of the long bones, Premature eruption of permanent teeth, Odontogenic keratocysts of the j...	ORPHA:199276
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease...	ORPHA:66628
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Open mouth, Cryptorchidism, Joint hypermobility, Motor stereotypy, Tracheobronc...	ORPHA:500159
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Microg...	OMIM:248700
Autosomal Dominant Progressive External Ophthalmoplegia	Failure to thrive, Goiter, Abnormality of the liver, Glucose intolerance, Hypothyroidism, Hyperth...	ORPHA:254892
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Macroglossia, Talipes equinovarus	OMIM:151800
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Periportal fibrosis, Natal tooth, Short toe, Lobulated tongue, Short finger...	OMIM:269860
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
X Small Rings	Toe syndactyly, Long philtrum, Upper limb undergrowth, Lower limb undergrowth, Joint hypermobilit...	ORPHA:96201
Bcard Syndrome	Osteopenia, Abnormality of the dentition, Contracture of the proximal interphalangeal joint of th...	OMIM:612394
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Long philtrum, Thick lower lip vermilion, Widely spaced teeth, Bruxism, ...	OMIM:618004
Prolidase Deficiency	Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphology, Genu valgum, Micro...	ORPHA:742
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy, Short philtrum, Tented upper lip vermilion	ORPHA:85277
Adrenomyodystrophy	Reduced bone mineral density, Failure to thrive	ORPHA:977
Takayasu Arteritis	Weight loss, Hyperhidrosis, Arthritis, Anorexia, Anemia	ORPHA:3287
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus	ORPHA:401815
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Diaphanospondylodysostosis	Tracheomalacia, Micrognathia, Absent in utero rib ossification, Absent in utero ossification of v...	OMIM:608022
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Long philtrum, Abnormal foot morphology, Decreased/absent ankle reflexes, Joint hyper...	ORPHA:477817
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Decreased body weight, ...	OMIM:261540
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery...	OMIM:612541
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease...	ORPHA:179494
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Focal Dermal Hypoplasia	Toe syndactyly, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Short metacarpal, Oligodo...	OMIM:305600
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Micrognathia, Me...	ORPHA:2839
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
46,Xx Gonadal Dysgenesis	Arachnodactyly, Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density	ORPHA:243
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia...	OMIM:308300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620292
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int...	ORPHA:391487
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Osteopenia, Joint contracture of the hand, Hypoplasia of the maxilla, Dental mal...	OMIM:182212
Cockayne Syndrome	Carious teeth, Abnormal epiphysis morphology, Dental malocclusion, Congenital contracture, Contra...	ORPHA:191
Ichthyosis, Congenital, Autosomal Recessive 11	Hypohidrosis, Conical primary incisor	OMIM:602400
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Rahman Syndrome	Camptodactyly, Talipes equinovarus	OMIM:617537
Endocrine-Cerebroosteodysplasia	Natal tooth, Sandal gap, Preaxial polydactyly, Thick upper lip vermilion, Fibular bowing, Microgn...	OMIM:612651
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated...	ORPHA:261236
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Hypomagnesemia...	OMIM:601678
Rothmund-Thomson Syndrome, Type 3	Osteopenia, Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Short digit, ...	OMIM:615789
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Acromesomelic Dysplasia 4	Mesomelia, Rhizomelia, Mandibular prognathia, Radial bowing, Short toe, Short finger, Sandal gap,...	OMIM:619636
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Clinodactyly, Long philtrum, Talipes equinovarus, Broad philtrum, Deep philtrum,...	ORPHA:397709
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Retrognathia, Talipes equinovalgus, Overlapping fingers, Hypodontia, ...	OMIM:301056
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Knee dislocation, Absent radius, ...	ORPHA:56305
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Thymoma, Androgen insufficiency...	ORPHA:85138
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Scarf Syndrome	Long philtrum, Cryptorchidism, Joint hypermobility, Short sternum, Hypoplastic nipples, Enamel hy...	ORPHA:3134
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Limb undergrowth, Long fing...	OMIM:608149
Congenital Muscular Dystrophy Due To Lmna Mutation	Joint hypermobility, Cachexia, Limitation of joint mobility, Flexion contracture	ORPHA:157973
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Micrognathia, Cryptorchidism, Self-mutilation, Decreased body weight, Attention ...	OMIM:619005
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity, Short stature, Cryptorchidism	ORPHA:3409
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Parotitis, Reduced circulating co...	ORPHA:289390
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Reduced circulating complement concentration, Lymphadenopathy, Splenomegaly	ORPHA:36412
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Talipes equinovarus, Clinodactyly of the 5th finger, Tapered finger	OMIM:617219
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Abnormality of the dentition, Obesity, Osteoporosis, Reduced bone mineral density, Recurrent frac...	ORPHA:2235
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss, Arthritis	ORPHA:3165
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Cerebrofacioarticular Syndrome	Self-injurious behavior, Osteopenia, Hypoplasia of the maxilla, Tracheomalacia, Micrognathia, Nar...	ORPHA:314679
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Alg12-Cdg	Failure to thrive, Abnormal circulating IgM level, Intrauterine growth retardation, Complete or n...	ORPHA:79324
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal...	ORPHA:1860
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Distal Deletion 6P	Self-injurious behavior, Abnormality of the dentition, Downturned corners of mouth, Micrognathia,...	ORPHA:96125
Teeth Present At Birth	Natal tooth	OMIM:187050
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Macroglossia, Clinodactyly, Long philtrum, Abnormal circulating lipid concen...	ORPHA:488632
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High pa...	ORPHA:1675
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Widely spaced teeth, Wide mouth, Thin upper lip vermilion, Motor stereotypy	OMIM:619877
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis...	OMIM:306400
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Genu valgum, Hypophosphatemic rickets	OMIM:618913
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Limb undergrowth, Small for gestational age, Increased serum pyruvate	ORPHA:79243
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multipl...	ORPHA:86822
8P23.1 Microdeletion Syndrome	Broad thumb, Obesity, Micrognathia, Cryptorchidism, Attention deficit hyperactivity disorder, Wei...	ORPHA:251071
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip verm...	OMIM:612530
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Micrognathia, Narrow mouth, Dysplasia of the femoral...	ORPHA:536471
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an...	OMIM:605274
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Motor stereoty...	OMIM:616268
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Long philtrum, Aplasia/Hypopla...	ORPHA:1358
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Radiou...	OMIM:154400
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Abnorm...	ORPHA:138
Pitt-Hopkins Syndrome	Small hand, Clinodactyly, Overlapping toe, Open mouth, Pes planus, Broad fingertip, Motor stereot...	OMIM:610954
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Long philtrum, Gingival overgrowth, Single transverse palmar crease, Joint hypermobility, Smooth ...	OMIM:619428
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Clinodactyly, Diastema, Thick lower lip vermilion, Radial deviation of fin...	OMIM:301040
Tarp Syndrome	Rocker bottom foot, Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polyda...	OMIM:311900
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Hypoplastic iliac wing, ...	ORPHA:2637
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Long hallux, Oligodontia, Bilateral camptodactyly, Smooth philtrum, Joint hypermo...	OMIM:619234
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph...	OMIM:617718
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Knee flexion contracture, Hip contracture	OMIM:620232
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the...	OMIM:618223
Lethal Congenital Contracture Syndrome 10	Long philtrum, Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Talipes equinovarus...	OMIM:617022
49,Xxxyy Syndrome	Finger clinodactyly, Abnormal plantar dermatoglyphics, Micrognathia, Bilateral talipes equinovaru...	ORPHA:261534
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Huntington Disease-Like 1	Abnormal shoulder morphology, Weight loss, Restlessness	ORPHA:157941
Coffin-Siris Syndrome 1	Cryptorchidism, Aplasia/Hypoplasia of the patella, High palate, Dislocated radial head, Short dis...	OMIM:135900
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Broad thumb, Sandal gap, Hamartoma of tongue, Micrognathia, Ulnar deviation of t...	OMIM:619775
1Q21.1 Microdeletion Syndrome	Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Joint ...	ORPHA:250989
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Short philtrum, Mo...	ORPHA:411986
Riboflavin Transporter Deficiency	Hypogonadism, Aggressive behavior, Cachexia, Diabetes insipidus, Dysphagia	ORPHA:97229
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Chromosome 18Q Deletion Syndrome	Bifid uvula, Toe syndactyly, Downturned corners of mouth, Cleft upper lip, Overlapping toe, Pes c...	OMIM:601808
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Developmental And Epileptic Encephalopathy 80	Short distal phalanx of finger, Long philtrum, Micrognathia, Tented upper lip vermilion, Protrudi...	OMIM:618580
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Joint stiffness, Gingival overgrowth, Abnormal corti...	ORPHA:93
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren...	OMIM:240300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Open mouth, Tented upper lip vermilion, Overfriendliness, Joint hypermobility, Thin upper lip ver...	OMIM:616579
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint hypermobility, Talipes equinovarus, Pes planus, Hallux valgus, Hip dislocation, Hyperextens...	OMIM:617821
Rett Syndrome	Abnormality of the dentition, Bruxism, Stereotypical hand wringing, Cachexia, Short foot	OMIM:312750
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension, H...	OMIM:619487
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Hammertoe, Multiple enchondromatosis, Multinodular goiter	OMIM:620189
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Bullous Pemphigoid	Weight loss, Diabetes mellitus, Oral mucosal blisters	ORPHA:703
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Limb undergrowth, Brachydactyly, Thi...	OMIM:617809
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equinovarus, Pes planus, Dis...	OMIM:271640
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High palate, Tarsal synostosis, Acc...	ORPHA:2750
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Failure to...	OMIM:269150
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Overlapping toe, Gingival overgrowth, Limited elbow exte...	OMIM:123790
Autosomal Recessive Dopa-Responsive Dystonia	Talipes equinovarus, Pes cavus	ORPHA:101150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Sandal gap, Long philtrum, Malar flattening, Hypocalcemia, Joint h...	OMIM:620330
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Micrognathia, Hand polydactyly, Attention deficit hyperactivity disor...	ORPHA:261197
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ...	ORPHA:97283
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co...	ORPHA:288
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Polydipsia, Pancreatic ade...	ORPHA:143
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, ...	OMIM:181405
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Anemia, Weight loss, Lymphadenopathy, Abnorma...	ORPHA:85450
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short hallux, Cleft maxillary alveolar ridge, Short 5th finger, Abnormal cricoid ...	ORPHA:508488
Laing Early-Onset Distal Myopathy	High palate, Talipes cavus equinovarus, Toe extensor amyotrophy, Abnormal calf musculature morpho...	ORPHA:59135
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Long philtrum, 2-4 toe cutaneous syndac...	OMIM:607330
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Rett Syndrome, Congenital Variant	Bruxism, Thin upper lip vermilion, Talipes equinovarus, Pes planus, Tongue thrusting, Motor stere...	OMIM:613454
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Orchitis, Vaginal hydrocel...	ORPHA:2035
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip, Failure to thrive	OMIM:620519
Juvenile Huntington Disease	Weight loss, Hyperactivity	ORPHA:248111
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Narrow mouth, Joint hypermobility, Talipes equinovarus, Adducted thum...	OMIM:219150
Immunodeficiency 87 And Autoimmunity	Growth delay, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Intrau...	OMIM:619573
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas	ORPHA:935
Larsen Syndrome	Tracheomalacia, Cleft upper lip, Elbow dislocation, Knee dislocation, Talipes equinovalgus, Acces...	OMIM:150250
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Malt Lymphoma	Anemia, Weight loss, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eru...	OMIM:149730
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Short ribs, Postaxial polydactyly, Short clavicles, Median cleft upper lip...	OMIM:617088
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ...	ORPHA:158687
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abnormal metaphysis...	ORPHA:93274
Campomelic Dysplasia	Hip dislocation, Tracheomalacia, Micrognathia, Femoral bowing, Tibial bowing, Fibular hypoplasia,...	ORPHA:140
Teebi-Shaltout Syndrome	High, narrow palate, Prominent palatine ridges, Narrow mouth, Single transverse palmar crease, Ol...	OMIM:272950
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Cryptorchidism, Broad fingertip, Dislocated radial head, Restlessnes...	ORPHA:2044
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil...	ORPHA:183675
Bainbridge-Ropers Syndrome	Precocious puberty, Self-injurious behavior, Dental crowding, Retrognathia, Failure to thrive, Su...	OMIM:615485
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Pearson Syndrome	Bone marrow hypocellularity, Hypomagnesemia, Median cleft palate, Hypocalcemia, Hypokalemia, Hypo...	ORPHA:699
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Aphthous ulcer, Weight loss	OMIM:266600
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Talipes equinovarus, Microretrognathia, Narrow mouth, Malar flattening	OMIM:177980
Immunodeficiency 59 And Hypoglycemia	Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u...	OMIM:233600
Nijmegen Breakage Syndrome	Intrauterine growth retardation, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytope...	OMIM:251260
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Narrow mouth, Malar flattening, Bowing of the long bones, Talipes equin...	OMIM:224410
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus, Micrognathia	ORPHA:544469
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Caudal Regression Syndrome	Joint stiffness, Talipes equinovarus, Orofacial cleft, Impulsivity, Abnormal vertebral segmentati...	ORPHA:3027
Native American Myopathy	Bifid uvula, Congenital contracture, Downturned corners of mouth, Micrognathia, Submucous cleft s...	ORPHA:168572
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Image Syndrome	Micromelia, Metaphyseal dysplasia	ORPHA:85173
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long...	ORPHA:3103
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Narro...	ORPHA:96334
Nail-Patella Syndrome	Triceps aplasia, Elongated radius, Cleft upper lip, Quadriceps aplasia, Hypoplastic radial head, ...	OMIM:161200
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Phelan-Mcdermid Syndrome	Dental malocclusion, Long philtrum, Widely spaced teeth, Bruxism, Micrognathia, Malar flattening,...	OMIM:606232
Rheumatoid Arthritis	Rheumatoid arthritis, Joint stiffness, Interphalangeal joint erosions, Weight loss, Swan neck-lik...	OMIM:180300
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Microg...	OMIM:224690
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Abnormal temper tantrums, Hypoglycemia, Supernumerary nipple, Long ph...	ORPHA:457279
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Broad foot, Pes planus, Self-injurious behavior, Slender finger, Thi...	OMIM:619841
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Thin upper lip vermilion, Short philtrum, Talipes equinovarus, Thick vermilion bord...	OMIM:619493
Beta-Thalassemia	Abnormality of iron homeostasis, Reduced bone mineral density	ORPHA:848
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of tongue, Acetabular spurs, ...	OMIM:613091
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density, High palate	ORPHA:2720
Carey-Fineman-Ziter Syndrome 1	Microglossia, Retrognathia, Pectoralis hypoplasia, Micrognathia, Talipes equinovarus, Tapered fin...	OMIM:254940
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Radioulnar synostosis,...	ORPHA:904
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia	ORPHA:251393
Monosomy 13Q34	Postaxial foot polydactyly, Obesity, Micrognathia, Postaxial hand polydactyly, Hypercalcemia	ORPHA:96168
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Failure to thrive, Postnatal gro...	ORPHA:83617
Gitelman Syndrome	Hypermagnesemia, Failure to thrive, Hypomagnesemia, Gout, Hypocalcemia, Hypokalemia, Primary hype...	ORPHA:358
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-...	OMIM:164200
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Hy...	ORPHA:672
Lissencephaly 8	Talipes equinovarus	OMIM:617255
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Flared metaphysis, Micrognath...	OMIM:618150
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Failure to thrive, Inappropriate laughter, Motor stere...	OMIM:615802
Loeys-Dietz Syndrome 5	Bifid uvula, Bilateral coxa valga, Retrognathia, Cleft soft palate, Tented upper lip vermilion, J...	OMIM:615582
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint hypermobility, Talipes equinovarus, Adducted thumb, Hip dislocation	OMIM:616603
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Ankyloglossia, Micrognathia, Osteoporosis, Supernumerary tooth	OMIM:619525
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Genitopatellar Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Micrognat...	OMIM:606170
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Glucocortocoid-in...	ORPHA:171876
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Increased overbite	OMIM:618504
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Mic...	OMIM:275210
Progeria-Short Stature-Pigmented Nevi Syndrome	Small for gestational age, Microcytic anemia, Hepatic steatosis, Delayed puberty, Short stature, ...	ORPHA:2959
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Failure to thrive	OMIM:239199
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Failure to thrive	OMIM:614328
Campomelic Dysplasia	Delayed epiphyseal ossification, Carious teeth, Shortening of all phalanges of fingers, Contractu...	OMIM:114290
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Broad thumb, Micrognathia, Exaggerated cupid's bow, Talipes equinovarus, Macroglossia,...	OMIM:614501
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Failure to thrive, Cholestasis, Intrauterine growth retardation, Splenomegaly, ...	OMIM:222470
X-Linked Creatine Transporter Deficiency	Open mouth, Malar flattening, Self-mutilation, Joint hypermobility, Cachexia, Hyperactivity	ORPHA:52503
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Juvenile rheumatoid arthritis, Narrow palate, G...	OMIM:266270
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th...	ORPHA:2879
Glycogen Storage Disease Iv	Talipes equinovarus, Flexion contracture, Arthrogryposis multiplex congenita	OMIM:232500
Primrose Syndrome	Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, Tics, High palate, R...	OMIM:259050
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Pes cavus, Talipes equinovarus, Progressive flexion contractures, Compulsiv...	ORPHA:98808
Huntington Disease-Like 2	Weight loss	OMIM:606438
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphys...	OMIM:214100
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Xerostomia, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx...	OMIM:620193
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormality of the dentition, Thick lower lip vermilion, Joint stiffness...	ORPHA:847
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Micrognathia, Single transverse palmar crease, Talipes equinovarus...	OMIM:214110
Graft Versus Host Disease	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acut...	ORPHA:39812
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:79329
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Failure to thrive, Hepatic amyloidosis, Decrea...	ORPHA:470
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Absent nipple, Carious teeth, Broad hallux, Clinodactyly, Natal tooth, Branchial cys...	OMIM:620186
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615577
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow ...	ORPHA:2021
Halperin-Birk Syndrome	Pseudobulbar paralysis, Micrognathia, High palate, Talipes equinovarus, Thick vermilion border, F...	OMIM:618651
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Narrow palate, Retrognathia, Long philtrum, Narrow mouth, Malar flattening, Smooth philtrum, Tali...	OMIM:604314
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea...	ORPHA:90363
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Short ribs, Postaxial polydactyly, Hypoplasia of the...	OMIM:617895
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial hand polydactyly	ORPHA:2491
Congenital Disorder Of Glycosylation, Type Ih	Camptodactyly, Talipes equinovarus, Long philtrum	OMIM:608104
Synaptic Congenital Myasthenic Syndromes	Hand muscle weakness, Triangular mouth, Limited wrist extension, Talipes equinovarus, Dysphagia, ...	ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 48	Open mouth, Joint hypermobility, Hyperactivity, Tracheobronchomalacia, Motor stereotypy	OMIM:617751
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Femoral bowing, Ulnar bowi...	OMIM:620076
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Talipes equ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Talipes equ...	ORPHA:352665
Arthrogryposis Multiplex Congenita 5	Hand clenching, Long philtrum, Elbow flexion contracture, Micrognathia, Talipes equinovarus, Pes ...	OMIM:618947
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes equinovarus, ...	OMIM:616145
Charcot-Marie-Tooth Disease, Type 4D	Talipes cavus equinovarus, Pes cavus, Claw hand deformity, Hammertoe	OMIM:601455
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Recurrent hand flapping, Protruding tongue, Aggressive behavior, Attention defici...	OMIM:619580
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Overlapping toe, Micrognathia, Gingival overgrowth, R...	OMIM:213980
Focal Myositis	Weight loss, Limitation of joint mobility	ORPHA:48918
Houge-Janssens Syndrome 3	Self-injurious behavior, Single transverse palmar crease, Attention deficit hyperactivity disorde...	OMIM:618354
Alexander Disease Type I	Cachexia, Dysphagia, Failure to thrive	ORPHA:363717
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Frequent te...	OMIM:619103
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Oral aversion, Weight loss, Thrombocytosis, ...	ORPHA:134
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Weight loss, Anemia, Dysphagia	ORPHA:2070
Jaberi-Elahi Syndrome	Hand clenching, Joint stiffness, Joint hypermobility, Triangular mouth, Talipes equinovarus	OMIM:617988
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, Self-mutilation, Joint hypermobility, Thin upper lip vermilion, Smooth philtru...	ORPHA:522077
Al Amyloidosis	Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level, Anemia, Weig...	ORPHA:85443
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g...	ORPHA:99867
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Hypohidrosis, Short philtrum, Cleft palate	OMIM:617337
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Anemia, Flexion contracture, Dysphagia	OMIM:226600
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Tracheomalacia, Patellar hypoplasia, Micrognathia, ...	OMIM:613803
Developmental And Epileptic Encephalopathy 6B	Motor stereotypy, Narrow mouth	OMIM:619317
20Q13.33 Microdeletion Syndrome	Smooth philtrum, Talipes equinovarus, Pes planus, Abnormal limb bone morphology, Hallux valgus, T...	ORPHA:261311
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced teeth, Absent cupid's bow,...	ORPHA:513456
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypophosphatemia, Hypercalcemia, Mandibular pain	ORPHA:99880
Optic Atrophy 11	Bilateral talipes equinovarus, Attention deficit hyperactivity disorder, Hyperactivity, Stereotyp...	OMIM:617302
Yao Syndrome	Weight loss, Xerostomia, Arthritis, Oral ulcer	OMIM:617321
Tetrasomy 5P	Long philtrum, Overlapping toe, Micrognathia, Talipes equinovarus, Short hallux, Long fingers, Cl...	ORPHA:3309
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes cavus, Talipes equinovarus, Pes planus, Areflexia of lower limbs, Hyporeflexia of lower limbs	OMIM:256850
Lethal Congenital Contracture Syndrome 9	Joint contracture of the hand, Congenital contracture, Micrognathia, Thin upper lip vermilion, Ta...	OMIM:616503
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of the thyroid gland, Short hard palate, Cachexia, Anorexia, Genu ...	ORPHA:1969
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Craniosynostosis, Talipes equinovarus, Micrognathia	OMIM:601374
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Retrognathia, Widely spaced teeth, 2-4 toe cutaneous syndactyly, Abnormal foot mor...	ORPHA:268261
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hyperbilirubinemia, Hip contr...	OMIM:210710
22Q11.2 Duplication Syndrome	Aplasia/Hypoplasia of the thymus, Micrognathia, Smooth philtrum, Attention deficit hyperactivity ...	ORPHA:1727
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level...	ORPHA:97287
Whipple Disease	Insulin resistance, Polydipsia, Splenomegaly, Cachexia, Hypothyroidism, Anemia, Arthritis, Anorex...	ORPHA:3452
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Osteopenia, Hip subluxation, Elbow flexion contracture, Generalized joint hy...	ORPHA:1900
Spastic Paraplegia 51, Autosomal Recessive	Short philtrum, Talipes equinovarus, Flexion contracture, Wide mouth	OMIM:613744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Arachnodactyly, Motor st...	ORPHA:261537
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyper...	OMIM:160980
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabec...	ORPHA:1775
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil...	OMIM:616894
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Cryptorchidism, Polyphagia, High palate, Motor stereotypy, ...	ORPHA:96121
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating...	ORPHA:95409
Neuroblastoma	Anemia, Weight loss, Lymphadenopathy, Thrombocytopenia	ORPHA:635
Thyroid Hypoplasia	Jaundice, Macroglossia, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodo...	OMIM:607626
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Increased susceptibility to fra...	ORPHA:216866
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh...	ORPHA:95427
Idiopathic Bronchiectasis	Cachexia, Clubbing	ORPHA:60033
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Retrognathia, Malar flattening, Joint hypermobilit...	OMIM:614816
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Type I diabetes mellitus, Delayed eruption of teeth, Breast aplasia...	ORPHA:2036
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Limitation of joint mobility, Clinodactyly, Narrow mouth, Humeroradial synostosis, Arachnodactyly...	ORPHA:95699
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr...	OMIM:301110
Monosomy 18Q	Mandibular prognathia, Downturned corners of mouth, Thick vermilion border, Open mouth, Joint hyp...	ORPHA:1600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Congenital hip dislocation, Arthrogryposis multiplex congenita, Failure ...	OMIM:619512
Mucolipidosis Type Ii	Limitation of joint mobility, Limited wrist movement, Decreased movement range in interphalangeal...	ORPHA:576
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, Bilateral coxa valga, Widely spaced teeth, Absent A...	OMIM:618268
Wiedemann-Steiner Syndrome	Clinodactyly, Long philtrum, Failure to thrive, Decreased response to growth hormone stimulation ...	ORPHA:319182
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Retrognathia	OMIM:191830
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cryptorchidism, Bilateral cleft palate, Short hard palate, Anterior...	OMIM:610829
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Micromelia, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thu...	ORPHA:1908
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97278
Hydrolethalus	Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Micrognathia, Submuc...	ORPHA:2189
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma...	ORPHA:793
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Weight loss, Pancreatitis, Anorexia, Anemia, Jaundice, Ovarian neoplasm, Neop...	ORPHA:370348
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Limitation of joint mobility, Progressive alveolar ridge hyp...	OMIM:252500
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Downturned corne...	ORPHA:99885
Alg8-Cdg	Camptodactyly, Macroglossia, Talipes equinovarus, Brachydactyly	ORPHA:79325
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hyperkalemia, Hyponatremia, Hypocalcemia	ORPHA:544482
Polycythemia Vera	Gingival bleeding, Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis,...	ORPHA:729
Farber Disease	Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intra...	ORPHA:333
Trisomy 10P	Retrognathia, Abnormal lip morphology, Thumb contracture, Short toe, Abnormal foot morphology, Ab...	ORPHA:171929
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Bilateral coxa valga, Patellar hypoplasia, Narrow mouth, Patellar aplasia, Singl...	ORPHA:495818
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Talipes equinovarus,...	OMIM:619124
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Hypoglycemia, Long philtrum, Thyroid carcinoma, Micrognathia, Joint hypermobility, H...	ORPHA:109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia, Cleft palate	ORPHA:2237
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Talipes equinovarus, Micrognathia, Congenital contracture	OMIM:619036
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Decreased body weight, Everted lower ...	ORPHA:2152
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, De...	ORPHA:99776
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Hyperbilirubinemia, Micrognathia...	OMIM:619991
Mucopolysaccharidosis, Type Vii	Limitation of joint mobility, Widely spaced teeth, Joint stiffness, Gingival overgrowth, Genu val...	OMIM:253220
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Failure to thrive, Malar flattening, Joint hypermobility, Aggressive behav...	OMIM:300352
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Smooth philtrum, Motor stereotypy, Everted lower lip vermilion, Macro...	ORPHA:261144
Microsporidiosis	Brain abscess, Hepatitis, Abnormality of the parathyroid gland, Anorexia, Abnormality of the sple...	ORPHA:2552
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, An...	ORPHA:20
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97261
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, ...	ORPHA:100075
Holocarboxylase Synthetase Deficiency	Weight loss, Thrombocytopenia, Anorexia	ORPHA:79242
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Cleft lip, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Microdontia	ORPHA:1765
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th...	OMIM:249000
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Systemic Lupus Erythematosus	Leukopenia, Decreased circulating complement C4 concentration, Weight loss, Lymphadenopathy, Thro...	ORPHA:536
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov...	OMIM:613070
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Talipes equinovarus, Camptodactyly of finger	OMIM:604320
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Hyperhidrosis	ORPHA:99868
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Frontometaphyseal Dysplasia 2	Bifid uvula, Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Dis...	OMIM:617137
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Talipes equinovarus, Preaxial hand polydactyly	OMIM:601389
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Orofaciodigital Syndrome Type 14	Microretrognathia, Postaxial foot polydactyly, Broad hallux, Hamartoma of tongue, Accessory oral ...	ORPHA:434179
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatic steatosis, Cachexia, Distal arthrogryposis, Hepatomegaly	ORPHA:42
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Macroglossia	ORPHA:79107
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor...	ORPHA:100080
Chronic Beryllium Disease	Weight loss, Abnormal proportion of CD4-positive T cells	ORPHA:133
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal...	ORPHA:1827
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Abnormality of the dentition, Small hand, Short distal phalanx of f...	ORPHA:1596
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Slender build, Increased serum estrad...	ORPHA:3455
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Orofacial cleft, Adrena...	ORPHA:2166
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:99889
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia	OMIM:277700
Digeorge Syndrome	High, narrow palate, Bifid uvula, Impaired T cell function, Obesity, Micrognathia, Intervertebral...	OMIM:188400
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Tracheomalacia, Long philtrum, Ankyloglossia, Micrognathia, Cryptorchidis...	ORPHA:2745
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Cryptorchidism, Short stern...	OMIM:312830
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger, Hyperactivity	OMIM:222748
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Clubbing	ORPHA:79127
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Short stature	ORPHA:634
Schisis Association	Unilateral cleft lip, Small for gestational age, Micromelia, Cleft palate	ORPHA:63862
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Hijazi-Reis Syndrome	Motor stereotypy, Ankle clonus	OMIM:301094
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Familial Colorectal Cancer Type X	Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Attention deficit hy...	ORPHA:440437
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Arachnodactyly, Motor st...	ORPHA:261552
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Delayed puberty, Lymphadenopath...	ORPHA:168569
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal fingertip morphology, Motor stereotypy	ORPHA:529965
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tent...	OMIM:619777
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm...	ORPHA:653
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Motor stereotypy, Failure to thrive, Agitation	ORPHA:927
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Impa...	ORPHA:3132
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, High palat...	OMIM:309590
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Neuroendocrine neoplasm, Anorexia, Hepatic cysts, Intermittent jaundic...	ORPHA:100085
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Radioulnar synostosis, Short hallux, Motor stereotypy, Hip dislocat...	OMIM:194190
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Overlapping toe, Gingival overgrowth, Protruding tongue, Limb undergrowth, Abn...	ORPHA:99843
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Knee flexion contracture	ORPHA:3208
Rett Syndrome	Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M...	ORPHA:778
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Orofacial cleft, Weight loss, Arthritis	ORPHA:92050
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Hemiatrophy, Stippled calcification in carpal bones, Epiphyseal stippling, Malar flat...	OMIM:302960
Johanson-Blizzard Syndrome	Downturned corners of mouth, Failure to thrive, Long philtrum, Agenesis of permanent teeth, Hypop...	OMIM:243800
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Median ...	OMIM:617746
Wilson Disease	Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Increased circulating copper con...	OMIM:277900
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Bilateral Polymicrogyria	Arthrogryposis multiplex congenita, Pseudobulbar paralysis, Micrognathia, Talipes equinovarus, Wi...	ORPHA:268940
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Genu varum, Abnormal oral mucos...	ORPHA:2753
White-Sutton Syndrome	Self-injurious behavior, Downturned corners of mouth, Obesity, Open mouth, Narrow mouth, Malar fl...	ORPHA:468678
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Short thumb, Cleft upper lip, Oral...	OMIM:263650
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, Failure to thrive, 11 pairs of ribs, Adducted thumb	ORPHA:50810
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad thumb, Short thumb, Broad hallux, Micrognathia, Pes planus, High palate, Bilateral talipes ...	OMIM:620224
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Failure to thrive in infancy, Hepatosplenomegaly, Intrauterine growth retardation, H...	ORPHA:247598
Giant Cell Arteritis	Joint stiffness, Weight loss, Hyperhidrosis, Arthritis, Anorexia, Glossitis, Diabetes insipidus	ORPHA:397
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Micrognathia, Orofacial cleft, Short lower limbs, Reduced bone...	ORPHA:1556
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Ulnar deviation of finger, Long philtrum, Camptod...	ORPHA:1101
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Hyperbilirubinemia, Everted lower lip vermilion, High palate, Syndact...	OMIM:613610
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Broad hallux, Micromelia, Hypoplasia of the zygomatic bone, Long philtrum, Brachydact...	OMIM:614800
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Self-mutilation, Thin upper lip vermilion, Hyperactivity, Short philtrum, ...	OMIM:300486
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Dental crowding, Shoulder girdle muscle we...	ORPHA:2020
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Cryptorchidism, Evert...	OMIM:601803
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic fibrosis, Failure to thrive, Decreased circulating IgA l...	OMIM:212065
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperhidrosis, Oral leukoplakia	OMIM:167210
Carney Triad	Anemia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Fractures of the long bones, Widely spaced teeth, Micrognathia, Motor...	ORPHA:496641
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Ankle flexion contracture, Microretrognathia, Retrognathia, Camptodactyl...	ORPHA:468631
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Tarsal sclerosis, Small for gestational age, Hypotriglyceridemia, Fai...	ORPHA:404454
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,...	ORPHA:906
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor...	ORPHA:100082
Ménétrier Disease	Weight loss, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Congenital contracture, Long philtrum, Camptodactyly of finger, Elbow contra...	OMIM:208150
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Carious teeth, Micrognathia, Cryptor...	ORPHA:2363
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Open mouth, Single transverse palmar crease, Talipes equinovarus, High ...	OMIM:619743
D-Bifunctional Protein Deficiency	Osteopenia, Retrognathia, Long philtrum, Micrognathia, Talipes equinovarus, Split hand, High pala...	OMIM:261515
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Macrocytic anemia, ...	OMIM:250250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Broad phalanx, Motor stereotypy, Hip dislocation, Fus...	ORPHA:508498
Glossopharyngeal Neuralgia	Weight loss, Mandibular pain, Abnormal palate morphology, Oral-pharyngeal dysphagia	ORPHA:221098
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss, Arthritis, Sinusitis, Dysphagia	ORPHA:183
Systemic Capillary Leak Syndrome	Weight loss, Pancreatitis, Leukocytosis	ORPHA:188
Lethal Kniest-Like Dysplasia	Flared metaphysis, Mesomelic/rhizomelic limb shortening, Talipes equinovarus, Brachydactyly, Clef...	ORPHA:2347
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas...	ORPHA:91500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Neonatal hypoglycemia, Abnormal circulating dehydroepiandroste...	ORPHA:90794
Sotos Syndrome	Abnormality of the dentition, Ankle flexion contracture, Agenesis of permanent teeth, Acute lymph...	ORPHA:821
Charge Syndrome	Bifid femur, Short thumb, Cleft upper lip, Micrognathia, Malar flattening, Hypocalcemia, Down-slo...	OMIM:214800
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi...	ORPHA:100086
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Open mouth, Talipes equinovarus, High palate, Flexion contracture, Limited hip ex...	OMIM:614653
Williams-Beuren Syndrome	Osteopenia, Dental malocclusion, Long philtrum, Thick lower lip vermilion, Failure to thrive in i...	OMIM:194050
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Pemphigus Vulgaris	Erosion of oral mucosa, Weight loss, Recurrent cutaneous abscess formation, Oral mucosal blisters	ORPHA:704
Prune Belly Syndrome	Congenital hip dislocation, Talipes equinovarus	OMIM:100100
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Clinodactyly, Talipes calcaneovalgus, Micrognathia, Open mouth, Protruding tongue, Genu valgum, T...	OMIM:309580
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Hypoplasia of the zygomatic bone, Talipes equinovarus, Short philtrum, Mandibu...	OMIM:613603
Reactive Arthritis	Osteomyelitis, Recurrent aphthous stomatitis, Joint stiffness, Weight loss, Arthritis, Cartilage ...	ORPHA:29207
Restrictive Dermopathy	Osteopenia, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Micrognathia...	ORPHA:1662
Alpha-Mannosidosis, Infantile Form	Osteopenia, Macroglossia, Cranial hyperostosis, Widely spaced teeth, Talipes valgus, Abnormality ...	ORPHA:309282
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Genu valgum, Micrognathia, Joint hypermobility, Metatarsus adductus, High palate, Sho...	ORPHA:300570
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin...	OMIM:250220
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ...	OMIM:614976
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Abnormal temper tantrums, Limitation of joint mobility, Contractures of the l...	ORPHA:580
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Premature loss of teeth, Multinodular goiter	OMIM:618373
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Slender finger, Micrognathia, Pes cavus, Talipes e...	OMIM:251300
Prune Belly Syndrome	Talipes equinovarus, Congenital hip dislocation	ORPHA:2970
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy	ORPHA:32960
Rat-Bite Fever	Septic arthritis, Parotitis, Oligoarthritis, Weight loss, Pancreatitis, Arthritis, Anemia	ORPHA:31205
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Weight loss, Hepatomegaly, Clubbing	ORPHA:79128
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Temporomandibular joint crepitus, Head-banging, Bruxism, Ac...	ORPHA:2388
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Knee dislocation, Abnormal foot morphology, Micrognathia,...	ORPHA:536545
Pilarowski-Bjornsson Syndrome	Motor stereotypy, Prominent fingertip pads	OMIM:617682
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Congenital hip dislocation, Dental crowding, Joint hypermobility, Arachnodactyly, Tal...	OMIM:225400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Self-injurious behavior, Head-banging, Failure to thrive, Frequent temper ta...	OMIM:619575
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of...	ORPHA:319675
Vici Syndrome	Short stature, Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Tal...	OMIM:119500
Perry Syndrome	Weight loss	ORPHA:178509
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Genu valgum, Talipes equinovarus, Tics, High palate, Motor stereotypy, High, narro...	OMIM:619475
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia, Hip dislocation	ORPHA:572013
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, High, narrow palate, Broad thumb, Broad phalanx of the toes, Narrow mou...	ORPHA:79076
Budd-Chiari Syndrome	Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega...	ORPHA:131
Cog1-Cdg	Osteopenia, Rhizomelia, Long philtrum, Micrognathia, Narrow mouth, Thin upper lip vermilion, Smoo...	ORPHA:263508
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Overlapping toe, Narro...	OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Osteopenia, Microretrognathia, Long philtrum, Oral-pharyngeal dysphagia, Joi...	OMIM:300966
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Clinodactyly, Abnormal circulating lipid concentration, Limb undergrowth, Trun...	OMIM:616541
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Dental crowding, Downturned corners of mouth, Retrognathia, Widely spaced teeth, Clin...	OMIM:301044
Wolf-Hirschhorn Syndrome	Downturned corners of mouth, Cleft upper lip, Abnormal lip morphology, Short thumb, Abnormal foot...	ORPHA:280
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Hip dislocation, Short toe, Postaxial ...	OMIM:270400
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Aplasia/H...	ORPHA:2911
Simpson-Golabi-Behmel Syndrome	Polysplenia, Supernumerary nipple, Increased circulating IgE level, Splenomegaly, Pancreatic isle...	ORPHA:373
Van Esch-O'Driscoll Syndrome	Bifid uvula, Downturned corners of mouth, Retrognathia, Spina bifida occulta, Hypogonadotropic hy...	OMIM:301030
Perry Syndrome	Weight loss, Inappropriate behavior, Disinhibition	OMIM:168605
Acrodermatitis Enteropathica	Failure to thrive, Furrowed tongue, Weight loss, Anorexia, Glossitis, Cheilitis	ORPHA:37
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Aggressive behavior, Mesiodens	ORPHA:314647
Polymyositis	Hepatomegaly, Weight loss, Arthritis, Anorexia	ORPHA:732
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Primary adrenal i...	ORPHA:275761
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Cleft upper lip, Talipes equinovarus, Postaxial hand polydactyly, Cle...	OMIM:612284
Autosomal Recessive Spastic Paraplegia Type 55	Talipes equinovarus, Arthrogryposis multiplex congenita, Tibialis muscle weakness	ORPHA:320375
Juvenile Neuronal Ceroid Lipofuscinosis	Motor stereotypy, Dysphagia	ORPHA:79264
Duane Retraction Syndrome	Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr...	ORPHA:233
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Overlapping fingers, Micrognathia, Knee flexion contracture, Absent uvula, Bilateral talipes equi...	OMIM:619708
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Trisomy 18	Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Na...	ORPHA:3380
Xfe Progeroid Syndrome	Cachexia, Enamel hypoplasia, Failure to thrive, Premature loss of teeth	OMIM:610965
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy	OMIM:619725
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Growth delay, Failure to thrive	OMIM:615508
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Radio-Renal Syndrome	High, narrow palate, Micromelia, Downturned corners of mouth, Retrognathia, Micrognathia, Hypopla...	ORPHA:3015
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Thin upper lip vermilion, Talipes equinovarus, Ulnar deviation...	OMIM:616263
Marfan Syndrome	High, narrow palate, Osteopenia, Dental crowding, Retrognathia, Open bite, Slender build, Microgn...	ORPHA:558
Hydroxykynureninuria	Motor stereotypy, Stomatitis	ORPHA:79155
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:610042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Failure to thrive, Oral mucosal blisters, Enamel hypoplasia, Anemia, Craniosynostosis	ORPHA:79396
Alg9-Cdg	Bifid uvula, Rhizomelia, Microretrognathia, Long philtrum, Flared metaphysis, Micrognathia, Thin ...	ORPHA:79328
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, High palate, Motor stereotypy, Self-injurious behavio...	OMIM:612474
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto...	ORPHA:31150
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Cowden Syndrome 7	Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter	OMIM:616858
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Neutropenia, Anorexia	ORPHA:79430
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Failure to thrive	OMIM:256700
1P36 Deletion Syndrome	Abnormality of the spleen, Narrow mouth, Hepatic steatosis, Cryptorchidism, Polyphagia, Foot poly...	ORPHA:1606
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Amyotrophic Lateral Sclerosis	Xerostomia, Cachexia, Dysphagia, Tongue atrophy, Agitation	ORPHA:803
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, Single transverse palmar crea...	OMIM:300707
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
Tetrasomy 9P	Bifid uvula, Small hand, Dental crowding, Downturned corners of mouth, Inappropriate behavior, Ab...	ORPHA:3310
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Long philtrum, Cryptorchidism, Advanced eruption of teeth, Orofacia...	ORPHA:1519
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Talipes equinovarus, Glossitis, High palate, Stomatitis	OMIM:277380
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hypercalcemia	ORPHA:276621
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Jaundice, H...	OMIM:300855
Fatal Familial Insomnia	Weight loss, Dysphagia, Hyperhidrosis	OMIM:600072
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epiphyseal stippling, Micrognathia, Single transverse palmar crease, Talipes equinovarus, Cubitus...	OMIM:614866
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Neuromuscular Oculoauditory Syndrome	Talipes equinovarus, Wrist flexion contracture, Calf muscle hypertrophy, Knee flexion contracture	OMIM:618733
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Lynch Syndrome	Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Salivary gland neopl...	ORPHA:144
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dysphagia	ORPHA:537
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Developmental And Epileptic Encephalopathy 2	Small hand, Thick lower lip vermilion, Short foot, Motor stereotypy, Tapered finger	OMIM:300672
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Abnormal thumb morphology, Tibi...	ORPHA:500095
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Hashimoto thyroiditis, Weight loss, Anorexia, Hydrocele ...	ORPHA:49041
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Failure to thrive, Breast hypoplasia, Cryptorchidism, Multiple joint contractures...	ORPHA:464306
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Tibial torsion, Overlapping toe, Obesity, Cryptorchidism, 2-3 toe syndactyl...	OMIM:618653
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Barth Syndrome	Talipes equinovarus, Mandibular prognathia	OMIM:302060
Constricting Bands, Congenital	Cleft upper lip, Talipes equinovarus, Hand polydactyly, Cleft palate, Syndactyly	OMIM:217100
Seckel Syndrome 9	Talipes equinovarus, Micrognathia	OMIM:616777
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Elevated circulating creatine kinase concentration, Brachydactyly, Short phalanx of f...	OMIM:600092
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Increased circulating IgE level, Persistence of primary teeth, Joint hypermobility, C...	OMIM:147060
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,...	ORPHA:79102
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Smooth philtrum, Talipes equinovarus, Deep philtrum, Pes planus, Wide mouth	OMIM:617260
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Small for gestational age, Short toe, Failure to thrive, Cryptorchidis...	ORPHA:464311
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Stevens-Johnson Syndrome	Weight loss, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Dysphagia	ORPHA:36426
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Retrognathia, Micrognathia, Protrusio acetabuli, Mala...	OMIM:610168
X-Linked Intellectual Disability, Nascimento Type	Clubbing of toes, Downturned corners of mouth, Overlapping toe, Pes cavus, Aggressive behavior, D...	ORPHA:163956
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, Retrognathia, Thrombocytopenia	ORPHA:457351
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absent or minimally oss...	ORPHA:93271
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Large joint hypermobilty, Cleft soft palate, Talipes equinovarus, Pes planus, Small j...	OMIM:614557
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis, Oral ulcer, Sinusitis	OMIM:608710
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Failure to thrive in infancy, Abnormal hi...	ORPHA:51608
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Microretrognathia, Tracheomalacia, Tented upper lip vermilion, Smooth philtrum, Ta...	OMIM:620371
Late Infantile Neuronal Ceroid Lipofuscinosis	Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity	ORPHA:168491
Phosphoribosylaminoimidazole Carboxylase Deficiency	Talipes equinovarus, Clinodactyly of the 5th finger	OMIM:619859
Congenital Analbuminemia	Obesity, Small for gestational age, Increased circulating antibody level	ORPHA:86816
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Motor stereotypy, Prolonged neonatal jaundice...	OMIM:607625
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Long philtrum, Failure to thrive in inf...	ORPHA:1308
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia	ORPHA:702
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Orchitis...	ORPHA:48435
Chromosome 14Q11-Q22 Deletion Syndrome	Failure to thrive, Long philtrum, Micrognathia, Narrow mouth, High palate, Macroglossia, Hip subl...	OMIM:613457
Sarcoidosis	Abnormal lymph node morphology, Parotitis, Leukopenia, Portal hypertension, Enlargement of paroti...	ORPHA:797
Degcags Syndrome	Toe syndactyly, Oral-pharyngeal dysphagia, Micrognathia, Genu valgum, Protruding tongue, Talipes ...	OMIM:619488
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty...	OMIM:263520
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Micromelia, Postaxial hand polydactyly	OMIM:200995
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Narrow mouth, Joint hypermobility, Generalized joint hypermobil...	OMIM:601776
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Nijmegen Breakage Syndrome	Acute leukemia, Retrognathia, Autoimmune hemolytic anemia, Cachexia, Deep philtrum, Attention def...	ORPHA:647
Cap Polyposis	Weight loss	ORPHA:160148
Iniencephaly	Rhizomelia, Narrow mouth, Talipes equinovarus, Orofacial cleft, Mandibular aplasia, Rocker bottom...	ORPHA:63259
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization, Hypokalemia, Reduced bone mineral density, Bicarbon...	ORPHA:47159
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Intrauterine growth retardation, Neutropenia, Anemia, Short stature	OMIM:618460
Liposarcoma	Weight loss	ORPHA:69078
Congenital Myopathy 13	Downturned corners of mouth, Micrognathia, High palate, Bilateral talipes equinovarus, Flexion co...	OMIM:255995
Polyarteritis Nodosa	Weight loss	ORPHA:767
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n...	ORPHA:29072
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation ...	OMIM:256520
Parkinsonian-Pyramidal Syndrome	Talipes equinovarus, Dysphagia	ORPHA:171695
Transketolase Deficiency	Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Hepa...	ORPHA:488618
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Cachexia, Dysphagia, Upper-limb joint contracture	ORPHA:300605
Renal-Hepatic-Pancreatic Dysplasia 2	Talipes equinovarus, Femoral bowing	OMIM:615415
Granulomatosis With Polyangiitis	Prostatitis, Abnormal oral cavity morphology, Pancreatitis, Weight loss, Granulomatosis, Sinusiti...	ORPHA:900
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop...	OMIM:619472
Carney-Stratakis Syndrome	Weight loss, Dysphagia, Paraganglioma	ORPHA:97286
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synos...	ORPHA:3404
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Velopharyngeal insufficiency, Failure to thrive, Microg...	OMIM:619325
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal oral mucosa morphology, Failure to thrive, Erosion of ora...	ORPHA:79404
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss, Clubbing	ORPHA:747
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Trichothiodystrophy 1, Photosensitive	Short stature, Decreased circulating IgG level, Small for gestational age	OMIM:601675
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Overlapping toe, Reduced bone mineral density, Cryptorchidism, Motor stereoty...	OMIM:616682
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Hypoplasia of the zygomatic bone, Cutaneous finger syndactyly, Aplastic zygomatic...	OMIM:200110
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Loeys-Dietz Syndrome 1	Bifid uvula, Retrognathia, Micrognathia, Malar flattening, Joint hypermobility, Arachnodactyly, T...	OMIM:609192
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Femoral bowing, Tibial bowing, Wide anterior fontanel, Mesomelia	OMIM:616482
Proteus Syndrome	Carious teeth, Finger syndactyly, Open mouth, Cachexia, Abnormal metacarpal morphology, Calvarial...	ORPHA:744
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Brachydactyly, Short palm	ORPHA:3217
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm	ORPHA:276399
Phace Association	Congenital hypothyroidism, Lingual thyroid	OMIM:606519
8P11.2 Deletion Syndrome	Talipes equinovarus, High palate, Micrognathia	ORPHA:251066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermili...	OMIM:614756
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Acromelic Frontonasal Dysostosis	Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd...	OMIM:603671
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Abnormal foot morphology, Generalized joi...	ORPHA:287
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Scleromyxedema	Paraproteinemia	ORPHA:167635
Fanconi Anemia, Complementation Group L	Absent thumb, Micrognathia, Attention deficit hyperactivity disorder, Absent radius, Bilateral ta...	OMIM:614083
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Oral ulcer, Orchitis, Weight loss, Pancreatitis, Art...	ORPHA:117
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Bifid uvula, Dental malocclusion, Retrognathia, Protrusio acetabu...	OMIM:613795
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Supernumerary nipple, Widely spaced teeth, Cryptorc...	OMIM:235730
Pyomyositis	Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short ribs, Postaxial p...	OMIM:616546
Nocardiosis	Brain abscess, Cutaneous abscess, Osteomyelitis, Peritonitis, Weight loss, Abnormality of the adr...	ORPHA:31204
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Pulmonary Alveolar Microlithiasis	Stippled calcification in carpal bones, Weight loss, Hepatomegaly, Testicular microlithiasis, Clu...	ORPHA:60025
Abetalipoproteinemia	Distal lower limb muscle weakness, Osteopenia, Talipes equinovarus, Pes cavus	ORPHA:14
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Clinodact...	OMIM:309800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Abnormality of the spleen, Hepatosple...	ORPHA:2072
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Tibial torsion, Talipes equinovarus, Long toe, Pes planus, Aggressive behavior, L...	OMIM:613355
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Talipes equinovarus, Joint contracture, Camptodactyly, Hip dislocation	OMIM:617403
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Broad foot, Talipes equinovarus, 2-3 finger syndac...	OMIM:312870
Hereditary Late-Onset Parkinson Disease	Impulsivity, Weight loss, Dysphagia, Agitation	ORPHA:411602
Phace Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:42775
Hypotonia, Ataxia, And Delayed Development Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Thick upper lip vermilion, Cryptorchidism...	OMIM:617330
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Knee flexion contracture	OMIM:620454
Cloacal Exstrophy	Abnormal tibia morphology, Talipes equinovarus, Abnormal fibula morphology, Absent foot, Hip disl...	ORPHA:93929
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Carious teeth, Short thumb, Downturned corners of mouth, Short finger, Cryptorc...	OMIM:619522
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Dental crowding, Retrognathia, Long philtrum, Finger sy...	ORPHA:110
Costello Syndrome	Tracheomalacia, Deep plantar creases, Thick lower lip vermilion, Micrognathia, Limited elbow move...	OMIM:218040
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss, Dysphagia	OMIM:603041
Autosomal Dominant Cutis Laxa	Genu recurvatum, Osteopenia, Talipes calcaneovalgus, Joint hypermobility, Talipes equinovarus, Pe...	ORPHA:90348
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system	ORPHA:538
Juvenile Dermatomyositis	Weight loss, Limitation of joint mobility, Dysphagia, Arthritis	ORPHA:93672
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Joubert Syndrome 6	Hepatic fibrosis, Motor stereotypy, Bile duct proliferation	OMIM:610688
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th...	OMIM:620025
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Multiple joint contractures, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy	ORPHA:447997
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Blau Syndrome	Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gland morphology	ORPHA:90340
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Dysphagia, Failure to thrive	ORPHA:1018
Neurooculorenal Syndrome	Short 1st metacarpal, Micrognathia, Talipes equinovarus, Short hallux, Broad philtrum	OMIM:620305
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Periodontitis, Metacarpophalangeal ...	OMIM:130050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Cockayne Syndrome Type 3	Carious teeth, Splenomegaly, Enamel hypoplasia, Hepatomegaly, Flexion contracture	ORPHA:90324
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:509
Trichinellosis	Increased circulating IgE level	ORPHA:863
Oculopharyngodistal Myopathy 1	High palate, Weight loss, Dysphagia	OMIM:164310
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Dysphagia	OMIM:607459
Pheochromocytoma	Hypercalcemia	OMIM:171300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Limb Body Wall Complex	Cleft lip, Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndacty...	ORPHA:2369
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Median cleft upper lip, Talipes ...	OMIM:236680
Renal Agenesis	Talipes equinovarus	ORPHA:411709
Norrie Disease	Self-injurious behavior, Failure to thrive, Malar flattening, Cryptorchidism, Motor stereotypy, C...	ORPHA:649
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Fraser Syndrome	Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Cleft upper lip, Wide pu...	ORPHA:2052
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the dentition, Congenital hip dislocation, Carious teeth, Per...	ORPHA:286
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Oral-pharyngeal dysphagia, Shoulder girdle muscle weakness, Ten...	ORPHA:273
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adams-Oliver Syndrome 1	Toe syndactyly, Cleft upper lip, Talipes equinovarus, Brachydactyly, Cleft palate	OMIM:100300
Chronic Graft Versus Host Disease	Xerostomia, Pancytopenia, Weight loss, Arthritis, Anorexia, Flexion contracture, Dysphagia	ORPHA:99921
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Increased circulating cortisol level	ORPHA:276152
Congenital Disorder Of Glycosylation, Type Iim	Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High...	OMIM:300896
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Long philtrum, Cleft upper lip, Widely spaced ...	ORPHA:709
African Trypanosomiasis	Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Aggressive behavior,...	ORPHA:3385
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Dermatomyositis	Abnormal eosinophil morphology, Weight loss, Dysphagia, Arthritis	ORPHA:221
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Failure to thrive in infancy, Intrauterine growth retardation, S...	ORPHA:500150
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Heterotaxy, Visceral, 1, X-Linked	Bilateral talipes equinovarus, Congenital hip dislocation, Block vertebrae	OMIM:306955
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Oeis Complex	Talipes equinovarus, Congenital hip dislocation	OMIM:258040
Nmda Receptor Encephalitis	Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Motor stereotypy, Agitation, Hyper...	ORPHA:217253
Sacral Defect With Anterior Meningocele	Bilateral talipes equinovarus	OMIM:600145
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly	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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