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Gene: Col10a1 MGI:88445

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

collagen, type X, alpha 1

Synonyms:

Col10a-1, Col10

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 Col10a1 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 Col10a1 (2 diseases)
Human diseases predicted to be associated with Col10a1 (2166 diseases)

The table below shows human diseases associated to Col10a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Metaphyseal Chondrodysplasia, Schmid Type		Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Metaphyseal Chondrodysplasia, Schmid Type		Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck...	OMIM:156500

The table below shows human diseases predicted to be associated to Col10a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Upington Disease	Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head	OMIM:191520
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Short toe, Short finger, Abnormal long bone morphology, G...	OMIM:259270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia	OMIM:200900
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
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
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Scoliosis, Abnormal epiphysis morphology, Carious teeth, Reduced bo...	ORPHA:2501
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Type I ...	ORPHA:1133
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ...	OMIM:617241
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva...	OMIM:618363
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,...	OMIM:184255
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Failure to thrive, Ankyloglossia, Decreased skull ossificat...	OMIM:602361
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Mirage Syndrome	Scoliosis, Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Decreased testicular s...	OMIM:617053
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia, Osteopor...	ORPHA:100024
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Oral ulcer, Lymphadenopathy, H...	OMIM:608971
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e...	OMIM:226900
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Abnorma...	ORPHA:85435
Camurati-Engelmann Disease	Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dyspl...	ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly	OMIM:616622
Spondylometaphyseal Dysplasia, Type A4	Severe short stature, Disproportionate short-limb short stature, Irregular patellae, Hypoplasia o...	OMIM:609052
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly, Failure to thrive	ORPHA:796
Mcdonough Syndrome	Mandibular prognathia, Dental malocclusion, Open bite, Micrognathia, Cryptorchidism, Abnormal pal...	ORPHA:2471
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis, Ab...	ORPHA:296
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Acromesomelic Dysplasia, Maroteaux Type	Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Beaking of ve...	ORPHA:40
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Pycnodysostosis	Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup...	ORPHA:763
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth...	ORPHA:93352
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Gingival overgrowth, Splenomegaly, Hydrocephalus, Hepatomegaly, Va...	OMIM:269920
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal form of the vertebra...	ORPHA:93941
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Hypoplastic spleen, Adducted thumb	ORPHA:89844
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Pancytopeni...	ORPHA:2169
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutrope...	ORPHA:79312
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Metaphyseal irregularity, Fibular overgrowth, Fla...	OMIM:602557
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Femoral bowing, Tibia...	OMIM:166740
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption o...	OMIM:265900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Immunodeficiency 9	Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogen...	OMIM:612782
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Failure to thrive in infancy, Abnormally low T cell receptor excision c...	OMIM:618987
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, H...	ORPHA:577
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ...	ORPHA:86843
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Severe short stature, Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Wide dis...	ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre...	OMIM:301078
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-...	ORPHA:75233
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Short neck, Short greater sciatic notch, Flat aceta...	OMIM:256050
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Sandwich appearance of vertebral bodies, Pan...	OMIM:259700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Lethargy, Decreased mean corpusc...	OMIM:611590
Epiphyseal Dysplasia, Multiple, 1	Severe short stature, Epiphyseal dysplasia, Delayed epiphyseal ossification, Disproportionate sho...	OMIM:132400
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo...	ORPHA:83469
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck...	OMIM:156500
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me...	OMIM:613330
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Short neck, Flattened e...	OMIM:251450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver...	OMIM:609223
Cronkhite-Canada Syndrome	Furrowed tongue, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Tapered finger	ORPHA:2930
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec...	OMIM:253000
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Masa Syndrome	Ventriculomegaly, Hyperlordosis, Hydrocephalus, Adducted thumb, Kyphosis	OMIM:303350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micro...	ORPHA:2522
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, Sinusitis, B lymphocytopen...	ORPHA:277
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Hyperlordosis, Osteoporosis, Scoliosis	ORPHA:408
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Alpha-Mannosidosis	Craniofacial hyperostosis, Mandibular prognathia, Dental malocclusion, Widely spaced teeth, Open ...	ORPHA:61
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cra...	OMIM:259710
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum...	ORPHA:93333
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Ovoid vertebral bodies, Hy...	OMIM:617396
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal metaphysis morp...	ORPHA:2370
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Decreased circulating IgG level, Increased circulating IgE level, Decreased circulati...	ORPHA:98813
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Ventriculomegaly, Hypoplastic acetabulae, Splenomegaly, Flared iliac wing, Hepatom...	OMIM:230650
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Malar flattening, Kyphoscoliosis, Amelogenesis imperfect...	OMIM:614727
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Splenomegaly, Kyphoscoli...	OMIM:616354
Hip Dysplasia, Beukes Type	Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Flynn-Aird Syndrome	Carious teeth, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyro...	ORPHA:2047
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
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
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, High palate, Thyroid hypopl...	ORPHA:861
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ...	ORPHA:56304
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Slender long bone, Clinodactyly, Hepatitis, Failure to thrive in infanc...	OMIM:613385
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Obesity, Lymphadenopathy	ORPHA:99976
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Weight loss, Lymp...	OMIM:209950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Lethargy, Failure to thrive	ORPHA:28
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Scoliosis, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Lumbar hyperlord...	OMIM:607944
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Overlapping fingers, Femoral bowing, Micrognathia, Thoracic scolios...	OMIM:617022
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Dysplasia of the femora...	ORPHA:93284
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:858
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscoliosis...	ORPHA:1159
Hemochromatosis, Type 2A	Splenomegaly, Hypogonadotropic hypogonadism, Lethargy, Cirrhosis, Hepatomegaly	OMIM:602390
Familial Anetoderma	Abnormal tibia morphology, Lumbar hyperlordosis, Irregular dentition, High, narrow palate	ORPHA:228277
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy, Abnormal erythrocyte morphology, Hypoglycorrhachia	ORPHA:71277
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Gm1 Gangliosidosis	Platyspondyly, Mandibular prognathia, Coarse metaphyseal trabecularization, Abnormal epiphysis mo...	ORPHA:354
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Femoral bowing, Bowing of the lo...	ORPHA:1860
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Hepatomeg...	OMIM:253010
Roifman Syndrome	Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Downturned corners of mouth, Long phi...	ORPHA:353298
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Lethargy, Failure to thrive	OMIM:613561
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen	OMIM:185070
Diencephalic Syndrome	Decreased body weight, Cachexia, Hydrocephalus, Everted lower lip vermilion, Abnormality of the h...	ORPHA:1672
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Failure to thrive, Everted upper lip vermilion, Pancytopenia, Spl...	OMIM:619824
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo...	ORPHA:94068
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology...	ORPHA:1387
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph...	OMIM:615761
Ck Syndrome	Microretrognathia, Dental crowding, Slender build, Lumbar hyperlordosis, Malar flattening, Kyphos...	ORPHA:251383
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa...	OMIM:271530
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Lumbar hyperlordosis, Obesity, Scoliosis, Kyphosis	OMIM:616756
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Fail...	ORPHA:289157
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Micrognathia, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Camptoda...	OMIM:214110
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Chronic sinusitis, Lymphadenopathy, B lym...	ORPHA:397596
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Elevated circulating thyroid-stimulating ho...	OMIM:242900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Short neck, Neutropenia, Ovoid vertebral bodies, Abnormal...	ORPHA:1830
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Spleno...	OMIM:612541
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture...	ORPHA:93315
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Lethargy, Failure to thrive	ORPHA:26
Alexander Disease Type I	Hydrocephalus, Cachexia, Scoliosis, Failure to thrive	ORPHA:363717
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red...	ORPHA:1508
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H...	OMIM:610333
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Hyperlordosis, Spinal rigidity	ORPHA:157973
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodi...	OMIM:600462
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Depression, Hyperlordosis	ORPHA:352470
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Developmental And Epileptic Encephalopathy 36	Small hand, Microretrognathia, Hydrocephalus, Hepatomegaly, Scoliosis	OMIM:300884
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva	ORPHA:517
Absence Deformity Of Leg-Cataract Syndrome	Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, ...	ORPHA:2310
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Downturned corners of mouth, Long philtrum, Irregular femor...	OMIM:616651
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ...	OMIM:184250
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Narrow pelvis bone, Lumbar hyperlordosis, Scoliosis, Hip contracture	OMIM:602484
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Median cleft palate, Aplasia/hypoplasia involving bon...	ORPHA:40366
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv...	OMIM:226980
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognathia...	OMIM:201000
Kyphomelic Dysplasia	Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humerus, Femoral bowing, Micrognath...	OMIM:211350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis, Hip contracture	OMIM:600175
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Congenital hypothyroidism, Increased body ...	OMIM:614450
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, S...	ORPHA:968
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Adrenal cortical sclerosis, Abnormal pelvic girdle bone morphology, Growth arrest ...	OMIM:102700
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Abnormal thumb morphology, Ma...	ORPHA:2511
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphadenopathy, Ne...	OMIM:150550
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ...	ORPHA:429
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Downturned corners of mouth, Increased vertebral height, Micrognat...	OMIM:616817
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Depression, Obesity, Bipolar affective disorder, Anodontia, Oligodontia, Everted lower lip vermil...	ORPHA:276630
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Ovoid ...	ORPHA:63446
Whipple Disease	Depression, Splenomegaly, Hepatomegaly, Cachexia, Hypothyroidism, Hydrocephalus, Anemia, Mediasti...	ORPHA:3452
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Type I diabetes mellitus, Hyperlordosis, Cryptorchidism	ORPHA:1192
Renpenning Syndrome	High, narrow palate, Decreased testicular size, Macrodontia, Narrow mouth, Abnormal thumb morphol...	ORPHA:3242
Metatropic Dysplasia	Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Abnormal form of...	ORPHA:2635
Congenital Myopathy 16	Lumbar hyperlordosis, Micrognathia, Narrow mouth, High palate, Scoliosis, Spinal rigidity	OMIM:618524
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Thick vermilion border, Enamel hypoplasia, Hyperlordosis, Thrombocytope...	OMIM:619980
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormality of the dentition, Carious teeth, Abnormal epiphysis m...	ORPHA:53
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy...	OMIM:609616
Leishmaniasis	Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp...	ORPHA:507
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lumbar vertebra...	OMIM:264180
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ...	OMIM:607594
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Ena...	OMIM:234250
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing of the long bones, Short neck, H...	OMIM:255800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Three M Syndrome 1	Short 5th finger, Small for gestational age, Slender long bone, Long philtrum, Thick lower lip ve...	OMIM:273750
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro...	OMIM:616897
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Pfapa Syndrome	Splenomegaly, Abnormal oral cavity morphology, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Mitochondrial Neurogastrointestinal Encephalomyopathy	Increased CSF protein concentration, Hypogonadotropic hypogonadism, Cachexia, Cirrhosis, Weight l...	ORPHA:298
Rigid Spine Syndrome	Scoliosis, Hyperlordosis, Hip contracture, Spinal rigidity	ORPHA:97244
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Megaloblastic anemia, Failure to thrive	OMIM:236270
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno...	ORPHA:100083
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Nemaline Myopathy 5C, Autosomal Dominant	Slender build, High palate, Scoliosis, Hyperlordosis	OMIM:620389
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Hip dysplasia, Scoliosis, Kyphosis	OMIM:615290
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Failure to thrive, Lethargy, Megaloblastic anemia, Neutropenia, Jaundice	OMIM:250940
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Crypt...	ORPHA:3085
48,Xxyy Syndrome	Broad jaw, Ventriculomegaly, Depression, Carious teeth, Delayed eruption of teeth, Thick lower li...	ORPHA:10
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:457077
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Portal hypertension, Splenomegaly, Abnormal metacarpo...	ORPHA:465508
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Open bite, Decreased testicular ...	ORPHA:85293
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia	OMIM:243500
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis, Hip dysplasia	ORPHA:363454
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt...	ORPHA:2325
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Radial bowing, Flared metaphysis, Femoral bowing, ...	OMIM:100800
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Spinal...	ORPHA:582
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Delayed puberty, Anemia, High palate, Scoliosis, Kyphosis	ORPHA:2598
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th...	OMIM:243150
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadeno...	OMIM:618495
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration	ORPHA:90081
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Ventriculomegaly, Cholestasis, Obesity, Genu valgum, Splenomegaly, Orofacial cl...	OMIM:615630
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Arachnodactyly, Long toe, L...	OMIM:619489
Congenital Myopathy 2A, Typical, Autosomal Dominant	Retrognathia, Slender build, Hyperlordosis, High palate, Scoliosis, Spinal rigidity	OMIM:161800
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met...	ORPHA:2774
Pontocerebellar Hypoplasia, Type 15	Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Propionic Acidemia	Failure to thrive, Pancytopenia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutrope...	OMIM:606054
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity	OMIM:255600
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Failure to thrive, Lymphadenopathy	OMIM:607271
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, B lymphocytopenia, Brach...	OMIM:618048
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Smith-Mccort Dysplasia 2	Platyspondyly, Mandibular prognathia, Hypoplasia of the odontoid process, Broad femoral neck, Gen...	OMIM:615222
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis, Hip contracture	OMIM:619042
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Osteolysis	ORPHA:391
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Short neck, Enamel hypoplasia, Brac...	OMIM:612463
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Generalized osteoporos...	OMIM:277950
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Lumbar hyperlordosis, 2-3 toe syndactyly, Thoracolumbar scoliosis, High palate	OMIM:610313
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Trident hand, Malar flattening, Brachydactyly, Short lon...	OMIM:146000
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Neonatal short-trunk sho...	ORPHA:1190
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Lethargy, Brachydactyly, Small for gestational age	OMIM:610498
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Reduced bone mineral density, Decreased body weight, Brachydactyly, Sh...	OMIM:618392
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal vertebral morphology, Ventriculomegaly, Hydrocephalus	OMIM:618709
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly	OMIM:618852
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased bone mineral density	ORPHA:37748
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand...	ORPHA:210110
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Micrognathia, Tented upper lip vermilion, Hip contracture, Arachnodactyly, Severe fai...	ORPHA:371364
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Scoliosis, Kyphosis	OMIM:168400
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ...	OMIM:253200
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Failure to thrive, Upper lim...	OMIM:169400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Bifid uvula, Osteopenia, Broad femoral neck, Dental malocclusion, Flared metaphysi...	OMIM:612350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Polycythemia Vera	Gingival bleeding, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension,...	ORPHA:729
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Spastic Paraplegia 18B, Autosomal Recessive	High palate, Scoliosis, Kyphosis	OMIM:611225
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Hepatic steatosis, Failure to thrive	ORPHA:26792
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	OMIM:603552
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Chronic sinusitis, Hypoplastic s...	OMIM:620642
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Shoulder flexion contracture, Failure to thrive, Micrognathia, Kyphoscoliosi...	ORPHA:536516
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Fibular bowing, Micrognathia, Short neck, Ab...	ORPHA:1427
Three M Syndrome 3	Slender long bone, Long philtrum, Increased vertebral height, Thick vermilion border, Decreased b...	OMIM:614205
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Micrognathia, Cryptorchidism, Lethargy, Thrombocytopenia, Neutropenia, Normoch...	OMIM:614857
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Cartilage-Hair Hypoplasia	Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, ...	OMIM:250250
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Silver-Russell Syndrome Due To 11P15 Microduplication	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute...	ORPHA:231144
Schwartz-Jampel Syndrome	Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Decreased body weight, Bow...	ORPHA:800
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Carious teeth, Failure to thrive, Delayed eruption of teeth, Long philtrum, Mic...	OMIM:214150
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno...	OMIM:609981
Fucosidosis	Macroglossia, Anterior beaking of thoracic vertebrae, Failure to thrive, Absent/hypoplastic paran...	OMIM:230000
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, Failure to thrive, Retrognathia, 2-3 toe syndactyly, Hyperlordosis, Scoliosis	OMIM:617352
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Micrognathia, Orbital craniosynostosis, Dandy-Walker malformation	ORPHA:1538
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Osteosclerosis of the ulna,...	OMIM:602080
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Lumbar hyperlordosis, Brachydactyly, Genu varum, Cranio...	OMIM:619451
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Thick lower lip vermilion, Genu valgum, Splenomegaly, Sh...	ORPHA:583
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Hypogonadism, Decreased testicular size, Thoracic kyphosis, Lumba...	ORPHA:3041
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Castleman Disease	Myelofibrosis, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy,...	ORPHA:160
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth...	OMIM:612921
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Increased CSF lactate, Cachexia, Weight loss, Failure to thrive	OMIM:612075
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Micrognathia, Narrow mouth, Hypodontia, Asplenia, High palate	OMIM:612776
Wilson Disease	Depression, Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Incre...	ORPHA:905
Nasu-Hakola Disease	Ventriculomegaly, Acute leukemia, Abnormal epiphysis morphology, Bone cyst, Hydrocephalus, Reduce...	ORPHA:2770
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Long philtrum, Macrodontia, Obesity, Genu valgum, M...	OMIM:618443
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Congenital bilateral hip dislocation, Small for gestational age, Kyphosis	ORPHA:85288
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Macroglossia, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology	ORPHA:353
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Christianson Syndrome	Ventriculomegaly, Cachexia, Mandibular prognathia, Adducted thumb	ORPHA:85278
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo...	OMIM:241530
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Hydroce...	OMIM:617244
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Ventriculomegaly, Delayed eruption of teeth, Thick lower lip vermilio...	OMIM:619797
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Micrognathia, Short neck, Cachexia, Thin vermilion border, Tapered finger	ORPHA:1438
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cry...	ORPHA:398079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Ventriculomegaly, Open mouth, Cryptorchidism, Hyperlordosis, Macroglossia, Scoliosis, Hip disloca...	OMIM:613156
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Obesity, ...	ORPHA:65759
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect, Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia	ORPHA:3004
1Q21.1 Microduplication Syndrome	Failure to thrive, Cryptorchidism, Hydrocephalus, Hip dysplasia, Hip dislocation	ORPHA:250994
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Kyphosis, Cervical spinal canal stenosis, Lumbar...	ORPHA:15
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Dental crowding, Sandal gap, Abnormality of the calcane...	ORPHA:813
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno...	ORPHA:1837
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Osteolysis, Wide mouth...	ORPHA:137834
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Classic Galactosemia	Depression, Cryptorchidism, Lethargy, Abnormal erythrocyte enzyme concentration or activity, Decr...	ORPHA:79239
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Obesity, Osteoarthritis	ORPHA:2206
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Micromelia, Metaphyseal spurs, Irregular epiphyses, Sm...	OMIM:608728
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Abnormal epiphysis morphology, Craniofacial osteosclerosis, Hypero...	ORPHA:324964
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope...	ORPHA:2909
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met...	OMIM:190350
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Widely spaced toes, Cervical spinal...	OMIM:301900
Idiopathic Congenital Hypothyroidism	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De...	ORPHA:95717
Fetal Akinesia Deformation Sequence 4	Retrognathia, Micrognathia, Cryptorchidism, Neonatal death, Short neck, Camptodactyly, High palat...	OMIM:618393
Temple Syndrome	Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Maturity-onset diabetes of the young, ...	OMIM:616222
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Hyperlordosis, ...	OMIM:613327
Sialidosis Type 2	Hepatomegaly, Osteoporosis, Kyphosis, Splenomegaly	ORPHA:87876
Typhoid	Hepatomegaly, Lethargy, Splenomegaly	ORPHA:99745
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice, Failure to thrive, U-Shaped upper lip vermilion	OMIM:129850
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Usmani-Riazuddin Syndrome, Autosomal Dominant	Depression, Long philtrum, Short finger, Lumbar hyperlordosis, 2-3 toe syndactyly, Clinodactyly o...	OMIM:619467
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis	OMIM:611067
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Hypoplasia of the nasal ...	ORPHA:93357
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	ORPHA:49827
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age	OMIM:617065
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Cachexia	ORPHA:1144
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Acrodysostosis	Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ...	ORPHA:950
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala...	ORPHA:221139
Hurler Syndrome	Hypoplasia of the odontoid process, Hepatosplenomegaly, Short neck, Diaphyseal undertubulation, C...	OMIM:607014
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Temple Syndrome	Precocious puberty, Bifid uvula, Small hand, Decreased response to growth hormone stimulation tes...	ORPHA:254516
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo...	OMIM:101800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615937
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Lymphadenopathy...	OMIM:240500
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe...	OMIM:156550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Splenomegaly, Autoimmune hemol...	ORPHA:37042
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated...	ORPHA:95716
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Clinodactyly, Retrognathia, Hypoplasia of the cap...	ORPHA:557003
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm...	ORPHA:93316
Rhizomelic Dysplasia, Patterson-Lowry Type	Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed humeral heads, ...	ORPHA:2831
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Thin upper lip vermil...	OMIM:620233
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Wide mouth, Patellar aplasi...	ORPHA:2058
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ...	ORPHA:2780
Multiple Epiphyseal Dysplasia Type 5	Arthralgia of the hip, Abnormality of the epiphyses of the feet, Abnormal upper limb epiphysis mo...	ORPHA:93311
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Delayed eruption of...	ORPHA:2616
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Decreased proportion of CD8-pos...	ORPHA:911
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Micrognathia, Hepatomegaly, Still...	OMIM:259720
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF isoleucine concentration, Increased CSF valine concentration, Increased CSF leucine...	OMIM:246900
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Neutropenia, Leukemia, Genu var...	ORPHA:221008
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
King-Denborough Syndrome	Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis...	OMIM:619542
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Osteogenesis Imperfecta, Type V	Osteopenia, Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Joint hyper...	OMIM:610967
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy, Hypoglycorrhachia	OMIM:606777
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Short toe, Delayed eruption of teeth, Short finge...	OMIM:103580
Osteoglosphonic Dysplasia	Abnormal form of the vertebral bodies, Tooth agenesis, Failure to thrive in infancy, Micrognathia...	ORPHA:2645
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis	ORPHA:280333
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:264700
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Failure to thrive	OMIM:274270
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e...	OMIM:277440
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Nemaline Myopathy 2	Long philtrum, Slender build, Narrow mouth, Hyperlordosis, High palate, Scoliosis, Cleft palate, ...	OMIM:256030
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo...	OMIM:613101
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch...	ORPHA:811
Omenn Syndrome	Short toe, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom...	ORPHA:39041
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Wei...	ORPHA:141152
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp...	OMIM:601457
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Sandal gap, Everted upper lip vermilion, Camptodactyly of finger, Supernumerary nipple,...	OMIM:619951
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Micrognathia, Gingival overgrowth, Neonatal death, 2-3 toe syndactyl...	OMIM:618186
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Hypothyroidism, Congenital, Nongoitrous, 7	Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ...	OMIM:618573
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy,...	OMIM:615387
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Lateral ventricle dilatation, Splenomegaly, Femur fracture, ...	OMIM:612301
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteo...	ORPHA:71267
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Failure to thrive, Gra...	ORPHA:199299
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Short humerus, Short ribs, Talipes equino...	OMIM:607143
Atypical Teratoid Rhabdoid Tumor	Apathy, Hydrocephalus	ORPHA:99966
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Lethargy, Increased CSF lactate, Failure to thrive	OMIM:615838
Scrub Typhus	Splenomegaly, Lethargy, Lymphadenopathy	ORPHA:83317
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu...	OMIM:223800
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Abdominal situs inversus, Clinodactyly of the 5th finger, Micrognathia, Cryptorchidism...	OMIM:619123
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Failure to thrive, Retrognathia, Cholestasis, Pancytopenia, Splenomegaly, Posta...	OMIM:614576
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Con...	OMIM:618223
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia, Glossitis, Clubbing, Clubbing of fingers	OMIM:175500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Sinusiti...	ORPHA:47612
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr...	OMIM:201100
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormality of the...	ORPHA:400
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab...	OMIM:615777
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Ventriculomegaly, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primar...	OMIM:618342
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Gray Platelet Syndrome	Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Recurrent aphthous stomatitis, Leukocytosis, Lymphadenopathy	OMIM:611762
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:251000
B4Galt1-Cdg	Long philtrum, Splenomegaly, Thin upper lip vermilion, Hypothyroidism, Hydrocephalus, Hepatomegal...	ORPHA:79332
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Short neck, Hypoparath...	ORPHA:567
Evans Syndrome	Autoimmune hemolytic anemia, Lethargy, Neutropenia in presence of anti-neutropil antibodies, Jaun...	ORPHA:1959
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee...	ORPHA:699
Chronic Beryllium Disease	Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, An...	OMIM:612714
Spinocerebellar Ataxia 48	Cachexia, Depression	OMIM:618093
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Genu valgum, S...	ORPHA:1803
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Micrognathia, Fibular bowing, Genu valgum, Tibial bowing, Dec...	OMIM:613848
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ...	OMIM:619752
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Microretrognathia, Clinodactyly of the 2nd finger, Long philtrum, Monkey wrench...	OMIM:618870
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Hepatosplenomegaly, Sp...	OMIM:309900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Lethargy	OMIM:613710
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Micrognathi...	ORPHA:808
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Overlapping toe, Cutaneous fing...	OMIM:114300
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Lymphadenopathy,...	ORPHA:381
Anauxetic Dysplasia 1	Platyspondyly, Hypoplastic ilia, Atlantoaxial dislocation, Macroglossia, Short toe, Flared metaph...	OMIM:607095
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Delayed eruption of teeth, Hyperextensibilit...	OMIM:613849
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos...	OMIM:271650
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Paget disease of bone, Back pain, Lumbar hyperlordosis	OMIM:167320
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Clinodactyly, Long philtrum, Micrognathia, Cryptorchidism, Unilambdoid synostos...	OMIM:618577
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Lethargy, Increased CSF lactate, Failure to thrive	OMIM:618226
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Nemaline Myopathy 7	Lumbar hyperlordosis, High palate, Kyphoscoliosis	OMIM:610687
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp...	OMIM:620632
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Ventriculomegaly, Abnormality of the sp...	ORPHA:2072
Hjv Or Hamp-Related Hemochromatosis	Hypogonadism, Congenital hepatic fibrosis, Lethargy, Osteoporosis, Abnormality of endocrine pancr...	ORPHA:79230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Depression, Hyperlordosis	OMIM:615156
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Narrow mouth, Kyphosis, Failure to thrive, Hip dysplasia	OMIM:620007
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, Micrognathia, Cryptorchidism, Neonatal death, Short neck, Hip dysplasia, High palat...	OMIM:611890
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of...	ORPHA:2905
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillary central incisors, Lumbar...	OMIM:619719
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased...	ORPHA:398069
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Micrognathia, Open mouth, Short neck, Abnormal oral cavity morphology, Hydrocephalus, Clinodactyl...	ORPHA:1516
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Mucopolysaccharidosis Type 1	Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Spinal canal stenosis, Thic...	ORPHA:579
Orofaciodigital Syndrome Vi	Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f...	OMIM:277170
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Failure to thriv...	ORPHA:217346
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Microcytic anemia, Hepatosplenomegaly, Short neck, Deep philtrum, Hypothyr...	OMIM:619750
Bone Dysplasia, Lethal Holmgren Type	Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Abnormal femur m...	ORPHA:1842
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Pancytopenia, Thin upper lip vermilion, Hepatomegaly, Lethargy, Glossitis, Meg...	OMIM:277380
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Wieacker-Wolff Syndrome	Broad alveolar ridges, Kyphosis, Retrognathia, Long philtrum, Micrognathia, Smooth philtrum, Shor...	OMIM:314580
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Polydactyly, Smooth philtrum, Hydrocephalus, Leukemia, Syndactyly	OMIM:602501
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Long philtrum, Increased CSF lactate, Lethargy, Small for gestational age	OMIM:312170
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Elevated circulating t...	OMIM:612462
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Lethargy, Failure to thrive in infancy, Wide anterior fontanel	OMIM:619064
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Abnormal long bone morphology, Hepatic steatosis, Hyperlordo...	ORPHA:52430
Pontocerebellar Hypoplasia, Type 6	Increased CSF lactate, Narrow palate, Lethargy, Failure to thrive	OMIM:611523
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyperinsuli...	ORPHA:276608
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Postaxial hand polydactyly	ORPHA:1389
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morpholog...	ORPHA:284
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Cholestasis, Hepatosplenomegaly, Epiphyseal stippling, Micrognathia, Splenomeg...	OMIM:614866
Acrootoocular Syndrome	High, narrow palate, Small for gestational age, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Abnormal form of ...	ORPHA:1327
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed erup...	ORPHA:166272
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys...	OMIM:123000
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Lumbar hyperlordosis, Brachydactyly, Mandibular prognathia	OMIM:165800
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Bifid uvula, Cervical myelopathy, Hypoplasia of the odontoid process, Kyphosis, At...	OMIM:183900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu...	ORPHA:324575
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Cleft lip, Hepatosplenomegaly, Genu valgum, Broad long bone d...	OMIM:301066
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Microsporidiosis	Lymphadenitis, Abnormality of the parathyroid gland, Brain abscess, Hepatitis, Abnormality of the...	ORPHA:2552
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Hyperostosis, Splenomegaly, ...	ORPHA:2969
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Bifid uvula, Aplasia of the distal phalanx of the 5th toe, Kyphos...	OMIM:618658
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Failure to thrive...	OMIM:606367
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Fried Syndrome	Short philtrum, High palate, Scoliosis, Hydrocephalus	ORPHA:85335
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurr...	OMIM:615518
Autosomal Dominant Spondylocostal Dysostosis	Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Abnormal sacrum m...	ORPHA:1797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Ventriculomegaly, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:606612
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Failure to thrive, Clinodactyly, Broad hallux, Intrauterin...	OMIM:620494
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus	ORPHA:1008
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Lethargy, Cachexia, Hepatic steatosis	ORPHA:42
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability	OMIM:600546
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Exaggerated median tongue furrow, Dental crowding, Hyperplasia of the maxilla, Lum...	ORPHA:313892
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Holocarboxylase Synthetase Deficiency	Lethargy, Weight loss, Thrombocytopenia	ORPHA:79242
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Lethargy, Abnormality of the vertebral column, Failure to thrive	OMIM:250620
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Bowing of the...	ORPHA:955
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Abnormal palate morpho...	ORPHA:100026
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr...	OMIM:609054
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Focal ...	ORPHA:276575
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Failure to thrive, Lumbar hyperlordosis, High palate, Scoliosis	OMIM:255310
Digeorge Syndrome	Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Hepatic steatosis, High palate, Hig...	OMIM:188400
Myasthenic Syndrome, Congenital, 16	High palate, Hyperlordosis	OMIM:614198
Brachydactyly, Type B1	Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type B brachydactyly, Thoracolumbar...	OMIM:113000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Stickler Syndrome	Open bite, Slender build, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Lumbar hyperlordosis...	OMIM:602471
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic ane...	OMIM:614700
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Hypoplastic cervical vertebrae, Abnorma...	ORPHA:628
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphad...	OMIM:257200
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Reduced number of intrahepatic bile ducts, Lethargy, Megaloblastic anemia, Neu...	ORPHA:79284
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Micrognathia, Narrow mouth, Cachexia, Weight loss, Reduced bone mineral...	ORPHA:1979
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi...	ORPHA:276580
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Microphthalmia, Syndromic 9	Multilobulated spleen, Micrognathia, Cryptorchidism, Neonatal death, Hypoplastic spleen	OMIM:601186
Aarskog-Scott Syndrome	Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed e...	ORPHA:915
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Dengue Fever	Gingival bleeding, Leukopenia, Lethargy, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thick lower lip vermi...	OMIM:300602
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Ope...	ORPHA:710
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos...	OMIM:617237
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte...	OMIM:224300
Eec Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Tooth agenesis, Decreased respons...	ORPHA:1896
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia	ORPHA:163596
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel ...	ORPHA:2180
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ventriculomegaly, Lethargy, Failure to thrive	OMIM:618228
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Pr...	ORPHA:275761
Hurler Syndrome	Abnormal vertebral morphology, Depression, Abnormal epiphysis morphology, Abnormal diaphysis morp...	ORPHA:93473
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, ...	ORPHA:83471
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Ventriculomegaly, Granuloma, Hep...	ORPHA:1855
Joubert Syndrome 37	Decreased testicular size, Lumbar hyperlordosis, Obesity, Cryptorchidism, Postaxial polydactyly, ...	OMIM:619185
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Malar flatte...	OMIM:613177
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Ventriculomegaly, Hepatitis, Failure to thrive, Decreased FOXP3-express...	OMIM:304790
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis, Cryptorchidism, Tapered finger	OMIM:618512
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Dental crowding, Abnormal form of the vertebral b...	ORPHA:2789
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Cryptorchidism, Broad fingertip, Finger joint hypermobility, Hig...	OMIM:212720
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami	OMIM:141300
Transcobalamin Ii Deficiency	Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Lethargy,...	OMIM:275350
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Hall-Riggs Syndrome	Platyspondyly, Abnormal epiphysis morphology, Failure to thrive, Downturned corners of mouth, Del...	ORPHA:2107
Gaba-Transaminase Deficiency	Lethargy, Retrognathia	OMIM:613163
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Truncal...	ORPHA:2429
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Excessive insulin response to gl...	ORPHA:276556
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain	ORPHA:56425
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis	OMIM:618234
Myopathy, Distal, 1	Lumbar hyperlordosis, Scoliosis, High palate	OMIM:160500
Rett Syndrome	Abnormality of the dentition, Cachexia, Short foot, Scoliosis, Kyphosis	OMIM:312750
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone	ORPHA:1506
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Lethargy, Increased circulating procalcitonin concentration, Neutrophil...	ORPHA:36238
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, High palate, Sho...	ORPHA:251028
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Natal tooth...	OMIM:234100
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Portal fibrosis, Failure to thrive, Swelling of proximal interphalangeal joints, C...	ORPHA:3260
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Splenomegaly, H...	OMIM:272200
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Failure to thrive, Long philtrum, Splenomegaly, Short neck, Hepatomegaly, Wide mouth, H...	OMIM:608776
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas...	ORPHA:331206
Developmental And Epileptic Encephalopathy 41	Lethargy, Delayed eruption of teeth, Kyphoscoliosis	OMIM:617105
Tibial Hemimelia	Absent tibia	OMIM:275220
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Micrognathia, Reduced bone mineral density, Cryptorchidism, Abnormal pa...	ORPHA:2617
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression, Back pain	ORPHA:238624
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared m...	OMIM:269300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Short foot, Scoliosis, Kyphosis	OMIM:300434
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Long philtrum, Overlapping fingers, Recurrent aphthous s...	OMIM:615966
Acute Promyelocytic Leukemia	Gingival bleeding, Leukopenia, Pancytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Lymp...	ORPHA:520
Central Diabetes Insipidus	Depression, Failure to thrive, Lethargy, Weight loss, Diabetes insipidus	ORPHA:178029
Gm1-Gangliosidosis, Type I	Gingival overgrowth, Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral...	OMIM:230500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Malar prominence, Micrognathia, Abnormality of the cervical spine, Hypogonadotr...	ORPHA:48431
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Hepatic steatosis, Hyperlordosis	ORPHA:369840
Ogden Syndrome	High, narrow palate, Ventriculomegaly, Microretrognathia, Everted upper lip vermilion, Broad hall...	ORPHA:276432
X-Linked Agammaglobulinemia	Hepatitis, Failure to thrive, Abnormality of the lymphatic system, Sinusitis, Weight loss, Abnorm...	ORPHA:47
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Bilateral cryptorchidism, Lumbar hyperlordosis, Open mouth, Cryptorc...	OMIM:617796
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Absent gallbladder, Enc...	ORPHA:1335
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Hyperlordosis, Thoracic scoliosis	ORPHA:62
Riboflavin Transporter Deficiency	Hypogonadism, Cachexia, Diabetes insipidus	ORPHA:97229
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Hyperlordosis, Congenital finger flexion contractures	ORPHA:267
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Hallux valgus, Deep philtrum, Everted lower lip vermilion, ...	ORPHA:505652
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Congenital Syphilis	Periostitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Tibial...	ORPHA:499009
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly, Hypothyroidism, B lymphocytopenia	OMIM:619851
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-tru...	ORPHA:239
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Depression, Abnormal epiphysis morp...	ORPHA:90674
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Failure to thrive, Micrognathia, Wide mouth, Arachnodactyly, Short phil...	OMIM:300986
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Lethargy, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Genu varum, Hy...	OMIM:264090
48,Xxxy Syndrome	Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, O...	ORPHA:96263
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Long philtrum, Obesity, Micrognathia, Cryptorchidism, Malar flattening, Bowing of...	ORPHA:171839
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ventriculomegaly, Micronodular cirrhosis, Delayed eruption of teeth, Widely spaced teeth, Gingiva...	OMIM:301072
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Mandibular prognathia, Dental maloc...	ORPHA:1858
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Lethargy, Thrombocytopenia, Acute pancreatitis	ORPHA:319218
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Lethargy, Pancreatitis, Hepatic steatosis	OMIM:619386
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep...	OMIM:617425
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Brachydactyly, Lymphadenopathy, Anemia, Abnormality of ...	ORPHA:1451
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Obesity, Short 4th metacarpal, Short neck, Hydrocephalus, Abnormality of the...	ORPHA:2183
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Angel-Shaped Phalango-Epiphyseal Dysplasia	Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teeth, Short middle phal...	ORPHA:63442
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing	OMIM:615066
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocytopenia, Monocytosis	OMIM:619281
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Short Stature-Wormian Bones-Dextrocardia Syndrome	Broad alveolar ridges, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Microg...	ORPHA:2863
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal...	ORPHA:192
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, Narrow mouth, Cryptorchidism, Pu...	OMIM:235510
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Anisospondyly, Tooth malposition, Craniofacial h...	ORPHA:2484
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Hydrocephalu...	ORPHA:398124
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Abnormal form of the ver...	ORPHA:2839
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the ovary, Abnormal hip bone morphology, Abnormal f...	ORPHA:3130
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Scoliosis, Kyphosis	ORPHA:702
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G...	ORPHA:3019
Jansen-De Vries Syndrome	Small hand, Thin upper lip vermilion, Hyperlordosis, Brachydactyly, Short foot, Wide mouth	OMIM:617450
Progeria-Short Stature-Pigmented Nevi Syndrome	Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Hepatic steatosis, Osteopen...	ORPHA:2959
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Triploidy	Finger syndactyly, Abnormality of the gallbladder, Micrognathia, Narrow mouth, Cryptorchidism, Wi...	ORPHA:3376
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis	OMIM:236660
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Proteus Syndrome	Carious teeth, Finger syndactyly, Open mouth, Cachexia, Abnormal metacarpal morphology, Calvarial...	ORPHA:744
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Cohen Syndrome	Finger syndactyly, Genu valgum, Micrognathia, Cryptorchidism, Open mouth, Arachnodactyly, Neutrop...	ORPHA:193
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev...	ORPHA:94089
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic kyphosis, Lumbar hyperlordosis, Thoracic scoliosis	ORPHA:206546
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Hyperextensibility of the finger joints, Sclerosis of skull base, Hi...	OMIM:313420
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Dumbbell-shaped femur, Abnormality of the e...	ORPHA:485
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Narrow palate, Delayed eruption of permanent tee...	OMIM:265800
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ulcer, Ly...	OMIM:615122
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, Lethargy, Weight loss,...	ORPHA:20
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Cryptorchidism, Abnormal palate morphology, Deep philtr...	ORPHA:2701
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Small for gestational age, Clinodactyly, Failure to thr...	ORPHA:94065
Pulmonary Blastoma	Weight loss	ORPHA:64741
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Delayed eruption of teeth, Lymphopenia, Leukopenia, Gingival overgro...	ORPHA:508542
Myopathy, Centronuclear, 2	Kyphosis, High palate, Scoliosis, Hyperlordosis	OMIM:255200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Genu valgum, Abnormal metatarsal morpholog...	ORPHA:93360
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Hepatomegaly, Holoprosencephaly, S...	OMIM:269860
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Pancytopenia, Hepatomegaly, Lethargy, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Short neck,...	ORPHA:226307
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia...	OMIM:616395
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Subperios...	OMIM:618188
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss, Diabetes insipidus	ORPHA:30925
Microphthalmia, Lenz Type	Abnormality of the dentition, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of fing...	ORPHA:568
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip...	OMIM:184100
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:235
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
49,Xxxxy Syndrome	Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, O...	ORPHA:96264
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, Failure to thr...	OMIM:615547
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thr...	OMIM:617591
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Retrognathia, Micrognathia, Narrow mouth, Joint contracture of the 5th...	ORPHA:352490
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Chronic sinusitis, B lymphocytopenia	OMIM:612692
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells, Recurrent sinusitis	OMIM:619707
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:794
Typical Nemaline Myopathy	Kyphosis, Genu valgum, Micrognathia, Short neck, Hyperlordosis, Genu varum, High palate, Scoliosi...	ORPHA:171436
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad...	OMIM:609625
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs	ORPHA:156728
Severe Canavan Disease	Lethargy	ORPHA:314911
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Lethargy, Thrombocytopenia, Hepatomegaly	OMIM:617397
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Scoliosis, Lumbar hyperlordosis, ...	OMIM:250420
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Hennekam Syndrome	Abnormal oral mucosa morphology, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of f...	ORPHA:2136
Fraser Syndrome 2	Hypoplasia of the thymus, Short neck, Cutaneous syndactyly, Narrow mouth	OMIM:617666
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Micrognathia, Narrow mouth, Wide mouth, Deep philtrum, Thick vermilion border, Clinodac...	OMIM:615834
Desmosterolosis	Bifid uvula, Ventriculomegaly, Failure to thrive, Retrognathia, Micrognathia, Narrow mouth, Splen...	ORPHA:35107
Stiff-Person Syndrome	Anemia, Lumbar hyperlordosis, Depression, Diabetes mellitus	OMIM:184850
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the...	ORPHA:3253
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, High palate, Slender f...	ORPHA:221120
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hepatomegaly, Lethargy, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Small hand, Severe B lymphocytopenia, Exocrine pancreatic ins...	OMIM:620005
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi...	OMIM:619377
Mucopolysaccharidosis, Type X	Platyspondyly, Long philtrum, Irregular acetabular roof, Open bite, Diastema, Widely spaced teeth...	OMIM:619698
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe...	ORPHA:101096
Myasthenic Syndrome, Congenital, 14	High palate, Scoliosis, Hyperlordosis	OMIM:616228
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Tooth malposition, Bifid uvula, Submucous cleft lip, Failu...	ORPHA:96170
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Arachnodactyly, Abnormal testis morphology, Scoliosis, Kyphosis	ORPHA:1548
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ...	ORPHA:2097
Mosaic Trisomy 9	Ventriculomegaly, Finger clinodactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Sho...	ORPHA:99776
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Eosinophilia, Gingivitis, Cr...	ORPHA:2314
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Monosomy 22	Finger syndactyly, Long philtrum, Retrognathia, Hepatosplenomegaly, Open mouth, Aplasia of the th...	ORPHA:96123
Bethlem Myopathy 2	Kyphosis, Scoliosis, Hip dislocation	OMIM:616471
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De...	ORPHA:90673
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Mandibular prognathia, Ventriculomegaly, Sandal gap, Thick lower lip vermilion, Hypog...	OMIM:300354
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Arachnoda...	OMIM:305620
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Osteolysis, Hypogonadi...	ORPHA:3042
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Lethargy, Failure to thrive	ORPHA:2394
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia,...	ORPHA:666
Cockayne Syndrome	Carious teeth, Abnormal epiphysis morphology, Dental malocclusion, Agenesis of permanent teeth, A...	ORPHA:191
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Coxa vara, Clinodactyly of the 5th finger, Dislocated ra...	OMIM:615155
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Lead Poisoning	Depression, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Dec...	ORPHA:330015
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Lethargy, Failure to thrive	OMIM:238970
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, Mesomelic/r...	ORPHA:2347
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Thrombocy...	OMIM:619644
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive	OMIM:245200
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Abnormal shoulder morphology, Hepatosplenomegaly, Abn...	ORPHA:85408
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Ventriculomegaly, Dental crowding, Failure to thrive, Long...	OMIM:609029
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Furrowed tongue, Micrognathia, Open mouth, Narrow mou...	OMIM:615065
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration...	ORPHA:99832
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Hepat...	OMIM:612852
Pseudomyxoma Peritonei	Weight loss, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Idiopathic Bronchiectasis	Cachexia, Clubbing	ORPHA:60033
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Abnormal epiphysis morphology, Abnormal form of the vertebral bod...	ORPHA:3098
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia	OMIM:618969
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia	ORPHA:563609
Hurler-Scheie Syndrome	Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Microgna...	OMIM:607015
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Diabetes mellitus, Hepatic steatosis, Abdominal obesity	OMIM:615980
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Lumbar hyperlordosis, Short neck, Lu...	ORPHA:505248
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia...	OMIM:607326
Alexander Disease	Precocious puberty, Osteopenia, Depression, Failure to thrive, Short neck, Hypothyroidism, Hyperl...	ORPHA:58
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased CSF lactate, Lethargy	OMIM:618225
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Myelomeningocele, Punctate vertebral calcifications, Epiphyseal s...	ORPHA:1914
Xfe Progeroid Syndrome	Ventriculomegaly, Failure to thrive, Cachexia, Enamel hypoplasia, Scoliosis, Premature loss of teeth	OMIM:610965
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Arachnodactyly, Adducted thumb, Hydrocephalus, Shoulder dislocation, Scolios...	ORPHA:2181
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Broad hallux, Pr...	OMIM:175700
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Reduce...	ORPHA:667
Sialidosis Type 1	Abnormal form of the vertebral bodies, Thick lower lip vermilion, Splenomegaly, Scoliosis, Kyphosis	ORPHA:812
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,...	OMIM:608747
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph...	ORPHA:319487
Chst3-Related Skeletal Dysplasia	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irregular epiphy...	ORPHA:263463
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Precocious puberty, ...	ORPHA:819
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary...	ORPHA:227990
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Neonatal death	OMIM:618237
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Short neck, Broad ph...	OMIM:166250
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Delayed eruption of teeth, Long philtrum, Thick lower...	OMIM:614607
Acromesomelic Dysplasia 1	Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epi...	OMIM:602875
Camurati-Engelmann Disease	Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Slender build, Sclerosis of sk...	OMIM:131300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of t...	OMIM:130060
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal hip bone morphology, Abnormal palate morphology, Hypogonadotr...	ORPHA:3068
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Precocious puberty, Ventriculomegaly, Sandal gap, Finger syndactyly, Long philt...	ORPHA:254346
Malan Syndrome	Mandibular prognathia, Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperpl...	OMIM:614753
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia, Decreased CSF homovanillic acid concentration	ORPHA:101150
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Long philtrum, Letharg...	ORPHA:765
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Failure to thrive ...	ORPHA:79124
Carnitine Deficiency, Systemic Primary	Failure to thrive, Decreased carnitine level in liver, Microvesicular hepatic steatosis, Lethargy...	OMIM:212140
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegal...	OMIM:267700
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Elevated circulating calcitonin concentration, Proximal femoral epiphysiolys...	OMIM:162300
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Failure to thri...	ORPHA:96148
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Kyphosis, Failure to thrive	ORPHA:319199
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Adrenal medullary hypoplasia, Depression, Genu valgum, Hydrocephalus, Mandibular prognathia	OMIM:248000
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary...	ORPHA:227982
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Broad hallux, Sandal gap, Long philtrum, Ankyloglossia, Cutaneous...	OMIM:616078
Genitopalatocardiac Syndrome	Downturned corners of mouth, Non-midline cleft of the upper lip, Abnormal mesentery morphology, A...	ORPHA:2075
Coccidioidomycosis	Increased CSF protein concentration, Granuloma, Abnormality of the vertebral column, Hypoglycorrh...	ORPHA:228123
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Recurrent sinusitis, B lymphocytopenia	ORPHA:217390
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, Malar flatte...	OMIM:612813
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Hyperlordosis, Back pain	OMIM:618129
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Everted upper lip vermilion, Delayed eruption of tee...	ORPHA:420561
Nijmegen Breakage Syndrome	Acute leukemia, Retrognathia, Autoimmune hemolytic anemia, Short neck, Cachexia, Deep philtrum, T...	ORPHA:647
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Failure to thrive, Absent hand, Leukopenia, Po...	ORPHA:974
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, High, narrow palate, Broad thumb, Broad phalanx of the toes, Narrow mou...	ORPHA:79076
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Immunodeficiency 31C	Osteopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Weight loss, Hypothyroidism, ...	OMIM:614162
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic ane...	OMIM:557000
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognat...	OMIM:617746
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th...	OMIM:210710
Autosomal Recessive Centronuclear Myopathy	Bifid uvula, Retrognathia, Narrow mouth, Hip contracture, Hyperlordosis, Long fingers, High palate	ORPHA:169186
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Cryptorchidi...	OMIM:615873
Lig4 Syndrome	Acute leukemia, Pancytopenia, Micrognathia, Leukocytosis, Cryptorchidism, Type II diabetes mellit...	ORPHA:99812
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Eosinophilia, Lymphocytosis, Weight loss, Lymphadenopathy, Enanthema, Thyroiditis	ORPHA:139402
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Cryptorchidism, Kyphoscoliosis, Flexion contracture of finger, Adducte...	OMIM:618484
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Osteopenia, Dental malocclusion, Failure to thrive, Open bite, Micr...	OMIM:115150
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Central Neurocytoma	Lethargy, Depression, Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt...	OMIM:618761
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Hydrocephalus, Cleft upper lip, Abnormal mast cell morphology	ORPHA:398189
Ruvalcaba Syndrome	Small hand, Kyphosis, Dental crowding, Cryptorchidism, Delayed puberty, Short foot, Short metatar...	OMIM:180870
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Lateral ventricle dilatation, Hepatosple...	OMIM:619487
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Failure to thrive, Micrognathia, Tented upper lip vermilion, Acetabular dysplas...	OMIM:619833
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Multiple Sulfatase Deficiency	Broad thumb, Splenomegaly, Smooth philtrum, Hydrocephalus, Hepatomegaly, Broad hallux phalanx	ORPHA:585
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Postnatal growth retardation, Intrauterine growth retardation, Decreased skull ossifi...	ORPHA:93324
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Femoral bowing, Hepatic ...	OMIM:615415
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Scoliosis, Hyperlordosis	OMIM:617760
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Lethargy, Failure to thrive	ORPHA:927
Ullrich Congenital Muscular Dystrophy	Slender finger, Kyphosis, Increased laxity of fingers, Micrognathia, Abnormal palate morphology, ...	ORPHA:75840
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Coffin-Siris Syndrome 3	Long philtrum, Delayed eruption of permanent teeth, Wide mouth, Dandy-Walker malformation, Thick ...	OMIM:614608
H Syndrome	Cleft upper lip, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Gingival overg...	ORPHA:168569
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Pancreatic islet-cell hype...	ORPHA:263455
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Cachexia	ORPHA:1933
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal lymphocyte count, Ly...	OMIM:612783
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Wide mouth, High palate, Scoliosis, Ta...	OMIM:618825
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Short thumb, Delayed eruption of teeth, Long phi...	ORPHA:2712
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Small for gestational age, Disproportionate short-limb sh...	OMIM:166210
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Failure to thrive, Retrognathia, Cryptorchidism, Protruding tongue, Alveolar ridge o...	OMIM:612938
Mucolipidosis Iii Gamma	Genu valgum, Flared iliac wing, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Finger...	OMIM:252605
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Encep...	ORPHA:90652
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Failure to thrive, Cholestasis, Leukocytosis, Splenomegaly, Hepa...	OMIM:615895
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ...	ORPHA:97290
Renal Hypoplasia, Bilateral	Failure to thrive, Cryptorchidism, Lethargy, Anemia, Small for gestational age	ORPHA:97362
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Hyperlordosis, Metatarsus adductus, Hip dysplasia, Scoliosis, Kyphosis	OMIM:181405
Pseudohypoparathyroidism Type 1C	Short neck, Short metacarpal, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal...	ORPHA:79444
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Brain abscess, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Neonatal death...	OMIM:616482
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatospl...	OMIM:603553
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Cryptorchidism,...	ORPHA:534
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy, Hypothyroidism, Goiter	OMIM:274400
Cockayne Syndrome A	Ventriculomegaly, Carious teeth, Square pelvis bone, Kyphosis, Failure to thrive, Dental malocclu...	OMIM:216400
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Increased mean corpuscular volume, Long philtrum, Micrognathia, Wide mouth, Cry...	ORPHA:261250
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Spinal rigidity	OMIM:609308
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Sinusitis, B lymphocytopenia	ORPHA:70593
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Pancreatitis, He...	ORPHA:2348
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Portal hypertension, Splenomegaly, Congenital hepatic fibrosis, Intrahep...	ORPHA:1454
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Failure to thrive, Chronic hepatitis, Splenomeg...	OMIM:308230
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Smooth philtrum, Lethargy, Megaloblastic anemia, Hydrocephalus, Thrombocytopen...	OMIM:277400
Hypercalcemia, Infantile, 1	Lethargy, Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive	OMIM:143880
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, Abnormal lymphatic vessel morpholo...	ORPHA:90362
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, Hydrocephalus, High palate, Abn...	ORPHA:2720
Trisomy 18	Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Na...	ORPHA:3380
3Mc Syndrome	Caudal appendage, Downturned corners of mouth, Supernumerary nipple, Bilateral cryptorchidism, Ra...	ORPHA:293843
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Lethargy	ORPHA:205
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Cryptorchidism, Micrognathia, Narrow mouth, Crowded carpal bones, Ab...	OMIM:102500
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope...	OMIM:616294
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Lumbar hyperlordosis, Hammertoe	ORPHA:435387
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow...	OMIM:187600
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Ventriculomegaly, Abnormal sacroiliac joint morphology,...	ORPHA:2655
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Radioulnar synostosis, Short hallux, Hip dislocation, Precocious pu...	OMIM:194190
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Short phil...	OMIM:615433
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat...	ORPHA:3082
Primary Ciliary Dyskinesia	Ventriculomegaly, Polysplenia, Chronic sinusitis, Hydrocephalus, Asplenia, Clubbing	ORPHA:244
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Overweight, Increased...	OMIM:619769
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal pala...	ORPHA:93262
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger...	ORPHA:391474
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Obesity, Micrognathia, Type II diabetes mellitus, Biliary tract abnor...	ORPHA:3191
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Short neck...	OMIM:143095
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Downturned corners of mouth, Delayed erupt...	OMIM:135500
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Kyphosis	OMIM:609384
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortic...	OMIM:610475
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Kyphosis, Failure to thrive, Splenomegaly, Macrocytic anemia, ...	OMIM:615512
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth	ORPHA:375
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Cockayne Syndrome B	Small for gestational age, Square pelvis bone, Kyphosis, Failure to thrive, Carious teeth, Dental...	OMIM:133540
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of the thyroid gland, Short hard palate, Cachexia, Genu varum, Sco...	ORPHA:1969
Chondrodysplasia-Difference Of Sex Development Syndrome	Severe short stature, Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossific...	ORPHA:1422
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Increased CSF lactate, Lethargy, Hepatomegaly, High palate	OMIM:604377
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Micrognathia, Cry...	OMIM:249000
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Postnatal growth retardation, Intrauterine growth ret...	OMIM:616145
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Precocious puberty, Retrognathia, Long philtrum, Micrognathia, Wide mouth, C...	ORPHA:96092
Biotinidase Deficiency	Hepatomegaly, Lethargy, Splenomegaly	OMIM:253260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Retrognathia, B lymphocytopenia	OMIM:614069
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i...	OMIM:210720
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone	OMIM:603896
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Failure to thrive, Diastema, Decreased response to growth hormone stimulation t...	OMIM:609757
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Mandibular prognathia, Annular pancreas, Short thumb, Del...	OMIM:268400
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Abnormal palate morphology, Short neck, Hydrocephalus	ORPHA:251046
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Aplastic...	OMIM:300514
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Ventriculomegaly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Microgna...	OMIM:617866
Multiple Myeloma	Osteopenia, Splenomegaly, Weight loss, Lymphadenopathy, Anemia, Vertebral compression fracture	ORPHA:29073
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Thick lower lip vermilion, Hand polydactyly, Irregularl...	OMIM:300337
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela...	OMIM:600373
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Glutaric Acidemia Type 3	Lethargy, Failure to thrive, Sacral dimple	ORPHA:35706
Femoral-Facial Syndrome	Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Absent vertebra, Preaxial hand po...	OMIM:134780
Sotos Syndrome	High, narrow palate, Narrow palate, Long metacarpals, Mandibular prognathia, Ventriculomegaly, Ge...	OMIM:117550
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Neonatal death, Hydrocephalus, Hemivertebrae, Postaxia...	ORPHA:85284
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies	ORPHA:1354
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t...	ORPHA:436252
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac...	OMIM:187900
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis	OMIM:613818
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Cockayne Syndrome Type 2	Mandibular prognathia, Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary ...	ORPHA:90322
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, High iliac wing,...	ORPHA:50814
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Erlenmeyer flask deformity of the femu...	OMIM:618476
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ...	OMIM:619229
Craniolenticulosutural Dysplasia	Bifid uvula, Osteopenia, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth, D...	OMIM:607812
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Cryptorchidism, Short neck, High palate, Scoliosis, Kyphosis	ORPHA:178148
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, H...	OMIM:300863
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Type I diabetes mellitus, Delayed eruption of teeth, Everted uppe...	ORPHA:181
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Beemer-Ertbruggen Syndrome	Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia, Increased bone mineral density, Co...	ORPHA:1237
Thanatophoric Dysplasia Type 2	Platyspondyly, Ventriculomegaly, Encephalocele, Brachydactyly, Hydrocephalus, Holoprosencephaly, ...	ORPHA:93274
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98863
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Long philtrum, Micrognathia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Nar...	ORPHA:109
Icf Syndrome	Lymphopenia, Micrognathia, Communicating hydrocephalus, Protruding tongue, Anemia, Macroglossia, ...	ORPHA:2268
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Lumbar hyperlordosis, Bone cyst, Camptodactyly of toe, Coxa vara, Osteop...	ORPHA:2848
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Adrenal insuffi...	OMIM:240300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98855
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Delayed puberty,...	ORPHA:633
Myopathy, Centronuclear, 1	Hyperlordosis	OMIM:160150
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Edinburgh Malformation Syndrome	Slender finger, Ulnar deviation of finger, Failure to thrive, Downturned corners of mouth, Microg...	ORPHA:1895
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Tooth malposition, Abnormality of the dentition, Failure to thrive, ...	ORPHA:2785
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Decreased calvarial ossification, Short lower limbs, Sc...	OMIM:259440
Cowden Syndrome 1	Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Lymphopenia, Furrowed tongue, Micrognathia, N...	OMIM:158350
Pseudohypoparathyroidism Type 1A	Short neck, Short metacarpal, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal...	ORPHA:79443
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Gómez-López-Hernández Syndrome	Thin vermilion border, Hydrocephalus	ORPHA:1532
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Post...	ORPHA:1106
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity, Split hand, Scoliosis, Kyphosis	OMIM:618124
Pallister-Hall-Like Syndrome	Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Microglossia, Occipital encephalocel...	OMIM:241800
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Broad long bones, Micrognathia, Malar flattening, Encephalocele, Bowing of the long bones, Narrow...	OMIM:224400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Precocious puberty, Periodontitis, Short to...	OMIM:619269
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Dental crowding, Micrognathia, Narrow mouth, Hepatic steatosis, Cryptorchidism...	OMIM:615381
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Osteopenia, Failure to thrive, Long philtrum, Malar flattening, Bowin...	OMIM:612940
Alg12-Cdg	Ventriculomegaly, Sandal gap, Failure to thrive, Overlapping fingers, Micrognathia, Cryptorchidis...	ORPHA:79324
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ...	ORPHA:2409
Johanson-Blizzard Syndrome	Abnormality of the dentition, Failure to thrive, Delayed eruption of teeth, Exocrine pancreatic i...	ORPHA:2315
Marfan Syndrome	High, narrow palate, Osteopenia, Dental crowding, Retrognathia, Open bite, Slender build, Microgn...	ORPHA:558
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphad...	OMIM:617099
Benign Samaritan Congenital Myopathy	Lethargy, Narrow mouth	ORPHA:324581
Huntington Disease-Like 2	Depression, Apathy, Weight loss, Inertia, Bradykinesia	OMIM:606438
Biemond Syndrome Type 2	Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hydr...	ORPHA:141333
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormal cortical bone morphology, Prominence of the premaxilla, Decreased body w...	OMIM:614886
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Failur...	OMIM:620099
Opitz-Kaveggia Syndrome	Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short neck, Syndactyly, Prominent finger...	OMIM:305450
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Increased CSF lactate, Neonatal death, Lethargy, Increased CSF glycine concent...	OMIM:605711
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Decreased response to growth hormone stimulation test, Long hallux, Lumbar hyperl...	OMIM:619234
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Depression, Rickets, Failure to thrive, Recurrent aphthous stomatitis, ...	OMIM:212750
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Kyphosis, Dental crowding, Abnorma...	ORPHA:3121
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Equinus calcaneus, Lethargy, Hypoparathyroidism, Diffu...	ORPHA:746
Lysinuric Protein Intolerance	Osteopenia, Hemophagocytosis, Failure to thrive, Hepatic amyloidosis, Decreased response to growt...	ORPHA:470
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Toe syndactyly, Ventriculomegaly, Downturned corners of...	ORPHA:238750
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Lethargy, Increased mean corpuscular volume	OMIM:277410
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ...	OMIM:620376
Houge-Janssens Syndrome 2	Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermili...	OMIM:616362
Holoprosencephaly	Abnormality of the spleen, Cryptorchidism, Encephalocele, Short neck, Holoprosencephaly, Failure ...	ORPHA:2162
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Kypho...	OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Disproportionate short stature, Abnormal pelvic girdle bone morphology, F...	OMIM:222765
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cryptorchidism, Irregular dentition...	OMIM:602535
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Fg Syndrome Type 1	Small pituitary gland, Ventriculomegaly, Dental crowding, Clinodactyly of the 2nd finger, Finger ...	ORPHA:93932
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Clinodactyly, Delayed eruption of teeth, Hypogonadism, Micrognathia, Truncal o...	ORPHA:73272
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Scoliosis, Hyperlordosis	OMIM:620285
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Scoliosis	ORPHA:300605
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba...	OMIM:169550
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Kyphosis, Failure to thrive, Eruption fa...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Growth delay, Short femur	OMIM:617798
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Abnorma...	ORPHA:1656
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Short neck, Hyperlo...	ORPHA:3218
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, D...	ORPHA:261330
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Ulnar deviation of finger, Finger syndactyly, Downturned corners of mouth,...	ORPHA:2215
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Extra-axial cerebrospinal fluid accumulation, Dental crowding, Micrognathia, Cryptorchidism, Decr...	OMIM:619005
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Retrognathia,...	ORPHA:83617
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypoplastic ilia...	ORPHA:163966
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98853
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de...	ORPHA:169090
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo...	ORPHA:3353
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lethargy, Increased CSF glycine concentration	OMIM:614299
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Dihydropyrimidinase Deficiency	Elevated CSF dihydrouracil concentration, Lethargy, Short phalanx of finger, Failure to thrive	OMIM:222748
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Super...	ORPHA:464
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han...	OMIM:276950
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Cryptorchidism, Protruding tongue, Absent frontal sinuses, Widely-spaced maxillary ...	OMIM:301040
Srd5A3-Cdg	Microcytic anemia, Decreased response to growth hormone stimulation test, Hypothyroidism, Abnorma...	ORPHA:324737
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Isolated Atp Synthase Deficiency	Hepatomegaly, Lethargy, Hypothyroidism, Hypogonadism	ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 11	Increased CSF lactate, Hepatic steatosis, Neonatal death, Lethargy, Stillbirth, Hepatomegaly	OMIM:614922
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Kyphoscoliosis	OMIM:300886
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Slender long bone, Protrusio acetabuli, Micrognathia, Tibial bowing, B...	OMIM:259420
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Anisospondyly, Broad long bones, Clubbing of fingers, Micrognathia, Narrow mout...	ORPHA:1865
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Scoliosis, Hydrocephalus	ORPHA:99947
Kleeblattschaedel	Craniosynostosis, Hydrocephalus	OMIM:148800
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Streak ovary, Micrognathia, Radioulnar synostosis, Short ne...	ORPHA:798
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphy...	OMIM:614856
Diabetic Embryopathy	Spinal dysraphism, Micrognathia, Cryptorchidism, Vertebral segmentation defect, Hydrocephalus, Ab...	ORPHA:1926
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Bruck Syndrome 1	Platyspondyly, Abnormality of the dentition, Vertebral wedging, Hip contracture, Coxa vara, Osteo...	OMIM:259450
Mitochondrial Complex I Deficiency, Nuclear Type 1	Increased CSF protein concentration, Failure to thrive, Increased CSF lactate, Splenomegaly, Leth...	OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Smooth philtrum, Lethargy, Megaloblastic anemia, Hydrocephalus, Thrombocytopen...	ORPHA:79282
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Cleft palate	ORPHA:85317
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnormal shoulder...	ORPHA:2115
Autoinflammatory Disease, Systemic, X-Linked	Conical tooth, Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko...	ORPHA:53035
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Micrognathia, 2-3 finger...	ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 73	Premature adrenarche, Ankyloglossia, Cleft soft palate, Cryptorchidism, Thoracolumbar scoliosis, ...	OMIM:620450
Noonan Syndrome 14	High, narrow palate, Clinodactyly, Long philtrum, Lateral ventricle dilatation, Lymphopenia, Cryp...	OMIM:619745
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Pancytopenia, Ventriculomegaly	OMIM:618321
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Asplenia, Communicating hydrocephalus, Chronic sinusitis	OMIM:244400
Cockayne Syndrome Type 1	Abnormality of the dentition, Mandibular prognathia, Male hypogonadism, Failure to thrive, Widely...	ORPHA:90321
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Clinodactyly, Breast hypoplasia, Lumbar hyperlor...	ORPHA:1439
Mgat2-Cdg	Osteopenia, Dental crowding, Failure to thrive, Open mouth, Hypoplastic nipples, Impaired lymphoc...	ORPHA:79329
Idiopathic Achalasia	Weight loss	ORPHA:930
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Encephalocele, Hi...	OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,...	ORPHA:236
Cog1-Cdg	Osteopenia, Failure to thrive, Long philtrum, Hepatosplenomegaly, Micrognathia, Butterfly vertebr...	ORPHA:263508
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Triangular mouth...	OMIM:257300
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Decreased response to growth hormone sti...	ORPHA:289494
Distal Triplication 15Q	Retrognathia, Large for gestational age, Micrognathia, Arachnodactyly, Hydrocephalus, Camptodacty...	ORPHA:314588
Semilobar Holoprosencephaly	Bifid uvula, Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth ...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth ...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth ...	ORPHA:93924
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog...	ORPHA:3429
Char Syndrome	Toe syndactyly, Supernumerary nipple, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Per...	ORPHA:46627
Anaplastic Thyroid Carcinoma	Goiter, Weight loss, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma	ORPHA:142
Meckel Syndrome	Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol...	ORPHA:564
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Open mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Precociou...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Open mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Precociou...	ORPHA:363958
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Clubbing of toes, Weight loss	ORPHA:2198
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Lumbar hyperlordosis, Hydroc...	ORPHA:370959
Budd-Chiari Syndrome	Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega...	ORPHA:131
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Radioulnar synostosis, Short neck, ...	OMIM:245600
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, Abnormal finger morphology, Sy...	ORPHA:2658
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Failure to thrive, ...	OMIM:601812
Intestinal Dysmotility Syndrome	Broad philtrum, Weight loss, Failure to thrive, High palate	OMIM:620045
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:86812
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Depression, Cranial hyperostosis, Widely spaced teeth, Abnormality of ...	ORPHA:309282
Baralle-Macken Syndrome	High, narrow palate, Obesity, Kyphosis, Tapered finger	OMIM:619255
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Ventriculomegaly, Lipid accumulation in hepatocytes, Hepatic calcific...	OMIM:608836
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Ventriculomegaly, Large for gestational age, Communicating hydrocephalus, ...	OMIM:617011
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Hip contracture, Generalized lymphadenopathy, Vertebral compressi...	OMIM:620232
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Hypogonadism, Genu valgum, Short neck, Thin vermilion border, Spina ...	ORPHA:2983
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Weight loss, Leukocytosis	ORPHA:2070
Trisomy 20P	Finger syndactyly, Micrognathia, Cryptorchidism, Short neck, Everted lower lip vermilion, Downtur...	ORPHA:261318
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Hypoplasia of the maxilla, Small for gestational age	OMIM:618302
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Tooth malposition, Failure to thrive, Flare...	OMIM:309350
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Adrenal hypoplasia, Hemivert...	OMIM:220210
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Depression, Increased circulating cortisol level, Decreased circulating ACTH concentr...	OMIM:219080
3C Syndrome	High, narrow palate, Ventriculomegaly, Finger syndactyly, Abnormal hip bone morphology, Micrognat...	ORPHA:7
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Finger syndactyly, Delayed e...	ORPHA:87
Raine Syndrome	Mandibular prognathia, Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, M...	OMIM:259775
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Anemia, Pes planus, E...	OMIM:300990
Recon Progeroid Syndrome	Dental crowding, Delayed eruption of permanent teeth, Long thumb, Prominence of the premaxilla, A...	OMIM:620370
Congenital Myopathy 10B, Mild Variant	High palate, Scoliosis, Hyperlordosis, Cleft palate	OMIM:620249
Lateral Meningocele Syndrome	Dental crowding, Long philtrum, Sclerosis of skull base, Micrognathia, Cryptorchidism, Biconcave ...	OMIM:130720
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Postaxial foot polydactyly, Occipital...	OMIM:607361
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri...	ORPHA:2232
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Short neck, ...	ORPHA:168577
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Micrognathia, Splenomegaly, Hepatic steatosis, Polycystic ovaries, A...	ORPHA:280365
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste...	OMIM:617952
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Lethargy, Macrovesicular hepatic steatosis	OMIM:600649
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, High palate, Pierre-Robin sequence, C...	OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Dilated third ventricle, Ventriculomegaly, Failure to thrive, Hypogonadism, Cryptorch...	ORPHA:500055
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Hip dislocation, Downturned corners of mouth, Puberty and gonadal disorders, Obesity, Scoliosis, ...	ORPHA:464282
Citrullinemia Type Ii	Hepatic fibrosis, Decreased body mass index, Delayed menarche, Hepatic steatosis, Lethargy, Pancr...	ORPHA:247585
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hyperphenylalaninemia, Bh4-Deficient, B	Increased CSF phenylalanine concentration, Lethargy	OMIM:233910
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Failure to thrive, Goiter, Abnormality of the liver, Bipolar affective disorder, Leth...	ORPHA:254892
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Talipes, Pes planus, Short hallux, Short 5th finger, Abn...	ORPHA:508488
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia...	OMIM:308300
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating calcitonin conce...	ORPHA:653
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ...	OMIM:610915
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Micrognathia, C...	OMIM:619503
Myopathy, Myofibrillar, 7	Spinal rigidity, Tongue atrophy, Shoulder flexion contracture, Lumbar hyperlordosis, Scoliosis, T...	OMIM:617114
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity...	OMIM:157980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Ventriculomegaly, Microretrognathia, Failure to thri...	OMIM:619418
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Congenital Myopathy 22A, Classic	Dental crowding, Micrognathia, Open mouth, Hip contracture, Neonatal death, Thoracic scoliosis, C...	OMIM:620351
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Scoliosis, High palate	ORPHA:353327
Multifocal Atrial Tachycardia	Lethargy, Hypothyroidism, Cryptorchidism	ORPHA:3282
Congenital Sialidosis Type 2	Hepatosplenomegaly, Gingival overgrowth, Protruding tongue, Polydactyly, Hydrocephalus, Hepatomegaly	ORPHA:93400
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Abnormal form of the vertebral ...	ORPHA:2769
Trisomy 17P	Macroglossia, Micrognathia, Narrow mouth, Malar flattening, Wide mouth, Smooth philtrum, Short ne...	ORPHA:261290
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Depression, Scoliosis, Hyperlordosis	OMIM:128100
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopath...	ORPHA:1572
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia...	OMIM:269200
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small epip...	OMIM:616723
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Nail-Patella Syndrome	Proximal finger joint hyperextensibility, Spondylolysis, Patellar hypoplasia, Abnormal tibia morp...	ORPHA:2614
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Micrognathia,...	OMIM:619356
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Ventriculomegaly, Retrognathia, Long philtrum, Micrognathia, Short philtrum,...	OMIM:620156
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Retrognathia, Hyperplasia of the maxilla, Kyphoscoliosis, Dislocation...	OMIM:300280
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Stromme Syndrome	Accessory spleen, Preaxial polydactyly, Micrognathia, Hydrocephalus, Stillbirth, Wide mouth, Clef...	OMIM:243605
Riboflavin Deficiency	Lethargy	OMIM:615026
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,...	OMIM:214500
X-Linked Creatine Transporter Deficiency	Cachexia, Open mouth, Malar flattening	ORPHA:52503
Citrullinemia Type I	Lethargy, Failure to thrive	ORPHA:247525
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, C...	OMIM:616034
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Failure to thrive, Depression, Long philtrum, Ankyloglossia, Clinoda...	ORPHA:250989
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Hyperlordosis, Hepatomegaly, Acute pancreatitis, Wide anterior fontanel	ORPHA:26791
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Short neck, High, narrow palate, Precocious puberty...	OMIM:619950
Lopes-Maciel-Rodan Syndrome	Small hand, Bradykinesia, Short foot, Scoliosis, Kyphosis	OMIM:617435
Amyotrophic Lateral Sclerosis	Cachexia, Depression, Tongue atrophy	ORPHA:803
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis,...	OMIM:277600
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop...	ORPHA:540
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Failure to thrive, Short humerus, Polydactyly, Growth delay, Short ...	ORPHA:17
Alexander Disease	Increased CSF protein concentration, Apathy, Hydrocephalus	OMIM:203450
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Short...	ORPHA:251014
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Large for gestational age, Micrognathia, Kyphosis, Sacral dimple	OMIM:618272
Monosomy 9Q22.3	Ventriculomegaly, Abnormality of the vertebral column, Delayed eruption of teeth, Long philtrum, ...	ORPHA:77301
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Infantile Krabbe Disease	Increased CSF protein concentration, Cachexia, Failure to thrive	ORPHA:206436
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Solitary median max...	ORPHA:952
Erythrokeratodermia Variabilis	Weight loss, Brachydactyly, Abnormal testis morphology, Diabetes mellitus, Tapered finger	ORPHA:317
Juvenile Huntington Disease	Depression, Bradykinesia, Weight loss, Ventriculomegaly	ORPHA:248111
Short Syndrome	Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Downturned corn...	OMIM:269880
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Micrognathia, Thymus hyperplasia	OMIM:619036
Brucellosis	Depression, Granuloma, Failure to thrive, Sacroiliac arthritis, Hypersplenism, Leukopenia, Leukoc...	ORPHA:1304
Kabuki Syndrome	Small hand, Cryptorchidism, Vertebral clefting, High palate, Hip dislocation, Short 5th finger, P...	ORPHA:2322
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Kleefstra Syndrome 1	Natal tooth, Obesity, Persistence of primary teeth, Cryptorchidism, Protruding tongue, Malar flat...	OMIM:610253
Shprintzen-Goldberg Craniosynostosis Syndrome	C1-C2 vertebral abnormality, Narrow palate, Hypoplasia of the maxilla, Osteopenia, Dental maloccl...	OMIM:182212
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Ventriculomegaly, Abnormality of the vertebral column, Malar flattenin...	OMIM:109120
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormality of...	ORPHA:1666
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Craniofacial hyperostosis, Recurrent tonsillitis, Ventriculomegaly,...	ORPHA:581
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, ...	ORPHA:2916
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Small for gestational age, Absent thumb, Short thumb, Annular pancre...	OMIM:227646
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Mandibular prognathia, Slender...	ORPHA:364028
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Vertebral wedging, Cleft upper lip, Ova...	OMIM:109400
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia...	OMIM:301310
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus...	OMIM:176270
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Oral leukoplakia, Pancytopenia, B...	OMIM:620133
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Abnormal form of the vertebra...	ORPHA:3238
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Acute hepatic steatosis, Failure to thrive	OMIM:210200
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Flat acetabular roof, Cleft lip, Hamarto...	OMIM:616300
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Cryptorchidism, Neonatal death, Holopros...	OMIM:146510
Shprintzen-Goldberg Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Ventriculomegaly, Abnormal form of th...	ORPHA:2462
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Micrognathi...	ORPHA:314585
Meningococcal Meningitis	Increased CSF protein concentration, Hypoglycorrhachia, Lethargy, Increased circulating procalcit...	ORPHA:33475
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, High palate, Thor...	OMIM:618371
Mitochondrial Trifunctional Protein Deficiency 1	Cholestasis, Lethargy, Small for gestational age, Failure to thrive	OMIM:609015
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnormal form of the vertebral bod...	ORPHA:2067
Kleefstra Syndrome 2	Bifid uvula, Scoliosis, Kyphosis, Everted lower lip vermilion	OMIM:617768
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Open mouth, Lethargy, Thrombocytopenia, Increased CSF glycine concentration	OMIM:620423
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Holocarboxylase Synthetase Deficiency	Lethargy, Thrombocytopenia	OMIM:253270
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni...	OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hyperlordosis	OMIM:611588
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Type I diabetes mellitus, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia...	ORPHA:436159
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Abnormal dental morphology, Narrow mouth, Malar flattening, Ten...	OMIM:612582
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Hepatomegaly, Weight loss, Lymp...	ORPHA:85450
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Weight loss	ORPHA:449400
Acalvaria	Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate	ORPHA:945
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Broad thumb, Lumbar hyperlordosis, Short neck, Brachydactyly, Mandibular prognathia	ORPHA:171866
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Increased CSF lactate, Leukocytosis, Hypothyroidism, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hydranencephaly, Hepatic sinusoidal dilatation, Small for gestational age, Microre...	OMIM:620371
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Scoliosis, Broad hallux, Sacral dimple, Long hallux, Arachnodactyly, Short p...	OMIM:613776
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Osteomalacia, Decreased proportion of naive T cells...	OMIM:619381
Gaucher Disease	Splenic infarction, Gingival bleeding, Cholelithiasis, Depression, Osteopenia, Hepatitis, Ventric...	ORPHA:355
Kleefstra Syndrome	Mandibular prognathia, Ventriculomegaly, Downturned corners of mouth, Delayed eruption of teeth, ...	ORPHA:261494
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of fin...	OMIM:602782
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Decreased testicular size, Persistence of primary teeth, Abnormal circulating foll...	ORPHA:93325
Crouzon Syndrome	Hypoplasia of the maxilla, Multiple suture craniosynostosis, Hydrocephalus, Narrow palate, Abnorm...	ORPHA:207
Nail-Patella Syndrome	Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head, Lumbar hyperlord...	OMIM:161200
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Kyphosis, Hypogonadism	ORPHA:1875
Monosomy 18Q	Secondary growth hormone deficiency, Mandibular prognathia, Failure to thrive, Downturned corners...	ORPHA:1600
Mucolipidosis Type Ii	Kyphosis, Hepatosplenomegaly, Gingival overgrowth, Abnormal long bone morphology, Splenomegaly, H...	ORPHA:576
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Elevated circulating luteinizing hormone lev...	ORPHA:95699
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Hallux valgus, Hyperlordosis, Scoliosis, Hip dislocation, Hyperextensibility of the fin...	OMIM:617821
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Thick upper lip vermilion, Open mouth, Thin upper lip vermilion, Hydroc...	OMIM:300558
Sweet Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:3243
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl...	OMIM:274000
Graft Versus Host Disease	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Oral ulcer, Lymphadenopathy, Trismus, Ch...	ORPHA:39812
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Ventriculomegaly, Kyphosis, Abnormal dental en...	ORPHA:96169
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ventricle dilatation, Overlappi...	ORPHA:464738
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Hepatomegaly, Ch...	ORPHA:79259
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Short neck, High palate, Dislocated radial head, High, narrow palat...	OMIM:122470
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Microretrognathia, Kyphosis, Downturned corners of mouth, Long philtrum, Hip co...	OMIM:301041
Houge-Janssens Syndrome 1	Congenital hip dislocation, Ventriculomegaly, Open mouth, Hydrocephalus, Scoliosis	OMIM:616355
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, M...	OMIM:108300
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Diabetes mellitus, Abno...	ORPHA:90003
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Shashi-Pena Syndrome	Ventriculomegaly, Kyphosis, Retrognathia, Cervical C2/C3 vertebral fusion, Thin upper lip vermili...	OMIM:617190
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Long philtrum,...	ORPHA:2311
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Scoliosis, Kyphosis	ORPHA:816
Malt Lymphoma	Abnormality of the thyroid gland, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Slender long bone, Downturned corners of mouth, Wide mouth, Malar flattening, Thin up...	OMIM:618590
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Narrow palate, Short f...	OMIM:608328
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Granuloma, Long philtrum, Abnormal tibia morphology, Abnormality...	ORPHA:363700
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Sandal gap, Failure to thrive, Downturned corners of mouth, Crypt...	OMIM:617602
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
Iniencephaly	Absent vertebra, Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Orofacial clef...	ORPHA:63259
Tetrasomy 5P	Failure to thrive, Long philtrum, Overlapping toe, Micrognathia, Short neck, Short hallux, Hydroc...	ORPHA:3309
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ...	ORPHA:65682
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Lethargy, Hepatomegaly	OMIM:201475
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Abnormal thoracic spine morphology, Back pain, Weight loss, Pancreatitis, Ane...	ORPHA:370348
Marden-Walker Syndrome	High, narrow palate, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, R...	OMIM:248700
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal femur morphology, Cryptorchidism, Abnormal palate morpholo...	ORPHA:2063
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Lethargy	ORPHA:156
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism, Short neck, Abnormal...	ORPHA:818
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Micrognathia, Cryptorchidism, Short neck, Brachydactyly, Thr...	OMIM:147791
Williams Syndrome	Carious teeth, Open bite, Genu valgum, Micrognathia, Cryptorchidism, Type II diabetes mellitus, P...	ORPHA:904
Insulin Autoimmune Syndrome	Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus	ORPHA:411593
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Abs...	OMIM:617925
Mend Syndrome	Asymmetry of the mouth, Broad hallux, Failure to thrive, Sacral dimple, Overlapping toe, Overlapp...	ORPHA:401973
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Weight loss	ORPHA:188
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Cryptorchidism, Encephalocele, Aplasia/Hypoplasia ...	ORPHA:2911
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Oligodontia, 2-3 toe synd...	OMIM:617061
Robinow Syndrome	Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Cryp...	ORPHA:97360
Crisponi Syndrome	Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth, High palate, Scoliosis, Kyphosis	ORPHA:1545
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Dandy-Walker malformation, Postaxial hand...	OMIM:611134
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Patchy sclerosis of finger phalanx...	OMIM:218400
Cousin Syndrome	Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the femoral head, Fibular aplasia, M...	OMIM:260660
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia, Malar flattening, Hydro...	OMIM:620157
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Absent thumb, Hypoplastic sacrum, Micrognathia, Short neck, Hydrocep...	OMIM:614083
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Dysplastic patella, Arachnodactyly,...	OMIM:265000
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Huntington Disease-Like 1	Ventriculomegaly, Depression, Abnormal shoulder morphology, Weight loss, Bradykinesia	ORPHA:157941
Farber Disease	Hepatic fibrosis, Short toe, Failure to thrive, Short finger, Hepatosplenomegaly, Lymphadenopathy...	ORPHA:333
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Failure to thrive, Delayed eruption of teeth, Narrow mout...	ORPHA:2962
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Ventriculomegaly, Recurrent aphthous stomatitis, Hypoinsulinem...	OMIM:616260
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviati...	OMIM:609128
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Fasting hyperinsulinemia, Hepatic necrosis, Hepatic steatosis, Lethargy, Hyper...	ORPHA:71212
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemo...	ORPHA:391487
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Cryptorchidism, Hepatic steatosis, Cir...	OMIM:270400
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Malar fl...	ORPHA:53271
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Familial Calcium Pyrophosphate Deposition	Calcification of cartilage, Osteoarthritis, Limitation of joint mobility, Arthritis	ORPHA:1416
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Hydrocephalus, Cleft palate	OMIM:258320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Scoliosis, Hyperlordosis	OMIM:253700
Koolen-De Vries Syndrome	Slender finger, Narrow palate, Small for gestational age, Kyphosis, Prominent fingertip pads, Fai...	OMIM:610443
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Obesity, Lethargy, Hepatomegaly, Jaundice, Overweight, Small for gestational age	ORPHA:26793
Gorlin Syndrome	Abnormal vertebral morphology, Mandibular prognathia, Carious teeth, Vertebral wedging, Cryptorch...	ORPHA:377
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph...	OMIM:617718
Glycerol Kinase Deficiency	Downturned corners of mouth, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatit...	OMIM:307030
Hydrolethalus Syndrome 2	Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocepha...	OMIM:614120
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Short neck, Deep philtrum, Thick vermilion border, Macroglossia, Kyphosis	OMIM:616455
Myofibrillar Myopathy 10	Mandibular prognathia, Flexion contracture of finger, Kyphosis, Sandal gap	OMIM:619040
Doors Syndrome	Short lingual frenulum, Adrenal hyperplasia, Open mouth, Aplasia/Hypoplasia of the phalanges of t...	ORPHA:79500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Tapered finger, Short humerus, Short femur	OMIM:618367
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis...	OMIM:223370
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Shallow acetabular fossae, Irregular carpal bones, Spondylolisthesis, Carp...	OMIM:252600
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Hypoplasia of the zygomati...	ORPHA:958
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t...	OMIM:311200
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone ossification, ...	OMIM:618162
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Orofacial cleft, Deep philtrum, Incomplete cleft of the upper lip, Kyphosis	ORPHA:77300
Weaver Syndrome	Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplastic iliac wing, Overlapping toe,...	OMIM:277590
Gaucher Disease, Type Iiic	Hepatomegaly, Hydrocephalus, Pancytopenia, Splenomegaly	OMIM:231005
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d...	OMIM:613686
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod...	ORPHA:3378
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Hydrocephalus, Postaxial hand polydactyly	ORPHA:83473
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Pancytope...	OMIM:615688
Alstrom Syndrome	Abnormality of the dentition, Insulin-resistant diabetes mellitus, Decreased response to growth h...	OMIM:203800
Andersen-Tawil Syndrome	Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Dental crowding, Hyperaldost...	ORPHA:37553
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Increased CSF protein concentration, Granuloma, CSF lymphocytic p...	ORPHA:68
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Wide mouth, Hydrocephalus	OMIM:616521
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Failure to thrive, Micrognathia, Hip contracture, Ky...	ORPHA:2020
Neuroblastoma	Elevated circulating catecholamine level, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:635
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Natal tooth, Sandal gap, Preaxial polydactyly, Thick upper lip vermilion, Fibul...	OMIM:612651
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Arachnodactyly, Hydrocephalus, Camptodactyly, High palate, Dan...	OMIM:614846
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Congenital finger flexion contractures, High palate, Absent phalang...	OMIM:108145
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Cleft lip, Annular pancreas, Furrowed tongue, Lumbar hyperlordosis, Micrognathi...	OMIM:616975
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Scoliosis, Failure to thrive	OMIM:201470
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Cryptorchidism, Arachnodactyly, Slender toe, Hydrocephalus, High palate, Dan...	OMIM:310400
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Lymphadenopathy, Thromboc...	ORPHA:93552
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Cryptorchidism, Frontal encephalocele	ORPHA:261102
Marinesco-Sjogren Syndrome	Failure to thrive, Short metacarpal, Hypergonadotropic hypogonadism, Short metatarsal, Scoliosis,...	OMIM:248800
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Weight loss, Abnor...	ORPHA:668
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Short thumb, Short toe, Polysplenia, Micrognathia, 2-3 toe sy...	OMIM:164280
Pettigrew Syndrome	Ventriculomegaly, Wide mouth, Hydrocephalus, Calvarial osteosclerosis, Thick vermilion border, Aq...	OMIM:304340
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Orofacial cleft, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Gapo Syndrome	High, narrow palate, Ventriculomegaly, Eruption failure, Long philtrum, Thick lower lip vermilion...	OMIM:230740
Campomelic Dysplasia	Small abnormally formed scapulae, Ventriculomegaly, Kyphosis, Femoral bowing, Micrognathia, Tibia...	ORPHA:140
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,...	OMIM:619322
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Recurrent sinusitis, Neutropenia, B lymphocytopenia, Anemia, Enteroviral h...	OMIM:300755
Infantile Liver Failure Syndrome 2	Jaundice, Lethargy	OMIM:616483
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Abdominal situs inversus, M...	ORPHA:2062
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:237300
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Clinodactyly of t...	ORPHA:73223
Maple Syrup Urine Disease, Type Ia	Lethargy, Pancreatitis	OMIM:248600
Isolated Complex I Deficiency	Failure to thrive, Increased CSF lactate, Lethargy, Hepatomegaly, Diabetes mellitus	ORPHA:2609
Ullrich Congenital Muscular Dystrophy 1A	Hip dislocation, Failure to thrive, Slender build, Increased laxity of fingers, High palate, Scol...	OMIM:254090
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Osteopenia, Failure to thrive, Dilated fourth ventricle, Hepatic steatosis, Thi...	OMIM:212065
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Mend Syndrome	Microretrognathia, Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Microgn...	OMIM:300960
Atelis Syndrome 2	Clinodactyly, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Elevated circulat...	OMIM:620185
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat...	ORPHA:171
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive	ORPHA:2089
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Lethargy, Hepatic steatosis	OMIM:201450
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation...	ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Scoliosis, Kyphosis	OMIM:300861
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed puberty, Delayed eruption of teeth	ORPHA:1816
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Neutr...	OMIM:260920
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Ventriculomegaly, Sandal gap, Failure to thrive, Camptodactyly of finger, Super...	ORPHA:261349
Bruck Syndrome	Platyspondyly, Bowing of the long bones, Osteoporosis, Scoliosis, Kyphosis	ORPHA:2771
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Advanced eruption of t...	OMIM:262190
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Increased circulating ACTH level, Chronic noninfectious lymphadenopath...	ORPHA:100075
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Cheilitis	ORPHA:293173
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Micrognathia, Cryptorchidism, Arachnodactyly, High palate, Long...	ORPHA:536532
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Slender build, Lumbar hyperlordosis, Large for gestational age, Communicating h...	ORPHA:457359
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Open mouth, Metatarsus valgus, Short philtrum, Hypothyroidism, Everted ...	ORPHA:2479
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Abnormality of the dentition, Ventriculomegaly, Natal tooth, Failure to thriv...	ORPHA:261652
Rat-Bite Fever	Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Anemia, Back pain	ORPHA:31205
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Cryptorchidism, Su...	ORPHA:2189
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scol...	ORPHA:1883
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Oral ulcer, Perianal a...	OMIM:301074
Beta-Ketothiolase Deficiency	Leukocytosis, Weight loss, Apathy, Thrombocytosis, Hepatomegaly	ORPHA:134
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Cryptorchidism, Orofacial cl...	ORPHA:3301
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Broad phalanx, Short metacarpal, Calcification of cartilage, Knee flexion contr...	OMIM:271665
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Bone cyst, Generalized lymphadenopathy, Wei...	OMIM:181000
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Postaxial hand polydactyly, Dandy-Wal...	OMIM:220220
Craniotelencephalic Dysplasia	Craniosynostosis, Hydrocephalus, Frontal encephalocele	ORPHA:1528
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Dislocated radial head, Hydrocephalus, High palate	OMIM:304100
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death...	OMIM:314390
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Thoracic scoliosis, Postaxial polydactyly, Hydrocephalus, Kyphosis	OMIM:603387
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu...	ORPHA:100080
Frank-Ter Haar Syndrome	Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Prominent coccy...	OMIM:249420
Tetraamelia Syndrome 1	Cleft upper lip, Micrognathia, Hypoplastic pelvis, Adrenal gland agenesis, Hydrocephalus, Aspleni...	OMIM:273395
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Fucosidosis	Abnormality of the dentition, Failure to thrive, Abnormality of the gallbladder, Hepatomegaly, Hy...	ORPHA:349
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Finger syndactyly, Micrognathia, Encephalocele, Anencephaly, Aplasia/Hypoplasi...	ORPHA:1908
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Neonatal death	OMIM:618232
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Micrognathia, Absent uvula, Kyphosis	OMIM:619708
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Failure of eruption of permanent teeth, Failure to thrive, Finger ...	ORPHA:2896
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Failure to thrive, Hand polydactyly, Hydroce...	ORPHA:60040
Systemic Lupus Erythematosus	Depression, Leukopenia, Oral ulcer, Weight loss, Abnormal pigmentation of the oral mucosa, Lympha...	ORPHA:536
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Open mouth, Protruding tongue, Decreased body weight,...	ORPHA:258
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Radiou...	OMIM:154400
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Open bite, Ankyloglos...	ORPHA:1507
Becker Nevus Syndrome	Supernumerary nipple, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Scoliosis, Kyphosis	ORPHA:3454
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Cryptorchidism, Arachnodactyly, Short hallux, Downtu...	ORPHA:280
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Abnormal circulating aldoste...	ORPHA:171876
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Sandal gap, Hypoplasia of the zygomatic bone, Supernumerary nipple, Retrognathi...	ORPHA:1812
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Down-sl...	ORPHA:392
Cap Myopathy	Lumbar hyperlordosis, High palate, Thoracic scoliosis	ORPHA:171881
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Solitary median maxillary central incisor, Asplenia, High palate, Toe syndactyly	OMIM:619657
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level...	ORPHA:97287
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism, Microdontia, Hypog...	OMIM:619718
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Finger syndactyly, ...	ORPHA:1647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hyperlordosis, Hip dysplasia, Hepatomegaly, Scoliosis	OMIM:615356
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Increased bone mineral density, Short humerus, Lateral femoral bow...	OMIM:239000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Lethargy, Failure to thrive	ORPHA:395
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Lethargy, Hepatic steatosis	OMIM:212138
Oculopharyngodistal Myopathy	High, narrow palate, High palate, Weight loss	ORPHA:98897
Bethlem Muscular Dystrophy	Interphalangeal joint contracture of finger, Camptodactyly of finger, Lumbar hyperlordosis, Curve...	ORPHA:610
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philtrum, Micrognathia, ...	OMIM:145420
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermilion, Hepatomegaly, Acute lymphob...	OMIM:280000
Erdheim-Chester Disease	Abnormal epiphysis morphology, Hypogonadotropic hypogonadism, Weight loss, Anemia, Increased bone...	ORPHA:35687
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Retrognathia, Lateral ventricular asymmetry, Arachnodactyly, Hydrocephalus, ...	OMIM:616914
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypoplasia of the zygomatic bone, Tooth agenesis, Narrow mouth, Cryptorchidism, Malar flattening,...	ORPHA:1555
1Q44 Microdeletion Syndrome	Ventriculomegaly, Micrognathia, Exaggerated cupid's bow, Smooth philtrum, Hydrocephalus, Thin ver...	ORPHA:238769
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec...	ORPHA:1946
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, 2-3 finger s...	OMIM:312870
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Failure to thrive, Short humerus, Short neck, Brac...	ORPHA:420794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Cowden Syndrome 5	Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ...	OMIM:615108
Familial Mediterranean Fever	Depression, Oral leukoplakia, Leukocytosis, Splenomegaly, Orchitis, Low back pain, Peritonitis, P...	ORPHA:342
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Depression, Decreased circulating dehydroepiandrosterone concentration, Increased cir...	OMIM:610489
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Cryptorchi...	OMIM:247200
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Joubert Syndrome	Abnormal form of the vertebral bodies, Encephalocele, Hand polydactyly, Orofacial cleft, Hydrocep...	ORPHA:475
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Hydrocephalus, Congenital hepatic fibrosis	OMIM:619111
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Encephalocele, Hand polydactyly, Orofacial cleft, Hydrocephalus, F...	ORPHA:220493
Cryptococcosis	Peritonitis, Cirrhosis, Hydrocephalus, Lymphoid leukemia, Mediastinal lymphadenopathy, Osteolysis	ORPHA:1546
Histiocytoid Cardiomyopathy	Failure to thrive, Polycystic ovaries, Lethargy, Hydrocephalus, Hepatomegaly, Cleft palate	ORPHA:137675
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Salmonella osteomyelitis	ORPHA:319552
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Failure to thrive, Large for gestational age, Cryptorchidism, Short neck, Myelofibrosis, High palate	OMIM:607721
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Aplastic clavicle, Metaphyseal cupping, Abnormal epiphysis morphology, Natal tooth...	ORPHA:50945
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Hepatomegaly, Abnormal cerebrospinal fluid morpholog...	ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 65	Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Micrognathia, Tented upper...	OMIM:619320
Muscular Dystrophy, Duchenne Type	Scoliosis, Hyperlordosis	OMIM:310200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Brachydactyly, Short palm	ORPHA:3217
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Dental malocclusion, Retrognathia, Diastema, Obesity, Micrognathia, Short lingu...	ORPHA:96121
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Downturned corners of mouth, Short toe, Cl...	OMIM:239300
Nijmegen Breakage Syndrome	Sandal gap, Cleft upper lip, Malar prominence, Micrognathia, Autoimmune hemolytic anemia, 2-3 toe...	OMIM:251260
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Hepati...	ORPHA:100085
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Recurrent sinusitis, B lymphocytopenia, Neutropenia, Rectal abscess	OMIM:601495
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
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, ...	ORPHA:85138
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Micrognathia, Absent distal phalanges, Hydrocephalus, Short middle ...	OMIM:614219
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus, Camptodactyly of finger	ORPHA:272
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Hepatic steatosis	OMIM:255120
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Failure to thrive, Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruptio...	OMIM:617865
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Elevated CSF argininosuccinic acid concentration, Lethargy, ...	OMIM:207900
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy	ORPHA:97285
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
8P23.1 Microdeletion Syndrome	Broad thumb, Obesity, Micrognathia, Cryptorchidism, Short neck, Weight loss, Thin vermilion borde...	ORPHA:251071
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Retrognathia, Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto...	OMIM:615607
Meier-Gorlin Syndrome 1	Small hand, Cutaneous finger syndactyly, Micrognathia, Genu valgum, Patellar aplasia, Aplasia/Hyp...	OMIM:224690
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Bilateral cleft palate, S...	OMIM:610829
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
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Short neck, Short 1st metacarpal...	ORPHA:264450
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Occipital Horn Syndrome	Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Abnormal fibula morphology, Short palm, Ja...	ORPHA:198
Huntington Disease	Depression, Decreased body mass index, Apathy, Weight loss, Bradykinesia	ORPHA:399
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu...	ORPHA:100082
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short neck, Syndactyly, Cleft lip, Downt...	OMIM:616894
Cowden Syndrome 6	Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ...	OMIM:615109
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4...	OMIM:275000
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Medulloblastoma	Hydrocephalus, Lethargy, Back pain	ORPHA:616
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Hypogonadotropic hypogonadism, H...	OMIM:614381
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Decreased testicular size, Genu valgum, Leukocytosis, Hepatic steato...	OMIM:619321
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abno...	ORPHA:33226
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Hydrocephalus	ORPHA:220295
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal sacroiliac joint morphology, Lymphade...	ORPHA:32960
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Abdominal situs inver...	ORPHA:2108
Trisomy 1Q	Ventriculomegaly, Toe syndactyly, Microretrognathia, Camptodactyly of finger, Preaxial hand polyd...	ORPHA:261344
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Osteopenia, Failure to thrive, Camptodactyly of finger, Slender build, Intraute...	ORPHA:3455
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Hypoplasia of the maxilla, Progressive ventriculomegaly, Absent thumb, Slender long ...	ORPHA:500150
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Hydrocephalus	OMIM:612247
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Obesity, Cryptorchidism	OMIM:601794
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl...	OMIM:166200
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Carious teeth, Microretrognathia, Slender long bone, Fail...	OMIM:278250
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Decreased body weight, ...	OMIM:261540
Fliedner-Zweier Syndrome	Long philtrum, Obesity, Hallux valgus, Meningocele, High palate, Scoliosis, Kyphosis	OMIM:620511
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Postencephalitic Parkinsonism	Abnormal CSF protein concentration, Depression, Open mouth, CSF lymphocytic pleiocytosis, Camptoc...	ORPHA:97349
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Femoral...	OMIM:207410
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:2298
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss, Hepatomegaly, Mediastinal lymphadenopathy, Clubbing	ORPHA:79128
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Failure to thrive, Long philtrum, Mi...	OMIM:619512
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Hyperlordosis, Osteoporosis, Hepatomegaly, Macroglossia, Scoliosis	ORPHA:365
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Retrognathia, Micrognathia, Cryptor...	ORPHA:3412
Isaacs Syndrome	Weight loss	ORPHA:84142
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Tented upper lip vermilion,...	OMIM:619244
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Failure to thrive	OMIM:256700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Absent gallbladder, Cryptorchidism, 2-3...	ORPHA:163979
Microphthalmia, Syndromic 2	Cryptorchidism, Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body ...	OMIM:300166
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger, Abnormal...	ORPHA:1005
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Hypogonadotropic hypogonadism, Delayed puberty	ORPHA:447896
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Cryptorchidism, Short neck, Abnormal meta...	OMIM:268300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Failure to thrive, Long philtrum, Congenital hypothyroidism, Micrognathia, Tent...	OMIM:617527
Mucopolysaccharidosis Type 2	Temporomandibular joint ankylosis, Thick vermilion border, Gingival overgrowth, Splenomegaly, Abn...	ORPHA:580
Joubert Syndrome With Renal Defect	Encephalocele, Hand polydactyly, Orofacial cleft, Hydrocephalus, Scoliosis, Abnormality of the hy...	ORPHA:220497
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Cryptorchidism, Encephalocele, ...	OMIM:264480
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:36412
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Citrullinemia, Classic	Hepatomegaly, Lethargy, Cirrhosis, Failure to thrive	OMIM:215700
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Micrognathia, Lower...	OMIM:300867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Hydrocephalus	OMIM:613155
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Weight loss, Leu...	ORPHA:99867
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Small hand, Widely spaced teeth, Micrognathia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Wa...	ORPHA:459061
Cardiofaciocutaneous Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Failure to thrive in infancy, Genu valgum, Crypt...	ORPHA:1340
Short Syndrome	Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma...	ORPHA:3163
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Plaa-Associated Neurodevelopmental Disorder	Ventriculomegaly, Postaxial foot polydactyly, Failure to thrive, Long philtrum, Micrognathia, Ten...	ORPHA:521426
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Obesity, Narrow mouth, Kyphosis	ORPHA:261222
Branchiooculofacial Syndrome	Abnormality of the dentition, Short thumb, Cleft upper lip, Preaxial hand polydactyly, Supernumer...	OMIM:113620
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Biconcave vertebral bodies, Abdomin...	OMIM:219090
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Lethargy, Abnormal erythrocyte ...	ORPHA:447
Chédiak-Higashi Syndrome	Gingival bleeding, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnorma...	ORPHA:167
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Hypothyroidism, Diabetes mellitus	ORPHA:3198
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
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
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Decreased response to growth hormone stimulation test, Absent circulating ...	OMIM:307200
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Cryptorchidism, Protruding tongue, Neonatal death, Everted lower lip ...	OMIM:612289
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Microdontia, Short sternum, Postaxial ha...	OMIM:258850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventriculomegaly, Cleft lip, Annular pancreas, Retrognathia, Micrognathia, Butterfly vertebrae, N...	OMIM:265380
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Pyomyositis	Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Aymé-Gripp Syndrome	Ventriculomegaly, Long philtrum, Breast hypoplasia, Narrow mouth, Cryptorchidism, Oligodontia, Th...	ORPHA:1272
Atypical Rett Syndrome	Small hand, Short foot, Scoliosis, Kyphosis	ORPHA:3095
Perry Syndrome	Apathy, Depression, Weight loss	ORPHA:178509
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Abno...	ORPHA:2238
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Meckel Syndrome, Type 6	Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Absent ga...	OMIM:612284
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Malar flatten...	ORPHA:93259
Keutel Syndrome	Short distal phalanx of finger, Calcification of cartilage	ORPHA:85202
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Malar flattening, Cryptorchidism	OMIM:218350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Absent nipple, Hydrocephalus, Hemivertebrae, High palate, Scoliosis, ...	OMIM:104350
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Retrognathia, Furrowed tongue, Tented upper lip vermilion, 2-3 toe syndactyly, ...	OMIM:616449
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Carious teeth, Failure to thrive, Delayed eruption of tee...	ORPHA:2834
Solitary Fibrous Tumor	Hypophosphatemic rickets, Low back pain, Neoplasm of the liver, Weight loss, Abnormal peritoneum ...	ORPHA:2126
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping fingers, Micrognathia, Cutaneous syn...	OMIM:617822
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Hydrocephalus, Short philt...	OMIM:613603
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy	OMIM:229700
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:542323
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Hypoplasia of the thymus, Adrenocortical a...	ORPHA:3384
Marden-Walker Syndrome	Bifid uvula, Abnormal form of the vertebral bodies, Failure to thrive, Camptodactyly of finger, R...	ORPHA:2461
Ménétrier Disease	Weight loss, Hypochromic microcytic anemia	ORPHA:2494
Giant Cell Arteritis	Depression, Weight loss, Glossitis, Diabetes insipidus, Mediastinal lymphadenopathy	ORPHA:397
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat...	OMIM:615846
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto...	ORPHA:3472
Moderate Hemophilia A	Limitation of joint mobility, Hip contracture, Synovitis, Cartilage destruction, Joint hemorrhage	ORPHA:169805
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Cholecyst...	ORPHA:100086
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Oligodontia, Hypoplastic sweat glands, Hypodontia	OMIM:601345
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Lethargy	ORPHA:159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613153
Neurofibromatosis Type 1	Precocious puberty, Chronic myelogenous leukemia, Osteopenia, Kyphosis, Slender long bone, Abnorm...	ORPHA:636
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pelvic girdle bone morphology, Failure to thrive, Postnatal growth retardati...	OMIM:302960
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Orofacial cleft, Femoral retroversion, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Arachnoid Cyst	Depression, Enlarged fossa interpeduncularis, Sciatica, Diminished motivation, Self-neglect, Ence...	ORPHA:2356
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly	ORPHA:77298
1P36 Deletion Syndrome	Abnormality of the spleen, Narrow mouth, Cryptorchidism, Hepatic steatosis, Foot polydactyly, Sho...	ORPHA:1606
Familial Hypoaldosteronism	Failure to thrive, Adrenal insufficiency, Decreased circulating aldosterone level, Lethargy, Incr...	ORPHA:427
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Genu valgum, Micrognathia, Hepatic steatosis, Type II diabetes mellitus, Short ...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Hepatic steatosis, Type II diabetes mellitus, Short ...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Hepatic steatosis, Type II diabetes mellitus, Short ...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Genu valgum, Micrognathia, Hepatic steatosis, Type II diabetes mellitus, Short ...	ORPHA:881
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Joubert Syndrome 14	Open mouth, Malar flattening, Tented upper lip vermilion, Encephalocele, Postaxial polydactyly, H...	OMIM:614424
Focal Dermal Hypoplasia	Toe syndactyly, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Short metacarpal, Myelome...	OMIM:305600
Genitopatellar Syndrome	Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Micrognathia, Patellar aplasia, Hip c...	ORPHA:85201
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Cryptorchidism, Microdontia, Hypodontia, Everted lower lip vermilion, ...	OMIM:601499
Vipoma	Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ...	ORPHA:97282
Hirschsprung Disease	Failure to thrive in infancy, Weight loss, Neoplasm of the thyroid gland, Adducted thumb	ORPHA:388
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Clinodactyly, Retrognathia, Spinal canal stenosis, Micrognathi...	ORPHA:1724
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hand polydactyly, Hydrocephalus, Foot polydactyly, Scoliosis, Abnormality of the h...	ORPHA:2318
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Kyphosis	ORPHA:500180
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Abnormal vertebral morphology, Scoliosis, Abnormali...	OMIM:147920
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Rabson-Mendenhall Syndrome	Precocious puberty, Abnormality of the dentition, Increased circulating androgen concentration, D...	ORPHA:769
Ileal Neuroendocrine Tumor	Increased serum serotonin, Iron deficiency anemia, Weight loss, Lymphadenopathy, Small intestine ...	ORPHA:100078
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Scoliosis, Hydrocephalus	OMIM:617542
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Neutropenia, Small for g...	OMIM:617799
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Reduced bone...	OMIM:166220
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Depression, Adducted thumb	ORPHA:275543
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Macroglossia, Failure to thrive, Delayed eruption of teeth, Thick lower lip ...	ORPHA:369950
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Obesity, Genu valgum, Hip contracture, Thick vermilion border, Finger join...	OMIM:618493
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Ventriculomegaly, Natal tooth, Overlapping toe, Gingival overgrowth, ...	OMIM:123790
Marfanoid Habitus With Situs Inversus	Arachnodactyly, Scoliosis, Mandibular prognathia, Kyphosis, Hyperextensibility of the finger joints	OMIM:609008
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Macroglossia, Broad distal phalanx of finger, Retrognathia, Prominent crus of helix, Hypoplasia o...	OMIM:619194
Coffin-Siris Syndrome	Short 5th finger, Clinodactyly, Delayed eruption of teeth, Thick lower lip vermilion, Wide mouth,...	ORPHA:1465
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis...	OMIM:306400
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Nephronophthisis 18	Cholestasis, Portal fibrosis, Hydrocephalus	OMIM:615862
Complete Atrioventricular Septal Defect	Hepatomegaly, Lethargy, Failure to thrive	ORPHA:1329
Adnp Syndrome	Ventriculomegaly, Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Cryptorchidis...	ORPHA:404448
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Cholestasis, Microvesicular hepatic steatosis, Lethargy, Cirrhosis, Jaundice	OMIM:617156
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ...	ORPHA:97283
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Sandal gap, Prominent fingertip pads, Long philtrum, Lateral ven...	OMIM:612863
Zttk Syndrome	Bifid uvula, Small hand, Hypoplasia of the maxilla, Abnormality of the dentition, Failure to thri...	OMIM:617140
Pemphigus Vulgaris	Depression, Erosion of oral mucosa, Oral mucosal blisters, Weight loss, Recurrent cutaneous absce...	ORPHA:704
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Osteopenia, Ventriculomegaly, Microretrognathia, Long philtrum, Prominent pr...	OMIM:300966
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Toe syndactyly, Branchial fistula, Long philtrum, Camptodactyly of finger,...	ORPHA:261337
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Smooth philtrum, Short philtrum, Scoliosis, Kyphosis...	ORPHA:261190
Opitz Gbbb Syndrome	Ventriculomegaly, Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Cryptorchid...	ORPHA:2745
Al Amyloidosis	Howell-Jolly bodies, Abnormality of the liver, Hepatomegaly, Weight loss, Anemia, Macroglossia, A...	ORPHA:85443
Glossopharyngeal Neuralgia	Depression, Abnormal palate morphology, Abnormality of the cervical spine, Weight loss, Mandibula...	ORPHA:221098
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis, Lymphadenopathy	ORPHA:2483
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Genu valgum, Micrognathia, Kyphoscoliosis, Thoracic sco...	ORPHA:300570
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Slender long bone, Long philtrum, Camptodactyly of finger, Micrognathia, Nar...	OMIM:208150
Hydrolethalus Syndrome 1	Accessory spleen, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Me...	OMIM:236680
Barber-Say Syndrome	Hypoplasia of the maxilla, Absent nipple, Dental malocclusion, Velopharyngeal insufficiency, Dela...	OMIM:209885
Aspartylglucosaminuria	Platyspondyly, Macroglossia, Spondylolysis, Thick lower lip vermilion, Wide mouth, Spondylolisthe...	OMIM:208400
Alkaptonuria	Calcification of cartilage, Hemolytic anemia, Joint stiffness, Increased susceptibility to fractu...	ORPHA:56
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth, Sagittal craniosynostosis, Dandy-Walker malformation	OMIM:616901
Rabin-Pappas Syndrome	Retrognathia, Failure to thrive in infancy, Obesity, Micrognathia, Malar flattening, Hydrocephalu...	OMIM:620155
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis	ORPHA:85193
Chromosome Xq26.3 Duplication Syndrome	Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci...	OMIM:300942
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th...	ORPHA:2636
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Narrow mouth, Thin upper lip vermilion, Brachydactyly, Absent fourth finger di...	OMIM:618050
Charge Syndrome	Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Aqueductal stenosis, Holoprosencephaly, ...	ORPHA:138
Walker-Warburg Syndrome	Bifid uvula, Ventriculomegaly, Metatarsus valgus, Submucous cleft hard palate, Cryptorchidism, Hy...	ORPHA:899
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Smooth philtrum, Everted lower lip vermilion, Macroglossia, Scoliosis...	ORPHA:261144
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,...	OMIM:602200
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:231670
Jaberi-Elahi Syndrome	Failure to thrive, Triangular mouth, Scoliosis, Kyphosis, Dandy-Walker malformation	OMIM:617988
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Lethargy, Hepatitis, Failure to thrive	ORPHA:415
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:85199
Cystinosis, Nephropathic	Male hypogonadism, Rickets, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thri...	OMIM:219800
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Hy...	ORPHA:672
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97261
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Dental crowding, Testicular atrophy, Thick lower lip vermilion, ...	ORPHA:3063
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Oromandibular Dystonia	Depression, Abnormality of the temporomandibular joint, Abnormal lip morphology, Abnormal mandibl...	ORPHA:93958
47,Xyy Syndrome	Finger clinodactyly, Malar flattening, Cryptorchidism, Increased serum testosterone level, Hydroc...	ORPHA:8
Rhombencephalosynapsis	Ventriculomegaly, Microretrognathia, Finger syndactyly, Narrow mouth, Polydactyly, Hydrocephalus,...	ORPHA:59315
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Os...	ORPHA:309031
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy	OMIM:607483
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c...	OMIM:613239
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Deep philtrum, Hydroce...	OMIM:614969
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Decreased CSF homovanillic acid concentration	OMIM:608643
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Recurrent aphthous stomatitis, Peritonitis, Lymphadenopathy	ORPHA:343
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Cerebrooculonasal Syndrome	Narrow palate, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Malar flattening, En...	OMIM:605627
Peho Syndrome	Ventriculomegaly, Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Malar flattenin...	ORPHA:2836
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive	OMIM:210210
Trichinellosis	Lethargy, Apathy, Abnormal cerebrospinal fluid morphology, Trismus	ORPHA:863
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Failure to thrive, Angular cheilitis, Advanced eruption of teeth	ORPHA:2309
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Orchitis, Vaginal hydrocel...	ORPHA:2035
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss, Sinusitis	ORPHA:183
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Lateral ventricle dilatation, Long hallux, Genu valgum, Open mouth, Cryptorchi...	ORPHA:261537
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Anemia, Mediasti...	ORPHA:139411
Desmosterolosis	Ventriculomegaly, Failure to thrive, Micrognathia, Alveolar ridge overgrowth, Generalized osteosc...	OMIM:602398
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Genu valgum, Hepatic steatosis, Decreased body weight, Jaundice, High palate, High...	OMIM:619475
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Radioulnar synostosis, Short neck, High...	ORPHA:199
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th finger, Tape...	OMIM:609638
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Cryptorchidism, Short neck, Broad fingertip, Dislocated radial head,...	ORPHA:2044
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss, Spinal canal stenosis	ORPHA:330001
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Thin upper lip vermilion, Smooth phi...	ORPHA:522077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Syndactyly, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Syndactyly, A...	ORPHA:353277
Encephalitis Lethargica	Increased CSF protein concentration, Lethargy	ORPHA:83600
Aase-Smith Syndrome I	Slender finger, Open mouth, Hydrocephalus, Cleft palate, Dandy-Walker malformation	OMIM:147800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Finger syndactyly, Delayed eruption of teeth, Supernumerary nipple, Widely spaced ...	ORPHA:1071
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Coffin-Siris Syndrome 1	Cryptorchidism, Aplasia/Hypoplasia of the patella, Dandy-Walker malformation, High palate, Disloc...	OMIM:135900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Broad thumb, Carious teeth, Broad hallux, Failure to thrive, Dent...	ORPHA:353281
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Coffin-Lowry Syndrome	Open mouth, Decreased body weight, Everted lower lip vermilion, High palate, Short metacarpal, Hy...	OMIM:303600
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Failure to thrive, Elevated circulating thyroid-stimulatin...	OMIM:256040
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis, Oral ulcer, Sinusitis	OMIM:608710
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing cholangitis...	ORPHA:449395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Scoliosis, Hydrocephalus	OMIM:615249
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb	ORPHA:2182
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s...	OMIM:300967
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upp...	ORPHA:521445
Limb Body Wall Complex	Progressive congenital scoliosis, Cleft lip, Broad hallux, Abnormality of the vertebral column, M...	ORPHA:2369
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Mic...	OMIM:275210
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Macroglossia, Kyphosis	OMIM:151800
Choreoacanthocytosis	Depression, Temporomandibular joint crepitus, Lateral ventricle dilatation, Self-neglect, Acantho...	ORPHA:2388
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Pituitary adenoma, Eruption failure, ...	ORPHA:733
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Lethargy	OMIM:615751
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Abnormality of the endocrine s...	OMIM:129550
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Weight loss, Aphthous ulcer	OMIM:266600
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Short neck, J...	ORPHA:3310
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Biliary cirrhosis, Depression, Parotitis, Chronic active hepatiti...	ORPHA:289390
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Norrie Disease	Failure to thrive, Cryptorchidism, Malar flattening, Cachexia, Delayed puberty, Thin vermilion bo...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Cleft upper lip, Encephalocele, Hydrocephalus, Macroglossia, Scoliosis, Cleft p...	OMIM:613150
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Cutaneous abscess, Increased hepatic echogenicity, Persistence of primary teeth, Eosi...	OMIM:147060
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Cleft soft palate, Cryptorchidism, Posterior pituitary hypoplasia, Decreased respo...	ORPHA:268261
Familial Colorectal Cancer Type X	Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Weight l...	ORPHA:440437
Hutchinson-Gilford Progeria Syndrome	Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, Severe failure to thrive, Weig...	ORPHA:740
Micro Syndrome	Micrognathia, Cryptorchidism, Short philtrum, Delayed puberty, High palate, Scoliosis, Kyphosis	ORPHA:2510
Perry Syndrome	Apathy, Depression, Bradykinesia, Weight loss	OMIM:168605
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Thumb contracture	OMIM:307000
Cowden Syndrome	Follicular thyroid carcinoma, Failure to thrive, Goiter, Furrowed tongue, Neoplasm of the thyroid...	ORPHA:201
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Small for gestational age, Short toe, Failure to thrive, Cryptorchidism, Poster...	ORPHA:464311
Costello Syndrome	Ventriculomegaly, Failure to thrive, Thick lower lip vermilion, Micrognathia, Short neck, Hydroce...	OMIM:218040
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Ventriculomegaly, Preaxial polydactyly, Hamartoma of tongue, Occipital meningo...	OMIM:616546
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Toe syndactyly, Small for gestational age, Failure to thrive, Breast hypoplasia...	ORPHA:464306
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral c...	OMIM:610828
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Orofacia...	ORPHA:2166
Joubert Syndrome 2	Postaxial foot polydactyly, Enlarged fossa interpeduncularis, Failure to thrive, Encephalocele, H...	OMIM:608091
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Decreased body weight, Thin vermilion border, Scoliosis, Kyphosis	OMIM:182210
Toxic Epidermal Necrolysis	Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Teeth Present At Birth	Natal tooth	OMIM:187050
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Breast aplasia, Hypoplastic nipples, Wide mouth	ORPHA:1231
Stevens-Johnson Syndrome	Weight loss, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:36426
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Lateral ventricle dilatation, Cholestasis, Congenital hepatic fibrosis, Neonatal dea...	OMIM:619534
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Decreased body weight, Everted lower ...	ORPHA:2152
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Absence of the sacrum, Abdominal situs inversus	OMIM:270100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Dental crowding, Genu valgum, Arachnodactyly, Hepatomegaly, Osteoporosis, High palate, Scoliosis,...	ORPHA:394
Eisenmenger Syndrome	Increased mean corpuscular volume, Brain abscess, Abnormality of the liver, Lethargy, Iron defici...	ORPHA:97214
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Neutropenia	ORPHA:79430
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Hashimoto thyroiditis, Weight loss, Hydrocele testis	ORPHA:49041
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Downturned corners of mouth, Overlapping toe, Bilateral camptodactyly, ...	OMIM:619557
Somatomammotropinoma	Macrodactyly, Broad jaw, Mandibular prognathia, Depression, Pituitary adenoma, Abnormality of the...	ORPHA:314769
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Micrognathia, Hydrocephalus, Dandy-Walker malformation, Cleft ...	OMIM:225790
Cockayne Syndrome Type 3	Carious teeth, Splenomegaly, Enamel hypoplasia, Hepatomegaly, Scoliosis, Kyphosis	ORPHA:90324
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Lateral ventricle dilatation, Long hallux, Genu valgum, Open mouth, Cryptorchi...	ORPHA:261552
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Weight loss	ORPHA:95427
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Micrognathia, Natal tooth	OMIM:617802
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, P...	ORPHA:95409
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Ventriculomegaly, Finger swelling, Kyphosis, Failure to thrive, Rickets, Camptodac...	OMIM:309000
Acrofacial Dysostosis, Cincinnati Type	Median pseudocleft lip, Micrognathia, Cryptorchidism, Decreased body weight, Aqueductal stenosis,...	OMIM:616462
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Malar flattening, Short clavicles, Sagitta...	OMIM:603116
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Spinal rigidity	ORPHA:268
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,...	ORPHA:143
Primrose Syndrome	Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, High palate, Irregul...	OMIM:259050
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Lethargy	ORPHA:469
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Lateral ventricle dilatation, Failure to thrive, Delayed eruption of ...	OMIM:300952
Hydranencephaly	Atrophic pituitary gland, Lethargy, Ventriculomegaly	ORPHA:2177
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Familial Multiple Lipomatosis	Bowing of the long bones, Ventriculomegaly, Premature eruption of permanent teeth, Odontogenic ke...	ORPHA:199276
Acromegaly	Macrodactyly, Broad jaw, Mandibular prognathia, Depression, Abnormality of the dentition, Pituita...	ORPHA:963
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Anterior concav...	OMIM:216340
Meningioma	Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr...	ORPHA:2495
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Oral ulcer, Orchitis, Weight loss, Pancreatitis, Lym...	ORPHA:117
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Delayed eruption of teeth, Retrognathia, Open mouth, Short neck, Deep philt...	ORPHA:1675
Non-Functioning Paraganglioma	Weight loss, Paraganglioma, Paraganglioma of head and neck	ORPHA:94080
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97278
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:311250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly, Scoliosis, Spinal rigidity	OMIM:253800
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Thick upper lip vermilion, Tented upper lip vermilion, Open mouth, Everted lowe...	OMIM:617281
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Biotinidase Deficiency	Lethargy, Myelopathy	ORPHA:79241
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Riddle Syndrome	Chronic sinusitis, Generalized lymphadenopathy, Weight loss, Recurrent sinusitis	ORPHA:420741
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Fraser Syndrome 1	Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Cutaneous finger syndact...	OMIM:219000
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Microretrognathia, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Fructose Intolerance, Hereditary	Failure to thrive, Hepatic steatosis, Lethargy, Cirrhosis, Hepatomegaly, Jaundice	OMIM:229600
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Narrow palate, Gingival fibromatosis, Scoliosis...	OMIM:266270
Posterior Urethral Valve	Lethargy, Retrognathia	ORPHA:93110
Exercise-Induced Malignant Hyperthermia	Lethargy, Thrombocytopenia	ORPHA:466650
Congenital Tufting Enteropathy	Cholestatic liver disease, Orofacial cleft, Weight loss, Failure to thrive	ORPHA:92050
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Sacral Defect With Anterior Meningocele	Dermal sinus tract, Absence of the sacrum, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal ...	OMIM:600145
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Cryptorchidism, Mild fetal ventriculomegaly, Anterior pituitary hypo...	OMIM:619841
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Biconcave vertebral bodies, Tibial bowing, Kyphoscoliosis, Severe plat...	OMIM:259770
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Viral hepatitis	ORPHA:91139
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Clinodactyly, Micrognathia, Malar flattening, Short philtrum, High pa...	OMIM:609944
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
Chikungunya	Gingival bleeding, Periostitis, Depression, Cervical lymphadenopathy, Diminished motivation, Lymp...	ORPHA:324625
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Broad hallux, Open mouth, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, ...	ORPHA:457284
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Micrognathia, Orofacial cleft, Hydrocephalus, Foot polydactyly, Short palm	ORPHA:268249
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Cholera	Lethargy	ORPHA:173
Lymphangioleiomyomatosis	Hydrocephalus, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system	ORPHA:538
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers	ORPHA:199241
Igg4-Related Ophthalmic Disease	Abnormality of the sphenoid sinus, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anter...	ORPHA:449563
Neurofibromatosis, Type I	Pheochromocytoma, Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Parathyroid adenoma, Spina b...	OMIM:162200
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Clubbing	ORPHA:79127
Radial Aplasia, X-Linked	Hydrocephalus, Absent radius	OMIM:312190
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Bullous Pemphigoid	Weight loss, Diabetes mellitus, Oral mucosal blisters	ORPHA:703
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
African Trypanosomiasis	Ventriculomegaly, Myelopathy, Hepatosplenomegaly, Splenomegaly, Abnormality of circulating cortis...	ORPHA:3385
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Flexion contracture of finger, Scoliosis, Kyphosis	ORPHA:88628
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis...	ORPHA:99827
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Thakker-Donnai Syndrome	Downturned corners of mouth, Narrow mouth, Cervical C2/C3 vertebral fusion, Short neck, Hemiverte...	ORPHA:1780
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Focal Myositis	Weight loss	ORPHA:48918
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Sotos Syndrome	Abnormal vertebral morphology, Abnormality of the dentition, Ventriculomegaly, Hydrocele testis, ...	ORPHA:821
Nocardiosis	Brain abscess, Lymphadenitis, Cutaneous abscess, Peritonitis, Weight loss, Abnormality of the adr...	ORPHA:31204
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Abnormality of th...	ORPHA:97685
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Loeys-Dietz Syndrome 2	Bifid uvula, Retrognathia, Micrognathia, Spondylolisthesis, Absent distal phalanges, Malar flatte...	OMIM:610168
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ...	ORPHA:158687
Gardner Syndrome	Abnormality of the dentition, Adrenocortical adenoma, Adrenocortical carcinoma, Hepatoblastoma, M...	ORPHA:79665
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Cryptorchidism, High palate, Short foot, Short 5th finger, Obesity,...	OMIM:607872
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Short 1st metacarpal, Central hypothyroidism, Decr...	OMIM:620305
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Hy...	OMIM:619575
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Granulomatosis With Polyangiitis	Abnormal oral cavity morphology, Weight loss, Pancreatitis, Granulomatosis, Sinusitis, Diabetes i...	ORPHA:900
Peters Plus Syndrome	Toe syndactyly, Micrognathia, Cryptorchidism, Short neck, Short foot, Short toe, Thin upper lip v...	ORPHA:709
Loeys-Dietz Syndrome 1	Bifid uvula, Retrognathia, Micrognathia, Spondylolisthesis, Malar flattening, Arachnodactyly, Pos...	OMIM:609192
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Micrognathia, Short hard palate, Spina bifida, Clinodactyly of...	ORPHA:1393
Polymyositis	Hepatomegaly, Weight loss	ORPHA:732
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Narrow palate, Hypoplasia of the maxilla, Coronal craniosynostosis, ...	OMIM:614188
Genitopatellar Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Micrognat...	OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Retrognathia, Encephalocele, Hydrocephalus, Adducted thumb, Dandy-Walker malfor...	OMIM:614643
Occipital Horn Syndrome	Platyspondyly, Long philtrum, Genu valgum, High palate, Short humerus, Short clavicles, Capitate-...	OMIM:304150
Knobloch Syndrome	Lymphangioma, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Scoliosis, Kyphosis	OMIM:211530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Cleft upper lip, Micrognathia, Cryptorchidism, Hydroce...	OMIM:236670
Dural Sinus Malformation	Apathy, Myelopathy, Hydrocephalus	ORPHA:97339
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Cryptorchidism, Short...	OMIM:601803
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Craniosynostosis, Communicating hydrocephalus, Micrognathia, Downturned corners of mouth	ORPHA:1064
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Ventriculomegaly, Hepatic steatosis, Hepatic calcification, Hydrocephalus, H...	ORPHA:228308
Rheumatoid Arthritis	Weight loss, Interphalangeal joint erosions, Swan neck-like deformities of the fingers	OMIM:180300
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Ciliary Dyskinesia, Primary, 43	Chronic sinusitis, Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Intellectual Developmental Disorder, X-Linked 112	Cryptorchidism, Kyphoscoliosis, Pancreatic cysts, Scoliosis, Kyphosis	OMIM:301111
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system	ORPHA:137667
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hydrocephalus, ...	ORPHA:2556
Familial Adenomatous Polyposis 1	Carious teeth, Eruption failure, Adrenocortical adenoma, Adrenocortical carcinoma, Hepatoblastoma...	OMIM:175100
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Hand polydactyly, Hydrocephalus, Macroglossia, Ovarian neoplasm	ORPHA:65285
Lynch Syndrome	Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Salivary...	ORPHA:144
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus	OMIM:615219
Plasminogen Deficiency, Type I	Ventriculomegaly, Periodontitis, Gingival overgrowth, Hydrocephalus, Gingivitis, Dandy-Walker mal...	OMIM:217090
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Restrictive Dermopathy	Osteopenia, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Micrognathia...	ORPHA:1662
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Dental crowding, Prominent fingertip pads, Clinodactyly, ...	OMIM:309800
Yao Syndrome	Weight loss, Oral ulcer	OMIM:617321
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Failure to thrive, Velopharyngeal insufficiency, Microg...	OMIM:619325
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Kufor-Rakeb Syndrome	Abnormal finger morphology, Lethargy, Bradykinesia, Apathy	ORPHA:306674
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Abnormal metaphysis morphology	ORPHA:1861
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, High palate, Scoliosis, Kyphosis	OMIM:177850
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Arthritis, Enthesitis	ORPHA:29207
Polyarteritis Nodosa	Weight loss	ORPHA:767
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Viss Syndrome	Genu valgum, Cleft soft palate, Micrognathia, Contracture of the proximal interphalangeal joint o...	OMIM:619472
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paraganglioma of head and neck, Extraadrena...	ORPHA:276621
Tuberous Sclerosis Complex	Depression, Pituitary adenoma, Pheochromocytoma, Pulmonary lymphangiomyomatosis, Hepatic cysts, S...	ORPHA:805
Blau Syndrome	Camptodactyly of finger, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnorma...	ORPHA:90340
Holoprosencephaly 14	Ventriculomegaly, Cleft lip, Alobar holoprosencephaly, Median cleft upper lip, Hydrocephalus, Dan...	OMIM:619895
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Downturne...	ORPHA:99885
Fraser Syndrome 3	Short toe, Micrognathia, Cutaneous syndactyly, Hydrocephalus, Stillbirth	OMIM:617667
Cap Polyposis	Weight loss	ORPHA:160148
Gerstmann-Straussler Disease	Depression, Bradykinesia, Weight loss	OMIM:137440
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Sturge-Weber Syndrome	Gingival overgrowth, Hyperostosis, Hydrocephalus	ORPHA:3205
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Long philtrum, Cryptorchidism, Advanced eruption of teeth, Orofacia...	ORPHA:1519
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Hepatic calcification	ORPHA:157
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cryptorchidism, Dandy-Walker malformation	OMIM:613001
Liposarcoma	Weight loss	ORPHA:69078
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate	OMIM:243440
Acrodermatitis Enteropathica	Failure to thrive, Furrowed tongue, Weight loss, Glossitis, Cheilitis	ORPHA:37
Townes-Brocks Syndrome 1	Broad thumb, Small for gestational age, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepip...	OMIM:107480
Enamel-Renal Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Yellow-brown discolorati...	ORPHA:1031
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia...	ORPHA:64
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Arachnoiditis	Hydrocephalus	ORPHA:137817
Hereditary Late-Onset Parkinson Disease	Apathy, Depression, Bradykinesia, Weight loss	ORPHA:411602
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ...	ORPHA:2273
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus	OMIM:219730
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Pulmonary Alveolar Microlithiasis	Stippled calcification in carpal bones, Weight loss, Hepatomegaly, Testicular microlithiasis, Clu...	ORPHA:60025
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paraganglioma of head and neck, Elevated ci...	ORPHA:29072
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Scoliosis, Kyphosis	OMIM:613454
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Cryptorchidism, Hydrocephalu...	OMIM:258040
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Hypogonadism, Cryptorchid...	ORPHA:2250
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate	ORPHA:2736
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Fatal Familial Insomnia	Weight loss	OMIM:600072
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ...	ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Abnormal circulating dehydroepiandrosterone concentration, Inc...	ORPHA:90794
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Depression, Weight loss	OMIM:607459
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss, Clubbing	ORPHA:747
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Acquired Central Diabetes Insipidus	Weight loss, Diabetes insipidus	ORPHA:95626
Pineoblastoma	Pinealoma, Lethargy	ORPHA:251909
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Kyphosis, Cleft palate	OMIM:153400
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Isotretinoin-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate	ORPHA:2306
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:509
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of the maxilla, Occipital encephalocele, Cleft upper lip, Genu valgum...	OMIM:164210
Scalp-Ear-Nipple Syndrome	Breast aplasia, Abnormality of the dentition, Type I diabetes mellitus, Delayed eruption of teeth	ORPHA:2036
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Gingival overgrowth, Hydrocephalus, Gingivitis, Dandy-Wa...	ORPHA:722
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Thyrotoxic Periodic Paralysis	Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Thyrot...	ORPHA:79102
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Glycine Encephalopathy	Lethargy	ORPHA:407
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Weight loss, Normochromic anemia	ORPHA:91500
Postinfectious Vasculitis	Weight loss, Viral hepatitis, Orchitis	ORPHA:48435
Chronic Graft Versus Host Disease	Pancytopenia, Weight loss	ORPHA:99921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Hydrocephalus, Communicatin...	OMIM:615287
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Hydrocephalus, Cleft palate	OMIM:309801
Mowat-Wilson Syndrome	Tooth malposition, Ventriculomegaly, Delayed eruption of teeth, Supernumerary nipple, Widely spac...	OMIM:235730
Thoracoabdominal Syndrome	Cleft palate, Hydrocephalus, Cleft upper lip, Anencephaly	OMIM:313850
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hydrocephalus	OMIM:261740
Carney-Stratakis Syndrome	Weight loss, Paraganglioma	ORPHA:97286
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	OMIM:175780
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Oculopharyngodistal Myopathy 1	High palate, Weight loss	OMIM:164310
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Micrognathia, Malar flattening, Hydrocephalus, Everted lower lip vermilion	OMIM:253280
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Primary Fanconi Renotubular Syndrome	Weight loss, Hypophosphatemic rickets, Osteomalacia	ORPHA:3337
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Exstrophy-Epispadias Complex	Hydrocephalus, Cryptorchidism, Spina bifida	ORPHA:322

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 Col10a1

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 Col10a1.

No publications found that use IMPC mice or data for Col10a1.

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
Col10a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Col10a1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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