Not currently registered for phenotyping at IMPC

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

Gene Summary

collagen, type X, alpha 1
Col10,  Col10a-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500

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

Disease Similarity of
Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Upington Disease
Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip OMIM:191520
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Abnormal long bone morphology, Growth delay, Abnormal pelvic girdle bone morphology, S... OMIM:259270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... ORPHA:2501
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... ORPHA:1133
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... OMIM:184255
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... OMIM:250460
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypo... OMIM:602361
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ... OMIM:609325
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Thrombocytopenia, Radial ... OMIM:617053
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Failure to thrive sec... OMIM:608971
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co... ORPHA:1328
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly OMIM:616622
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... OMIM:609052
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Ck Syndrome
Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Abnormal digit morphology, High palate, S... OMIM:300831
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomega... ORPHA:77297
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal form of the vertebra... ORPHA:93941
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Dental malocc... ORPHA:2471
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Gingival overgrowt... OMIM:269920
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... ORPHA:763
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... ORPHA:824
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Hypoplastic spleen, Rocker bottom foot, Adducted thumb ORPHA:89844
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Abnormality of the live... ORPHA:2169
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Lethargy, Failure to thrive, Pancreatitis, Throm... ORPHA:79312
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... OMIM:166740
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Ge... OMIM:602557
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Cryptorchidism, Abnormal fibula morphology, Coxa vara, ... ORPHA:1988
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Mucolipidosis Type Iii
Craniofacial hyperostosis, Hyperlordosis, Abnormal form of the vertebral bodies, Cleft palate, Re... ORPHA:577
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Short stature, Protrusio aceta... ORPHA:99642
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Myelofibrosis, Splenomegaly, Acute myelomono... ORPHA:86843
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Femur fracture, Increased bo... OMIM:259700
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Hypogeusia, Furrowed tongue, Anemia ORPHA:2930
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... ORPHA:75233
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Avascular necrosis of t... OMIM:132400
Atelosteogenesis, Type Ii
Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia, Lumbar hyperlordosis... OMIM:256050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... OMIM:613330
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon... ORPHA:1146
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopen... ORPHA:277
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ... ORPHA:2522
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Masa Syndrome
Hyperlordosis, Kyphosis, Hydrocephalus, Ventriculomegaly, Adducted thumb OMIM:303350
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Short metacarpal, Decreased ... OMIM:216550
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... OMIM:609223
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mandibular prognathia, Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Short n... ORPHA:61
Immunodeficiency 9
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene... OMIM:612782
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve... ORPHA:98813
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... ORPHA:2370
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglos... OMIM:616354
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis ORPHA:408
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Flynn-Aird Syndrome
Cachexia, Abnormality of the thyroid gland, Kyphosis, Carious teeth, Bone cyst, Primary adrenal i... ORPHA:2047
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... OMIM:610797
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Ta... OMIM:616801
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni... OMIM:231095
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Kyphoscoliosis, Osteoporosis, Diaphyse... OMIM:614727
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis, Lethargy OMIM:602390
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Abn... ORPHA:861
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Lethargy, Anemia ORPHA:28
Congenital Toxoplasmosis
Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy, Jaundice, Hydrocephalus, Lymphadeno... ORPHA:858
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ... OMIM:617022
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy, Hypoglycorrhachia ORPHA:71277
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp... OMIM:209950
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Adenocarcinoma Of The Esophagus
Obesity, Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Gm1 Gangliosidosis
Mandibular prognathia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Gingival o... ORPHA:354
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... OMIM:615559
Familial Anetoderma
Irregular dentition, Abnormal tibia morphology, Lumbar hyperlordosis, High, narrow palate ORPHA:228277
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas... OMIM:607944
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Failure to thrive, Lethargy, Hepatomegaly OMIM:613561
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in ... OMIM:613385
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Diencephalic Syndrome
Cachexia, Hydrocephalus, Everted lower lip vermilion, Decreased body weight, Abnormality of the h... ORPHA:1672
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Proteus Syndrome
Thin bony cortex, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Spinal canal stenosis, Calva... OMIM:176920
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Obesity, Scoliosis OMIM:616756
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, ... ORPHA:353298
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype... OMIM:615761
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Neoplasm ... ORPHA:543
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,... OMIM:214110
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Methylmalonic Acidemia With Homocystinuria
Lethargy, Hydrocephalus, Failure to thrive ORPHA:26
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Hyperlordosis ORPHA:157973
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hepatomegaly, Hydrocephalus, Small hand, Scoliosis OMIM:300884
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... OMIM:610333
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Micrognathia, Abnormal foot morphology, Osteoporosis,... ORPHA:94068
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... OMIM:242900
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Slender build, Hyperlordosis ORPHA:352470
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:600081
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Recurrent si... OMIM:620282
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,... OMIM:612541
Alexander Disease Type I
Cachexia, Hydrocephalus, Failure to thrive, Scoliosis ORPHA:363717
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De... ORPHA:1830
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Ck Syndrome
Long toe, Microretrognathia, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Long fingers,... ORPHA:251383
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Hepatomegaly, Eosinophilia, Thin up... OMIM:616651
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Scoliosis, Narrow pelvis bone OMIM:602484
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... ORPHA:2310
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Abnormal distal phalanx morphology of finger, Hyperlordosis, Micro... ORPHA:1387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R... OMIM:150550
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom... OMIM:226980
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Micrognathia, High p... OMIM:600462
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... ORPHA:970
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300554
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth, Mandibular osteomyeli... ORPHA:53
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... OMIM:614450
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Spinal canal stenosis, Abnorma... ORPHA:429
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Increased intervertebral space, T lymphocytopenia, Narrow greater sciatic notch, Ab... ORPHA:508533
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal zygomati... ORPHA:2511
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... OMIM:201000
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Aplasia of... OMIM:102700
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Bipolar affective disorder, Tapered finger, Kyphosis, Obesity, Depression, Oligodontia, Everted l... ORPHA:276630
Congenital Myopathy 16
Lumbar hyperlordosis, Micrognathia, Spinal rigidity, High palate, Scoliosis, Narrow mouth OMIM:618524
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Hyperlordosis, Pierre-Robin sequence, Small hand, Cleft palate, Thi... OMIM:619980
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus, Depression, Hyp... ORPHA:3452
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary ... OMIM:234250
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Anemia, Hyperlordosis ORPHA:1192
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Renpenning Syndrome
Mandibular prognathia, Diabetes mellitus, Macrodontia, Cachexia, Abnormal thumb morphology, High,... ORPHA:3242
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... ORPHA:2639
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, I... OMIM:616817
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... ORPHA:507
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia OMIM:243500
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Micrognathia, Meta... OMIM:255800
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic... ORPHA:465508
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... ORPHA:298
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... ORPHA:100083
Nemaline Myopathy 5C, Autosomal Dominant
High palate, Slender build, Scoliosis, Hyperlordosis OMIM:620389
Pseudodiastrophic Dysplasia
Smooth philtrum, Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Micrognathia, Hypoplas... OMIM:264180
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Lethargy, Failure to thrive, Megaloblastic anemia OMIM:236270
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Hip dysplasia, Scoliosis OMIM:615290
Three M Syndrome 1
Mandibular prognathia, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral ... OMIM:273750
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hip dysplasia, Hyperlordosis ORPHA:363454
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Anemia, Long philtrum ORPHA:2598
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Obesity, Cone-shaped epiph... OMIM:615630
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Abnormal oral cavity morphology ORPHA:42642
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Down-sloping shoulders... ORPHA:85293
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Hyperinsuline... ORPHA:3085
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia OMIM:619302
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... OMIM:619489
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, High palate, Scoliosis,... OMIM:147060
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy... OMIM:618495
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... ORPHA:175
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec... OMIM:618048
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Osteolysis, Downturned corners of mouth, Slender... ORPHA:2774
Propionic Acidemia
Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Neutropenia, Lethargy, Failure to thrive, Pancr... OMIM:606054
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, High palate, Scoliosis, Retrognathia, Slender build OMIM:161800
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyp... OMIM:615222
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Cervical platyspondyly, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis,... OMIM:230000
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis,... ORPHA:582
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Odontochondrodysplasia 1
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteoporosis, Flat a... OMIM:184260
Winchester Syndrome
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... OMIM:277950
Caspase 8 Deficiency
Splenomegaly, Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Obesity, Pseudohypopar... OMIM:612463
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo... OMIM:616007
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, High palate, Clinodactyly OMIM:610313
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Mild fetal ventriculomegaly, Neonatal death, Lethargy, Brachydactyly OMIM:610498
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia ORPHA:289916
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Arachnodactyly, Cachexia, ... ORPHA:371364
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... OMIM:618392
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... OMIM:156530
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Lethargy, Pancreatitis, Thrombocytopenia ORPHA:27
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Hype... ORPHA:1798
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, S... OMIM:602080
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Thic... ORPHA:583
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis,... OMIM:612350
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi... OMIM:169400
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Short neck, Abnormal soft palate m... ORPHA:884
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, High palate, Scoliosis OMIM:611225
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hepatic steatosis ORPHA:26792
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Tapered finger, Kyphosis, Micrognath... ORPHA:536516
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Normochromic anemia, Neutropenia, Lethargy, Failure to thrive, Thro... OMIM:614857
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation, Micrognathia ORPHA:1538
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Hepatomegaly, Lumbar hyperl... OMIM:253200
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thoracolumbar scoliosis, Hyper... OMIM:618019
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... OMIM:609981
Schwartz-Jampel Syndrome
Short neck, Micrognathia, Coxa vara, High palate, Long philtrum, Pursed lips, Abnormally ossified... ORPHA:800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Increased CSF lactate, Failure to thrive, Cachexia, Weight loss OMIM:612075
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Thick ... OMIM:619451
Three M Syndrome 2
Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short ... OMIM:612921
Wilson Disease
Back pain, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Increased body weight, Hepatit... ORPHA:905
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Mulchandani-Bhoj-Conlin Syndrome
Hyperlordosis, 2-3 toe syndactyly, Retrognathia, Scoliosis, Clinodactyly, Failure to thrive OMIM:617352
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa va... OMIM:214150
Hypoglossia With Situs Inversus
Micrognathia, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia OMIM:612776
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Increased serum serotonin, Congenital bilateral hip dislocation ORPHA:85288
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal ... OMIM:190350
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Reduced bone mineral density, Acute leukemia, Abnormal epiphysis morpho... ORPHA:2770
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Christianson Syndrome
Mandibular prognathia, Ventriculomegaly, Cachexia, Adducted thumb ORPHA:85278
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:241530
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Slender long bo... OMIM:614205
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Cortical sclerosi... ORPHA:210110
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology ORPHA:353
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Lumbar hyperlordosis, Thoracol... ORPHA:3041
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Bone marrow hypocellu... OMIM:617244
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Aphthous ul... OMIM:301082
Ring Chromosome 10 Syndrome
Sandal gap, Cachexia, Tapered finger, Micrognathia, Short neck, Thin vermilion border, Long philtrum ORPHA:1438
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:160
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Micr... OMIM:618443
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia ORPHA:3004
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyper... ORPHA:324964
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormal pelvis bone morphology, Obesity ORPHA:2206
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... ORPHA:65759
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Downturned corners of mouth, Premature adrenarche, Lethargy, Hypothalamic luteinizing... ORPHA:398079
Ulna Metaphyseal Dysplasia Syndrome
Short stature, Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the... ORPHA:1837
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K... OMIM:619797
Rosaï-Dorfman Disease
Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... ORPHA:169154
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo... ORPHA:137834
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Jaundice, Failure to thrive, Hydrocephalus OMIM:129850
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... ORPHA:95717
Classic Galactosemia
Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal erythrocyte enzyme level, Cr... ORPHA:79239
Silver-Russell Syndrome
Failure to thrive in infancy, Sandal gap, Cachexia, Dental crowding, Precocious puberty, Cryptorc... ORPHA:813
Brachydactyly, Lumbar hyperlordosis, Bowing of the legs, Hip joint hypermobility, Kyphosis, Wide ... ORPHA:15
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Acute lymphoblastic leukemia, T l... OMIM:208900
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Failure to thrive ORPHA:250994
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Hypothyroidism, Short... ORPHA:221008
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... ORPHA:95716
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... OMIM:146000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, 2-3 toe syndactyly, Depression, Thoracic kyphosis, Short finger, Long philt... OMIM:619467
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Sialidosis Type 2
Splenomegaly, Kyphosis, Osteoporosis, Hepatomegaly ORPHA:87876
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Splenomegaly, Lethargy, Hepatomegaly ORPHA:99745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Cryptorchidism, Hip dislocation, Macroglossia, Scoliosis, Open mouth, Ventriculome... OMIM:613156
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Cachexia ORPHA:1144
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Overweight, Precoc... OMIM:616222
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Hyperlordosis, Thin lower lip vermilion, Abnormal T cell subset distribution, Clinoda... ORPHA:221139
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... OMIM:301900
Hurler Syndrome
Short neck, Metaphyseal widening, Microdontia, Hepatomegaly, Hypoplasia of the femoral head, Hypo... OMIM:607014
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... ORPHA:93357
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... OMIM:618204
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Hyperinsulinemia, Osteopo... OMIM:613327
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar... ORPHA:2780
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, High palate, Camptodactyl... OMIM:618393
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Cryptorchidism, Hy... OMIM:607143
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Lethargy, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:251000
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Hyperlordosis, Coxa vara, Abnormal form o... ORPHA:2831
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Thick lower lip vermil... ORPHA:2058
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... ORPHA:77259
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... ORPHA:93307
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Increased bone mineral density, Leukocy... OMIM:259720
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Increased CSF valine concentration, Increased CSF isoleucine concentration, Increas... OMIM:246900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogeusia, Hypogonadism, Lethargy, Decreased serum testosterone conc... OMIM:201100
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Glut1 Deficiency Syndrome 1
Hypoglycorrhachia, Lethargy, Paroxysmal lethargy OMIM:606777
Otospondylomegaepiphyseal Dysplasia
Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... ORPHA:1427
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hyperlordosis, Abnormality of the dentition, Oligodontia, Thoracic kyphosi... ORPHA:557003
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive OMIM:274270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Recurrent ... OMIM:613101
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A... ORPHA:2928
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... ORPHA:221016
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp... ORPHA:2686
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip... OMIM:156550
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... ORPHA:37042
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal... OMIM:277440
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal... OMIM:610967
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot... ORPHA:2616
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Cleft palate, High palate, Scoliosis, Narrow mouth, Slender build... OMIM:256030
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis... ORPHA:39041
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Apathy ORPHA:99966
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... ORPHA:313855
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Felty Syndrome
Hepatomegaly, Sinusitis, Splenomegaly, Osteolysis, Weight loss, Anemia, Lymphadenopathy, Bone mar... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Wide mouth, Long philtru... OMIM:608776
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... ORPHA:141152
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth, Failure to thrive OMIM:620007
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... ORPHA:514
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Micrognathia, Gingival overgrowth, 2-3 toe syndactyly, Narrow palate, High palate, Thic... OMIM:618186
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Choroid plexus calcification,... OMIM:103580
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno... ORPHA:93316
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300009
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Abnormality of the spleen, Hydrocephalus, Gingival overgrowth, Abnormal... ORPHA:1834
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Failure to thrive, Anemia, Increased CSF lactate OMIM:615838
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:611762
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of th... ORPHA:2645
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventriculomegaly, Postaxial polydactyly, Splenomegaly, Hydrocephalus,... OMIM:614576
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hydrocephalus, L... OMIM:612301
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Hypoplasia of the thymus, Short philtrum, Hypothyroidism, Hypoparathyro... ORPHA:567
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... ORPHA:474
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Clubbing, Clubbing of fingers, Glossitis, Anemia OMIM:175500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Short philtrum, De... ORPHA:71267
Spinocerebellar Ataxia 48
Cachexia, Depression OMIM:618093
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu var... OMIM:615777
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Short ribs, Disp... ORPHA:1803
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... OMIM:619951
Griscelli Syndrome
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, H... ORPHA:381
Hepatomegaly, Thin upper lip vermilion, Small for gestational age, Splenomegaly, Hydrocephalus, L... ORPHA:79332
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... OMIM:612714
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Increased CSF lactate OMIM:613710
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, High palate, Scoliosis, Neutropenia, Lymphopen... OMIM:619752
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Smooth philtrum, Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick... OMIM:618342
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Craniosynostosis, Cone-sha... ORPHA:808
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l... OMIM:613849
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... ORPHA:400
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Deep ... OMIM:619542
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Failure to thrive, Lethargy, Increased CSF lactate OMIM:618226
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... ORPHA:199299
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Anauxetic Dysplasia 1
Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic ilia, Short... OMIM:607095
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Ventriculomegaly, Cachexia, Abnormality of the spleen, Thrombocytope... ORPHA:2072
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocyto