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Gene: Arhgap1 MGI:2445003

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Rho GTPase activating protein 1

Synonyms:

Cdc42GAP, p50rhoGAP, B230365D05Rik

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 Arhgap1 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 Arhgap1 (0 diseases)
Human diseases predicted to be associated with Arhgap1 (1223 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arhgap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating asp...	OMIM:614727
Winchester Syndrome	Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Gen...	OMIM:277950
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B...	OMIM:611555
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss...	ORPHA:337
Isolated Glycerol Kinase Deficiency	Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis	ORPHA:408
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Inguinal hernia, Kyphosis, Splenomegaly, Flexion contractu...	ORPHA:87876
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase...	OMIM:136300
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly	ORPHA:2786
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Fail...	OMIM:618234
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul...	ORPHA:3294
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Death in...	OMIM:184260
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Onychauxis, Abnormal hair morphology, Fr...	ORPHA:319195
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ...	ORPHA:79301
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Dorsocervical fat pad, Short neck, Osteoporosis, Low anterior hairline, Primary ame...	OMIM:616033
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-...	OMIM:600561
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Rocker bottom foot, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticacid...	OMIM:604273
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Reduced bone mineral density, Enuresis nocturna, Femoral bowing, General...	OMIM:614856
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Ectopic kidney, Abnormality of the spleen, Osteopoikilosis, Synophrys, R...	ORPHA:94063
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Ky...	ORPHA:3409
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Distal lower limb amyotrophy, Congenital foot contraction deformities, Hyperlordosis, Hand muscle...	ORPHA:363454
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex...	OMIM:602484
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ...	OMIM:620389
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophry...	OMIM:618658
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ...	OMIM:251450
Warburg Micro Syndrome 1	Overlapping toe, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Facial hypertrichosis, Failure to ...	OMIM:600118
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Osteoporo...	ORPHA:48431
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi...	OMIM:255600
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism	OMIM:615269
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, ...	ORPHA:369
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Increased verte...	OMIM:616817
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Down-sloping shoulders, Hepatoce...	OMIM:616200
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios...	ORPHA:3319
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten...	OMIM:615290
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormal intervertebral disk morphology, Lumbar hyperlordosis, Broad radial meta...	ORPHA:99642
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Intrauterine grow...	ORPHA:89844
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Osteoporosis, Nail ...	OMIM:618625
Premature Ovarian Failure 2B	Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility	OMIM:300604
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Fanconi Anemia, Complementation Group C	Ectopic kidney, Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Sho...	OMIM:227645
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes eq...	OMIM:611067
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin...	OMIM:619042
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadi...	OMIM:617053
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Short neck, Syno...	OMIM:616854
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Joint stiffness, Abnormal form of the ...	ORPHA:577
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Large for gestational age, Coxa v...	OMIM:239850
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndac...	OMIM:236500
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu...	ORPHA:97244
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Postaxial hand po...	ORPHA:85284
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Renal hypoplasia...	OMIM:615996
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hepatomegaly, Hyperl...	OMIM:226980
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu...	OMIM:253000
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cry...	OMIM:214150
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank...	ORPHA:280333
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossif...	OMIM:618392
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Cryptorc...	ORPHA:171839
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe...	OMIM:167320
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Triangular shaped phalanges o...	OMIM:618167
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we...	ORPHA:352470
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Death in infancy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion cont...	ORPHA:157973
Bethlem Myopathy 2	Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, ...	OMIM:616471
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebral wedging, Pla...	OMIM:616583
Gracile Bone Dysplasia	Death in infancy, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skull ossification, ...	OMIM:602361
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Renal agenesis, Short neck, Hemiverteb...	OMIM:615583
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporo...	ORPHA:2169
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Lipody...	OMIM:615381
Fanconi Anemia, Complementation Group I	Short neck, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the radius, Renal...	OMIM:609053
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pe...	ORPHA:1426
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Short toe, Sp...	ORPHA:429
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossificatio...	OMIM:618363
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Niemann-Pick Disease, Type A	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat...	OMIM:257200
Lessel-Kubisch Syndrome	Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism	OMIM:618681
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Inguinal hernia, Brittle hair, Arachnodactyly, Kyphoscoliosis, Methioninuria, ...	OMIM:236200
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Chondroitin sulfate excretion in u...	OMIM:253010
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Lipodystrophy, Hyperlordosis, Spinal rig...	OMIM:613327
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Prieto Syndrome	Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Talipes equinovarus, Radial deviation ...	OMIM:309610
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract...	OMIM:610687
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra...	OMIM:177170
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ...	ORPHA:2614
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Prenatal death...	OMIM:618393
Orofaciodigital Syndrome Xvii	Short neck, Short middle phalanx of the 2nd finger, Central Y-shaped metacarpal, Partial duplicat...	OMIM:617926
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Ren...	OMIM:601389
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Splenomegal...	OMIM:235200
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Bilateral talipes...	ORPHA:2958
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f...	OMIM:609324
Split-Hand/Foot Malformation 3	Ridged nail, Split hand, Renal hypoplasia, Nail dystrophy, Nail dysplasia, Camptodactyly	OMIM:246560
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Na...	OMIM:602271
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m...	ORPHA:1328
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hypertens...	OMIM:619487
Fanconi Anemia, Complementation Group A	Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short thumb, Cryptorchidism, An...	OMIM:227650
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D...	ORPHA:79239
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon...	OMIM:265900
Cach Syndrome	Premature ovarian insufficiency, Flexion contracture, Renal hypoplasia, Secondary amenorrhea, Hep...	ORPHA:135
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb...	OMIM:256050
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo...	OMIM:612847
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He...	ORPHA:264580
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nuclea...	OMIM:617760
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the h...	ORPHA:166011
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Proximal amyotrophy, Scoliosis	OMIM:617404
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo...	OMIM:618524
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Abnormal hai...	ORPHA:2796
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly	ORPHA:796
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend...	ORPHA:62
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Splenomegaly,...	ORPHA:79240
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, H...	ORPHA:85288
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger ...	OMIM:603467
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Shoulder di...	OMIM:618000
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Hypospadias, Arachnodactyly, Short neck, Kyphosis, Crypto...	OMIM:248700
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Thoracic scoliosis, Multiple joint contractures, Small for ...	ORPHA:2959
Xeroderma Pigmentosum, Complementation Group F	Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Scoliosis, Decrease...	OMIM:278760
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent...	OMIM:616852
Ck Syndrome	Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Abnormal cortical bone morphology,...	OMIM:300831
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Weakness of facial musculature...	OMIM:610313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, F...	ORPHA:75840
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Nephrotic syndrome, Nep...	ORPHA:1192
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hypergonad...	OMIM:600901
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Scoliosis, Type 1 muscle fibe...	OMIM:161800
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hyperlordosis, Hypoplasia of the odon...	OMIM:184250
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasia, Foot oligo...	OMIM:616589
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Facial hypotonia, Short nec...	ORPHA:85194
Dysspondyloenchondromatosis	Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum...	ORPHA:85198
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Su...	OMIM:614376
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism, Decreased body weight	OMIM:617564
Myasthenic Syndrome, Congenital, 14	Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Distal joint laxity,...	OMIM:616228
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele...	OMIM:620351
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thorac...	OMIM:242900
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Shor...	OMIM:250250
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Scoliosis, Lipoma...	OMIM:612918
Emanuel Syndrome	Recurrent urinary tract infections, Sacral dimple, Congenital hip dislocation, Torticollis, Unila...	OMIM:609029
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypoplasia, V...	OMIM:617661
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased m...	ORPHA:231226
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Thoracic kyp...	ORPHA:3041
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Decreased muscle...	ORPHA:465508
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta...	OMIM:160150
Mycetoma	Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal ...	ORPHA:2583
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Kyphosis, Cryptorchidism, Reduced bone mineral density, Prem...	ORPHA:2617
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Familial Anetoderma	Generalized joint laxity, Lumbar hyperlordosis, Abnormal tibia morphology	ORPHA:228277
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hy...	ORPHA:231214
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Abnor...	ORPHA:93315
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Osteoporosis, Decreased fertility, Primary a...	ORPHA:2410
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors...	OMIM:617087
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Microcytic anemia, Hyp...	OMIM:600462
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short neck, Abnormal eyelash morphology, Renal hypoplasia,...	ORPHA:1745
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hip dysplasia, Scol...	OMIM:618494
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Micromelia,...	OMIM:241500
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Osteoporosis	Osteoporosis	OMIM:166710
Perrault Syndrome 1	Primary amenorrhea, Osteoporosis, Talipes equinovarus, Scoliosis	OMIM:233400
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Abnormality of the vertebral column, Stillbirth...	OMIM:276950
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Facial diplegi...	OMIM:611890
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Triphalangeal thumb, Small hypothenar eminence, Lumbar hyperlordo...	ORPHA:2232
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Dentinogenesis imperfecta	ORPHA:71267
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif...	OMIM:607323
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o...	OMIM:618484
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morpholo...	ORPHA:163665
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Geroderma Osteodysplastica	Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of...	ORPHA:2078
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Low anterior hairline, Coxa vara, Wrist flexion ...	ORPHA:800
Ollier Disease	Micromelia, Joint stiffness, Osteolysis, Platyspondyly, Lymphangioma, Abnormal metaphysis morphol...	ORPHA:296
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing...	OMIM:612350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ...	OMIM:609308
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Distichiasis, Anemia	ORPHA:2598
Pseudopseudohypoparathyroidism	Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity, Enamel hypoplasia, Brachyd...	OMIM:612463
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Cryptorchidism, Obesity, Renal hypoplasia, Patellar hypoplas...	ORPHA:464288
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98855
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S...	OMIM:613849
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia	OMIM:236110
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Osteopor...	OMIM:606054
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Shashi-Pena Syndrome	Short metacarpal, Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Synophrys, Osteopor...	OMIM:617190
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Lymphopenia, Postaxial polydactyly, Highly arched eyebrow, T...	OMIM:618460
Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Increase...	ORPHA:902
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab...	ORPHA:2635
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Small hypothenar eminence, Short thumb, Osteoporosis, Neutropenia,...	OMIM:612562
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Lumbar hyperlordosis, Abnormal macrophage morphology, Calf muscle pseudohypertr...	ORPHA:353
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr...	OMIM:612199
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint...	ORPHA:1803
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Incr...	ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Trichothiodystrophy	Osteopenia, Ridged nail, Multiple joint contractures, Brittle hair, Thoracic kyphosis, Neutropeni...	ORPHA:33364
Myopathy, Distal, 1	Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra...	OMIM:160500
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Inguinal hernia, Unilater...	ORPHA:96170
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ...	ORPHA:206546
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch...	OMIM:301900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased variability in muscle ...	ORPHA:52430
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Osteoporosis, Nephrolithiasis, Obesity, Abdominal obesity, Oli...	OMIM:219090
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Osteoporosis, Abnormality of endocrin...	ORPHA:79230
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Femoral hernia, ...	ORPHA:198
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abno...	ORPHA:1856
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis, Muscular dystrophy	OMIM:204730
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Myopathy, Hypoplastic spleen, Anemia	OMIM:185070
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leuko...	OMIM:613989
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis, Hirsutism	OMIM:300434
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, H...	OMIM:615546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl...	OMIM:613156
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias,...	OMIM:102500
Cornelia De Lange Syndrome 1	Micromelia, Ectopic kidney, Short neck, Proximal placement of thumb, Congenital diaphragmatic her...	OMIM:122470
Degcags Syndrome	Osteopenia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of ha...	OMIM:619488
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce...	OMIM:184252
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of ...	OMIM:190350
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo...	ORPHA:1775
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Limited hip extension, Urinary incontinence...	OMIM:617114
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa...	OMIM:608940
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os...	ORPHA:955
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Facial palsy,...	OMIM:611490
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Neonatal death, Failure to thrive	OMIM:618237
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl...	OMIM:210710
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyperlordosis, Short neck,...	OMIM:615222
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformi...	OMIM:610539
Ulnar-Mammary Syndrome	Hypoplasia of penis, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnormal finge...	ORPHA:3138
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Decreased testicular size, Hypogonadotropic hypogonadism, Female h...	ORPHA:432
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol...	OMIM:619131
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru...	OMIM:239000
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia...	ORPHA:1901
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b...	OMIM:619451
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Hypoplasia of the odontoid ...	OMIM:264180
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Osteoporosis, Rickets, Death in adolescence, Proximal tubulopathy, Death ...	OMIM:560000
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anterior beaking of l...	OMIM:253220
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Scoliosis	OMIM:616756
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Recurrent fractures, Thrombocytopenia, Oroticaciduria, Spl...	OMIM:222700
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Kyphoscoliosis, Cervical spondylosis, Alopecia of scalp, Localized osteoporosis	ORPHA:199354
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Inguinal hernia, Short neck, K...	ORPHA:61
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypopl...	OMIM:601186
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Renal Hypoplasia, Bilateral	Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis...	ORPHA:97362
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi...	OMIM:271640
Kinsship Syndrome	Osteopenia, Death in infancy, Sacral dimple, Short neck, Coxa valga, Synophrys, Hip dislocation, ...	OMIM:619297
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog...	OMIM:616507
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys...	OMIM:615761
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Bil...	OMIM:619542
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Avascular necrosis of the capital fe...	OMIM:613990
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc...	ORPHA:2470
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Short palm, Micropenis, Syndactyly, Hypogonadotropic hypogonad...	OMIM:176270
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck,...	OMIM:269860
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Camptocormia, ...	OMIM:617595
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Osteoporosis, Obesity, Short metatarsal, Subcutaneous os...	OMIM:103580
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac...	OMIM:619751
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Platyspond...	OMIM:230600
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Three M Syndrome 1	Scapular winging, Thick eyebrow, Hypospadias, Small for gestational age, Short neck, Hyperlordosi...	OMIM:273750
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ...	OMIM:603034
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo...	ORPHA:628
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Failure to thrive	ORPHA:172
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int...	ORPHA:508498
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Hyperlordosis, Small hand, Talipes equinovarus, Camptod...	OMIM:619980
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Deat...	OMIM:309400
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Camptodactyly...	OMIM:616006
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis,...	ORPHA:582
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Absence Deformity Of Leg-Cataract Syndrome	Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ...	ORPHA:2310
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Nail pi...	OMIM:127550
Werner Syndrome	Low back pain, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentra...	OMIM:277700
Hadziselimovic Syndrome	Failure to thrive, Low anterior hairline, Renal hypoplasia	OMIM:612946
Wilson Disease	Back pain, Hepatomegaly, Acute hepatitis, Acute hepatic failure, Elevated hepatic transaminase, A...	ORPHA:905
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa...	ORPHA:2848
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dystrophy, Decreased testicul...	ORPHA:1875
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar kyphoscoliosis, Metaphyseal cup...	OMIM:618853
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Masa Syndrome	Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis	OMIM:303350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla...	OMIM:615349
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Generalized hirsutism, Hyperlordosis, Hepatosplenomegaly, ...	ORPHA:354
Macs Syndrome	Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral ...	OMIM:613075
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Obesity, Seco...	ORPHA:3085
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Sacral dimple, Short fourth metatarsal, Hypospadias, Renal hypoplasia, ...	OMIM:601390
Ovarian Dysgenesis 1	Osteoporosis, Primary amenorrhea	OMIM:233300
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Shoulder dislocation, Dislocated radial ...	OMIM:245600
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip disl...	ORPHA:171436
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Death in infancy, Sandal gap, Thrombocytopenia, ...	OMIM:617475
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Low anterior hairline, Low po...	OMIM:609128
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Coxa valga, Flat acetabular r...	ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Abnormality of the nail, Large tarsal...	ORPHA:3168
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Clinodactyly, Renal h...	OMIM:616541
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Pycnodysostosis	Ridged nail, Generalized osteosclerosis, Hypoplastic iliac wing, Abnormality of the nail, Joint l...	ORPHA:763
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh...	ORPHA:2616
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchid...	OMIM:619185
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy	OMIM:613723
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,...	OMIM:610965
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne...	ORPHA:2176
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Th...	OMIM:114300
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis...	ORPHA:398079
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Lo...	OMIM:617952
Ck Syndrome	Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Slender build, Joint hypermobility	ORPHA:251383
Stuve-Wiedemann Syndrome 1	Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair, Short tibia, Sh...	OMIM:601559
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de...	ORPHA:261318
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Os...	ORPHA:536467
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Micropenis, Decreased ...	OMIM:614880
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ...	ORPHA:65759
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Short neck, Cryptorchidism, Platyspo...	OMIM:618958
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Brittle hair, Small for gestational age, Hypopigmentation of hair,...	ORPHA:84064
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Eosinophilia, Kypho...	OMIM:617425
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Craniosynostosis, Tape...	OMIM:620005
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eye...	OMIM:614527
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo...	OMIM:146000
Odontochondrodysplasia	Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ...	ORPHA:166272
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252930
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Distal join...	OMIM:254090
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia	OMIM:615085
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ...	OMIM:259440
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs...	OMIM:146510
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ...	OMIM:619636
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Diamond-Blackfan Anemia 1	Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia,...	OMIM:105650
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Osteoporosis, Rickets, Weight loss, I...	OMIM:212750
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary amenorrhea, Micrope...	OMIM:610628
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb ...	ORPHA:353327
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Cleidocranial Dysplasia	Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased skull ossificatio...	ORPHA:1452
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ...	OMIM:230650
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Skeletal muscle atrophy, Hypogonadotropic hypogon...	ORPHA:3068
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, Du...	OMIM:156550
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Abnor...	ORPHA:168549
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal synostosis, Abnormal mo...	ORPHA:1307
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Abnormal radial ray morpho...	OMIM:617784
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Weight...	ORPHA:49041
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally...	OMIM:255310
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja...	ORPHA:333
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co...	ORPHA:178148
Rauch-Steindl Syndrome	Hepatomegaly, Sacral dimple, Miscarriage, Highly arched eyebrow, Bilateral renal hypoplasia, Clin...	OMIM:619695
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphys...	OMIM:300232
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Clinodactyly, Flexion...	OMIM:615547
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly...	ORPHA:583
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology	ORPHA:1548
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Omphalocele, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,...	ORPHA:371428
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato...	OMIM:277900
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Reduced bone mineral...	ORPHA:2983
Hall-Riggs Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Joint stiffness, Platyspondyly,...	ORPHA:2107
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met...	OMIM:619638
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Osteoporosis, Increased body w...	ORPHA:189427
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A...	OMIM:268400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow	ORPHA:2429
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity, Hypogonadism, Low urinary ...	OMIM:612462
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Os...	OMIM:615398
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Genu valgum...	OMIM:252605
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Kyphoscolios...	OMIM:309583
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N...	OMIM:615285
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort...	OMIM:120330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Obesity, Irreg...	OMIM:618395
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Osteoporosis, Low anterior hairline, Low posterior hairline, Truncal o...	ORPHA:73272
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu...	ORPHA:86812
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Kyphosis, Cryptorchidism, Flexion contracture, Osteoporosis...	ORPHA:398069
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:133540
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Kyphoscoliosis, Long fingers, Osteoporosis, Hip dislocation, Hip dyspl...	ORPHA:447980
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Limited elbow movement, Joint stiffne...	OMIM:614008
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ...	OMIM:607095
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n...	OMIM:169400
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Death in infancy, Short neck, Joint stiffness, Kyphosis, Splenomeg...	OMIM:230500
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Short metacarpal, Facial hyp...	OMIM:216550
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Platy...	ORPHA:93267
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Failure to thrive, Facial myokymia	OMIM:620007
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Hyperlordosis, Crypt...	ORPHA:1387
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:609220
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa valga, S...	OMIM:230000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint c...	OMIM:618914
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:85174
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphos...	ORPHA:3098
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Cryptorchidism, Cong...	ORPHA:352490
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp...	ORPHA:15
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Otospondylomegaepiphyseal Dysplasia	Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor...	ORPHA:1427
Bardet-Biedl Syndrome 3	Brachydactyly, Obesity, Postaxial polydactyly, Renal hypoplasia	OMIM:600151
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Hypospadias, Proximal placement of thumb, Congenital dia...	ORPHA:94065
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow	OMIM:609384
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis	OMIM:610475
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu...	ORPHA:93346
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity	OMIM:219080
Burn-Mckeown Syndrome	Inguinal hernia, Unilateral renal agenesis, Renal hypoplasia, 2-3 toe syndactyly, Hypomimic face	OMIM:608572
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Cryptorchidism, Short metatarsal, Small ...	OMIM:180870
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Pterygium of na...	OMIM:224230
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Thick hair, Large for gestational age, Osteoporosis, Low anterior hairl...	ORPHA:363705
Mulchandani-Bhoj-Conlin Syndrome	Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly, Failure to thrive	OMIM:617352
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia,...	ORPHA:2874
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Low anterior hairline, Leukopen...	OMIM:617303
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Reduced bone mineral densit...	ORPHA:79474
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Hypospadias, Short neck, Mu...	OMIM:616897
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of...	ORPHA:77258
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Abs...	OMIM:614083
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp...	ORPHA:2636
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Short neck, Metatar...	ORPHA:3082
X Small Rings	Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Short neck, Tapered finger, Fetal ...	ORPHA:96201
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Postaxial hand polydactyly, Renal hypoplasia, Coarse hair, Nail dystrophy	ORPHA:75389
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in ...	OMIM:613385
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi...	ORPHA:3454
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Highly arched eyebrow, Supernumera...	OMIM:618454
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi...	ORPHA:464329
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal finger morphology, Cone-shaped ...	ORPHA:2511
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Joint stiffness, Heparan sulfate excretio...	OMIM:607015
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Three M Syndrome 3	Small for gestational age, Short neck, Hyperlordosis, Increased vertebral height, Slender long bo...	OMIM:614205
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Renal hypoplasia, Umbilic...	ORPHA:85321
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hepatic fibrosis, Sparse hair, Joint laxity, Hepatomegaly, Rhizomel...	OMIM:218330
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu...	OMIM:607330
Wieacker-Wolff Syndrome	Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, ...	OMIM:314580
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Lower limb muscle weakness, Myopath...	OMIM:615980
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias...	OMIM:300998
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Fr...	OMIM:619797
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Umbilical hernia, Sc...	OMIM:615834
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Br...	OMIM:165800
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Centrally ...	OMIM:248800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Splenomegaly, Renal hyp...	OMIM:617913
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia	ORPHA:319199
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Narrow greater sciatic...	ORPHA:508533
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hepatomegaly, Hypoplasia of the fe...	OMIM:607014
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs	ORPHA:156728
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal hair morphology, Abnormal fem...	ORPHA:3130
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ul...	OMIM:620076
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m...	OMIM:615156
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis	OMIM:615267
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Scapular winging, Monkey wrench femoral neck, Micromelia, Hyperlordosis, 2-3 toe sy...	OMIM:618870
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared iliac bon...	OMIM:616300
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Ost...	ORPHA:139507
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Dorsocervical fat pad, Osteoporosis, Increased body weight, Hirsutism	OMIM:615830
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Elevated hepatic transaminase, Congenital hip dislocation, Left ventricular hypert...	OMIM:300280
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, Distal joint laxity...	ORPHA:1900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic ...	ORPHA:91
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Isolated Atp Synthase Deficiency	Hepatomegaly, 3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia	ORPHA:254913
Joubert Syndrome 22	Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly	OMIM:615665
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Micropenis, He...	OMIM:270400
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral ...	ORPHA:1354
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ...	OMIM:613848
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Scoliosis	ORPHA:505652
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Congenital diaphragmatic hernia, Bila...	ORPHA:2409
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies...	ORPHA:2831
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ...	ORPHA:1830
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis	OMIM:615270
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ...	OMIM:600785
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Clinodactyly, Decreased testicular size	OMIM:614838
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis	OMIM:184840
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Chronic kidney disease, Osteoporosis, Short long ...	OMIM:602152
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Short neck, Limited kn...	OMIM:615065
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypospadias, Joint hypermobility, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchi...	OMIM:619718
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Premature osteoarthritis, Flexion...	OMIM:215150
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Micromelia, Proximal placement of thumb, Kyphos...	ORPHA:3121
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss...	OMIM:269250
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized ...	ORPHA:171
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Increased interve...	OMIM:607944
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Brachydactyly, Lipoatrophy, Recurrent fractures, Osteoporosis, Tibial bowing, ...	OMIM:601812
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Unilateral renal agenesi...	OMIM:619951
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Anony...	OMIM:616455
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Brachydactyly, Congenital hip dislocation, Thick eyebrow, Hyperlordosis, Tapered fing...	OMIM:616007
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cr...	ORPHA:191
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Hypospadias, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Trache...	ORPHA:314679
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo...	ORPHA:666
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Distal lower limb amyotrophy, Hypospadias, Sandal gap, Kyphosis, Cryptorchidism, Sm...	OMIM:300354
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Rhizomeli...	OMIM:611209
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Synophrys, Short phalanx of finger, Genu varum, Joint laxity, S...	OMIM:615777
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Flexion contracture, Osteoporosis, Scoliosis	OMIM:615851
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Abnormal eyelash morphology, Abnor...	ORPHA:2671
Congenital Myopathy 17	Diaphragmatic eventration, Failure to thrive in infancy, Overlapping toe, Tapered finger, Clinoda...	OMIM:618975
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Amish Lethal Microcephaly	Hepatomegaly, Death in infancy, Limitation of joint mobility, Osteoporosis, Organic aciduria, Dec...	ORPHA:99742
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Short neck, Low anterior hairline, Renal hypoplasia, C...	OMIM:617666
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hirsutism	ORPHA:77296
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Death in infancy...	OMIM:615512
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the ...	ORPHA:834
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair...	OMIM:614742
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Hypogonadotropic hypogonadism, C...	ORPHA:98754
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide ...	OMIM:613320
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Fem...	OMIM:615415
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Micromelia, Short neck, Rocker bottom foot, Aspleni...	ORPHA:99776
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteo...	ORPHA:79259
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Immunodeficiency 12	Abnormal lymphocyte count, Clubbing, Osteoporosis, Death in adolescence, Decreased body weight	OMIM:615468
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Kyphosis, Osteoporosis, Secondary amenorrhea, Trunc...	OMIM:610489
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyp...	ORPHA:2655
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hyperlordosis, Nephrocalcinosis, Abnormality of the frontal hairline, Thor...	ORPHA:557003
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei...	ORPHA:324964
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypoplasia, Thrombocytopen...	OMIM:612541
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly, Micromelia	ORPHA:93283
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Hypoplasia of the uln...	OMIM:118450
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, ...	ORPHA:90354
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha...	OMIM:620285
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Hypogonadotropic hypogonadism, C...	ORPHA:98793
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capitate-hamate fu...	OMIM:304150
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Low posterior hairlin...	ORPHA:1323
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the nails, Abdominal situs inversus, Ca...	OMIM:619123
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Genu valgum, Joint hyperflexibility, Platyspondyly, Irregular vertebral end...	ORPHA:250984
Analbuminemia	Lipodystrophy, Osteoporosis	OMIM:616000
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Hepato...	OMIM:253200
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypogonadotropic hypogonadism, Recurrent fractures, Osteoporosis, Obesity, Decreased fertility, R...	ORPHA:2235
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Hypogonadotropic hypogonadism, C...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Small for gestational age, Hypogonadotropic hypogonadism, C...	ORPHA:177901
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc...	ORPHA:169186
Steel Syndrome	Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Scoliosis, Carp...	OMIM:615155
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy...	ORPHA:2801
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Sparse lateral eyebrow, Unilateral renal hypoplasia, Short neck	OMIM:619955
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi...	ORPHA:1475
Pseudoaminopterin Syndrome	Limited elbow movement, Asplenia, Patchy reduction of bone mineral density, Synostosis of carpal ...	ORPHA:221120
Functioning Gonadotropic Adenoma	Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual c...	ORPHA:91348
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, Clin...	OMIM:135900
Hypomelanosis Of Ito	Syndactyly, Alopecia, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodac...	OMIM:300337
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Small hand, Obesity, G...	OMIM:618443
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Skeletal muscle atrophy, Thick eyebrow, Diastasis recti, Short nec...	ORPHA:488632
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Abnormal ...	OMIM:224300
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Kyphosis, Split hand, Obesity, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Williams Syndrome	Osteopenia, Hypoplasia of penis, Hypoplastic toenails, Abnormal tubulointerstitial morphology, Ab...	ORPHA:904
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Short neck, Thrombocytopenia, Cryptorchidism, Cholestasis, Talipe...	OMIM:608104
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow ve...	OMIM:601216
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyper...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyper...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyper...	ORPHA:99226
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Thromboc...	OMIM:243150
Turner Syndrome	Osteopenia, Ectopic kidney, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyper...	ORPHA:881
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor...	ORPHA:137834
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture o...	ORPHA:1883
Lysinuric Protein Intolerance	Osteopenia, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtra...	ORPHA:470
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Arachnodactyly, Recurrent fractur...	ORPHA:394
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Nail-Patella Syndrome	Back pain, Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor mus...	OMIM:161200
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Small for gestational age, Recurrent fra...	OMIM:616229
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Failure to thrive, Osteoporosis	OMIM:266510
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Scarring, Anisocytosis, Inc...	ORPHA:79277
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ...	OMIM:618291
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp...	OMIM:209950
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Osteoporosis, Ne...	OMIM:232200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Mcdonough Syndrome	Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidi...	ORPHA:2471
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, D...	ORPHA:85293
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short...	OMIM:212720
Andersen-Tawil Syndrome	Joint laxity, Small hand, Renal hypoplasia, 2-3 toe syndactyly, Renal tubular dysfunction, Short ...	ORPHA:37553
Clark-Baraitser syndrome	Joint laxity, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorchidism	OMIM:300602
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Cryptorchidism, Osteoporosis, Small hand, Primary amenorrhe...	ORPHA:739
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dyspla...	OMIM:608776
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Baralle-Macken Syndrome	Urinary incontinence, Tapered finger, Kyphosis, Obesity, Hirsutism	OMIM:619255
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Cr...	OMIM:602471
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye...	ORPHA:3253
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Portal hypertension, Abnor...	ORPHA:284
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Bilateral renal agenesis, Arthrogrypos...	OMIM:616258
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Increased bone mineral density, Dia...	OMIM:131300
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Small for gestatio...	OMIM:609625
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Joint stiffness, Hy...	ORPHA:1860
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Decreas...	ORPHA:221139
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Facial hypertrichosis, Scarring, Splenomegaly, Scarring alopecia of...	ORPHA:95159
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d...	OMIM:613027
Prolactinoma	Osteopenia, Abnormal hair quantity, Dyspareunia, Decreased female libido, Hypogonadotropic hypogo...	ORPHA:2965
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Dorsocervical fat pad, Leukocytosis, Osteopo...	ORPHA:96253
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, Clinodactyly of ...	OMIM:619758
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Short neck, Kypho...	ORPHA:254346
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Scoliosis, Limited...	OMIM:619719
Pseudotrisomy 13 Syndrome	Omphalocele, Renal agenesis, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Renal hyp...	OMIM:264480
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ...	OMIM:617052
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e...	ORPHA:1782
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E...	OMIM:618138
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
22Q11.2 Deletion Syndrome	Short neck, Hypoplasia of the thymus, Vesicoureteral reflux, Hypospadias, Arachnodactyly, Abnorma...	ORPHA:567
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph...	ORPHA:93316
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol...	ORPHA:2916
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Hy...	OMIM:619321
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los...	OMIM:263700
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion con...	OMIM:614438
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Metaphyseal widening, Death in childhood, Sparse hair, Hepatomegaly, Th...	OMIM:252500
Perrault Syndrome 4	Premature ovarian insufficiency, Osteoporosis, Obesity, Secondary amenorrhea, Primary amenorrhea,...	OMIM:615300
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibi...	ORPHA:93274
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal creas...	OMIM:108145
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S...	ORPHA:352447
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Split nail, Alopecia, Hyp...	OMIM:305000
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Congenita...	ORPHA:2260
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Osteoglophonic Dysplasia	Osteopenia, Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Short phalanx of fing...	OMIM:166250
46,Xx Gonadal Dysgenesis	Osteopenia, Premature ovarian insufficiency, Arachnodactyly, Streak ovary, Sparse pubic hair, Dec...	ORPHA:243
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope...	ORPHA:227990
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Death in infancy, Elevated hepatic transaminase, Proteinuria, Premature...	OMIM:212065
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Thoracic kyphosis, Hernia, Lumbar hyperlordosis, Hep...	ORPHA:505248
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platys...	OMIM:300863
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis	OMIM:613735
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Congenital hip d...	ORPHA:536545
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li...	ORPHA:812
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Jansen-De Vries Syndrome	Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Small nail, Brachydactyly	OMIM:617450
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney...	ORPHA:3063
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Flexion contracture, ...	ORPHA:86309
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, 2-3 toe syndactyly, Thoracic kyphosis, Short finger, Clinodactyly of the 5t...	OMIM:619467
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Srd5A3-Cdg	Elevated hepatic transaminase, Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sa...	ORPHA:324737
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Anemia, Bone marrow hypocellularity, Scoliosis, Pelvic kidney, Ch...	OMIM:617244
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, L...	ORPHA:39041
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Bowing of the legs...	ORPHA:1855
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Brachydactyly, Sparse scalp hair, Small for gestational age, Death in inf...	OMIM:615789
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Myopathy, Limb-girdle muscular dystro...	ORPHA:369840
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morphology, Abnormal ve...	ORPHA:90653
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorc...	OMIM:617796
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Sacral dimple, Bowing of the long bones, Recurrent fra...	ORPHA:3206
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Short neck, Heparan sulfate excretion in urine, Kyphosis, Splenome...	OMIM:309900
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Short neck, Proximal placemen...	OMIM:261540
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope...	ORPHA:227982
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Sparse hair, Clinodactyly of the...	ORPHA:251028
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Premature graying of hair, Vesicoureteral refl...	OMIM:194050
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, Limitation of j...	ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, H...	ORPHA:568
3Mc Syndrome	Diastasis recti, Craniosynostosis, Hyperlordosis, Highly arched eyebrow, Supernumerary nipple, Bi...	ORPHA:293843
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Curly hair, Arachnodactyly, Hyperlordosis, Scoliosis, Prominent fingertip pads, Fai...	OMIM:300986
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B...	ORPHA:313892
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Facial palsy, Hyperlordosis, High iliac wing, Osteopetrosis, Scol...	ORPHA:2780
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis, Chondrocalc...	ORPHA:99879
Ovarian Dysgenesis 8	Eunuchoid habitus, Osteoporosis, Primary amenorrhea	OMIM:618187
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Distal Deletion 10Q	Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short ...	ORPHA:96148
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis, Synostosis ...	ORPHA:3191
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Crisponi Syndrome	Death in infancy, Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mob...	ORPHA:1545
Pelvis-Shoulder Dysplasia	Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty...	ORPHA:2839
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Menkes Disease	Bowing of the long bones, Osteomyelitis, Inguinal hernia, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
Stickler Syndrome, Type I	Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis...	OMIM:108300
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma...	ORPHA:66627
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypogonadotropic hypogonadism, Osteoporosis, Reduced bone mi...	ORPHA:261476
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular...	OMIM:606003
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Umbilical hern...	ORPHA:2181
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w...	OMIM:614409
Mucopolysaccharidosis, Type X	Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine, Genu valgum, Platyspondyly, ...	OMIM:619698
Cardiofaciocutaneous Syndrome 3	Curly hair, Short neck, Reduced bone mineral density, Scoliosis, Failure to thrive	OMIM:615279
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Kyphosis, Chronic kidney ...	ORPHA:261222
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Thick eyebrow, Macroorchidism, Hy...	OMIM:619950
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Bone cyst, O...	ORPHA:3042
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Abnormality of secondary sexual hair, Infertility, Ost...	ORPHA:95619
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, F...	ORPHA:365
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, 2-3 toe syn...	OMIM:617866
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Nephrotic...	ORPHA:79327
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Short neck, Short metatarsal, Renal cyst, Hepatic ...	OMIM:266920
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Myopathy, Stillbirth, Hydrone...	OMIM:243605
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metacarp...	OMIM:108720
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptod...	ORPHA:2311
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypospadias, Dysmenorrhea, Sparse axillary hair, Hypergonadotropic hyp...	ORPHA:90796
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, ...	ORPHA:2789
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Abnormal dental enamel morphology, Joint stiffness, K...	ORPHA:1005
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Synophrys, Small hand, Short foot, Long eyelash...	ORPHA:238750
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Synophrys, Abnormal fo...	ORPHA:3219
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Urinary glycosamin...	ORPHA:79255
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia	OMIM:619053
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula...	ORPHA:26791
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse p...	OMIM:181270
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Delayed epiphyseal ossification, Osteoporosis, Primary...	ORPHA:785
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Morquio Syndrome C	Platyspondyly	OMIM:252300
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Osteoporosis	OMIM:601811
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Cohen Syndrome	Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Tapered finger, Abno...	ORPHA:193
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Craniosynostosis, Hyperlordosi...	ORPHA:794
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ...	OMIM:618150
Alpha-Mannosidosis, Infantile Form	Osteopenia, Short neck, Oligosacchariduria, Cortical thickening of long bone diaphyses, Hypoplast...	ORPHA:309282
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, H...	OMIM:310200
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky...	OMIM:615084
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis	OMIM:176670
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Tapered finger, Hyperlordosis, Synophrys, Hip dislocation, Obesity, Genu valgum, He...	OMIM:301066
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas...	OMIM:618272
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Urinary incontinence, Rocker bottom foot, Short ne...	OMIM:301041
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ...	OMIM:225400
Renpenning Syndrome 1	Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Death in childhood, Sparse hair, Scoliosis...	OMIM:309500
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Bilateral renal hypoplasi...	ORPHA:508488
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr...	OMIM:616294
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Heparan sulfate excretion in urine...	OMIM:615273
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Kyphosis, Cryptorchidism, Abnormal sho...	ORPHA:2115
Lowry-Wood Syndrome	Epiphyseal dysplasia, Brachydactyly, Abnormality of nail color, Joint stiffness, Coxa vara, Irreg...	ORPHA:1824
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ...	ORPHA:2909
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck, Sle...	OMIM:612921
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Mucop...	ORPHA:349
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Myositis, Lipodystrophy, Thrombocytopen...	OMIM:617591
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pathologic fracture, V...	OMIM:230800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the ...	OMIM:102700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadism, Aspleni...	OMIM:240300
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short femo...	OMIM:249700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Talipes equ...	OMIM:617988
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Abnormal 5th finger ...	ORPHA:1439
Myotonia Permanens	Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Limitation of joint mobility, Hyperl...	ORPHA:99735
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Axial ...	OMIM:274000
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepati...	OMIM:304790
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange...	ORPHA:710
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal...	ORPHA:85408
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Severe generalized osteoporosis, Kyphoscoliosis, Hypoplastic pubic ...	OMIM:210730
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic...	OMIM:619377
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers...	ORPHA:254892
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Lymphadenitis, Leukocytosis...	OMIM:615895
Sjögren-Larsson Syndrome	Kyphosis, Abnormal dental enamel morphology, Scoliosis, Joint stiffness	ORPHA:816
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Kyphosis,...	ORPHA:314588
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing...	ORPHA:221008
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Hyperc...	ORPHA:2658
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Absence of the sacrum, Renal hypoplasia, Butterfly vertebrae	OMIM:617660
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Scoliosis, Sp...	ORPHA:64755
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Hirsutism, Scoliosis	OMIM:300861
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Osteoporosi...	ORPHA:143
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Urinary incontinence, Kyphosis, Hip dislocatio...	ORPHA:464282
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Clinodactyly, ...	OMIM:301040
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Ve...	ORPHA:251014
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Arachnodactyly, Abnormal fingernail morphology, Splenomegaly, L...	ORPHA:742
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Renal agenesis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Osteoporosis...	ORPHA:2326
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Intra...	ORPHA:436252
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hern...	ORPHA:3218
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Hyperlordosis,...	ORPHA:268
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Limited shoulder m...	ORPHA:576
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,...	ORPHA:392
Okamoto Syndrome	Omphalocele, Urinary incontinence, Splenomegaly, Extension of hair growth on temples to lateral e...	ORPHA:2729
Kleefstra Syndrome 2	Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Hypopigmentation of hair, Hypospadias, Arachnodactyly, Ab...	ORPHA:96169
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Death in infancy, Osteomalac...	ORPHA:534
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins...	ORPHA:309031
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morpho...	ORPHA:2461
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Hypoplasia of the thymus	OMIM:617022
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Premature graying of hair, Nail dystroph...	OMIM:620365
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ...	ORPHA:79408
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Postaxial h...	ORPHA:2075
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Preaxial hand polydactyly, ...	ORPHA:93271
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Pancreatic adenocarcinoma, Leuk...	ORPHA:99889
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Abdominal obesity, Osteoporosis, Increased body weight	OMIM:615954
Pure Mitochondrial Myopathy	Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab...	ORPHA:254854
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Facial ...	OMIM:259720
Fanconi Anemia, Complementation Group B	Death in infancy, Abnormality of chromosome stability, Renal agenesis, Aplastic anemia, Hypergona...	OMIM:300514
Glass Syndrome	Inguinal hernia, Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Long eyelashes, Talipe...	OMIM:612313
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Abnormality of the nail, Mesomelia, B...	ORPHA:171866
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Dentinogenesis imperfecta, Obesity, Cone-shaped epiphyses of the phalanges...	OMIM:619269
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp...	ORPHA:2215
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal...	ORPHA:140
Adrenomyodystrophy	Megacystis, Reduced bone mineral density, Myopathy, Abnormality of the urinary system, Failure to...	ORPHA:977
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Irregular menstruation, Femoral...	OMIM:616482
Noonan Syndrome 14	Curly hair, Scapular winging, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism, Low posterior...	OMIM:619745
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Kyphosis, Cryptorchidism...	OMIM:619005
Multiple Myeloma	Osteopenia, Splenomegaly, Nephropathy, Weight loss, Abnormality of the bladder, Nephrotic syndrom...	ORPHA:29073
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Inguinal hernia, Short neck, Kyphosi...	OMIM:130720
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Facial hypotonia, Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Abnormality of m...	ORPHA:364028
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing...	ORPHA:221016
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormalit...	ORPHA:54251
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine...	OMIM:162300
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Small for gestational age, P...	OMIM:610443
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Tendon xan...	ORPHA:909
Stiff-Person Syndrome	Lumbar hyperlordosis, Anemia, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, A...	OMIM:184850
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Osteomal...	OMIM:309000
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr...	ORPHA:558
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Widow's peak, Bil...	OMIM:617746
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Sparse axillary...	ORPHA:251510
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Short neck, S...	OMIM:617157
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis...	OMIM:620366
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Hallermann-Streiff Syndrome	Sparse scalp hair, Small for gestational age, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Cr...	OMIM:234100
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Inguinal hernia, Sandal gap, Camptodacty...	ORPHA:261349
Opitz-Kaveggia Syndrome	Syndactyly, Sacral dimple, Multiple joint contractures, Hypospadias, Lumbar hyperlordosis, Broad ...	OMIM:305450
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, S...	ORPHA:192
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Oste...	OMIM:307030
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Osteoporosis, Biliary cirrhosis, Hepatitis, Abnormal intrahepatic ...	ORPHA:186
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Synophrys, Flared metaphysis, Advanced ossification of carpal bones, Fl...	OMIM:610442
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Osteoporosi...	ORPHA:99880
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan...	ORPHA:163966
Trisomy 13	Abnormal eyelash morphology, Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Abnormality of...	ORPHA:3378
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl...	ORPHA:2020
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cryptorchidism,...	OMIM:605822
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Shoulder dislocation, A...	ORPHA:536532
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Tr...	ORPHA:84
Cockayne Syndrome Type 2	Hepatomegaly, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadi...	ORPHA:90322
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis, Cryptorchidism, Micropenis, Decreased testicular size	OMIM:615433
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Short long bone, M...	OMIM:614524
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Toe syndactyly...	OMIM:619234
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Cryptorchidism, Humerorad...	ORPHA:3404
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Vesicou...	ORPHA:857
Ataxia-Telangiectasia	Diabetes mellitus, Short stature, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocyto...	OMIM:208900
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S...	OMIM:602535
Tsh-Secreting Pituitary Adenoma	Osteopenia, Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Femal...	ORPHA:91347
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Functiona...	ORPHA:391487
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Toe syndactyly, Hypospadias, Inguinal hernia, Tapered finger, Cryptorchidism, Oste...	ORPHA:459070
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Sandal gap, Tapered finger, Kyphosis, Synophrys, Low anterior ha...	OMIM:617061
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,...	ORPHA:77293
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Hyperca...	OMIM:239200
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Arachnodactyly, Sandal gap, Congenital diaphragmatic ...	OMIM:617602
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t...	ORPHA:420794
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:216400
Distal 22Q11.2 Microdeletion Syndrome	Recurrent urinary tract infections, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Bowi...	ORPHA:261330
Charge Syndrome	Hemivertebrae, Hand monodactyly, Micropenis, Aplasia/Hypoplasia of the thymus, Hypoplasia of the ...	OMIM:214800
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala...	OMIM:259100
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Prominent fingertip pads, Vesic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Prominent fingertip pads, Vesic...	ORPHA:363958
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Cryptorchidism, Short toe, Gen...	OMIM:139210
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dislocation, Osteo...	OMIM:182250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Synophrys, Flexion contrac...	OMIM:619503
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Hypospadias, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidis...	OMIM:309580
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t...	OMIM:601356
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ad...	ORPHA:861
Meckel Syndrome, Type 1	Short neck, Asplenia, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plate, Cry...	OMIM:249000
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, White hair, Reduced bone mineral density, Fine hair...	ORPHA:935
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Hypospadias, Death in infancy, Hypoplast...	ORPHA:7
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Long eyelashes,...	ORPHA:79329
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Renal agenesis, Blo...	OMIM:306955
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Aplasia of the thymus	ORPHA:3004
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Inguinal hernia, Sparse scalp hair, Hypospadias, Overlapping toe, Sparse eyebr...	ORPHA:464738
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho...	ORPHA:2050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Irre...	ORPHA:99646
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Growth delay, Hypoplasia of the thymus, Umbilical hernia	OMIM:613177
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Hypospadias...	ORPHA:2588
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot, Hip dysplasia,...	ORPHA:500055
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Abnormality of the urinary sys...	ORPHA:702
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, S...	ORPHA:1507
Castleman Disease	Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediasti...	ORPHA:160
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Fraser Syndrome	Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, T...	ORPHA:2052
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal...	ORPHA:2062
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Osteoporosis, Abnormal urine potassium concentration, Decreas...	ORPHA:168558
Digeorge Syndrome	Short stature, Cholelithiasis, Parathyroid agenesis, Decreased circulating parathyroid hormone le...	OMIM:188400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ...	ORPHA:258
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Osteoporosis, Abnormal urine potassium concentration, Decreas...	ORPHA:289548
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Cryptorchidism, Renal hypoplasia, Short foot, Short palm, Clin...	ORPHA:264200
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidi...	ORPHA:261250
Cerebrotendinous Xanthomatosis	Cholelithiasis, Tendon xanthomatosis, Osteoporosis, Lower limb muscle weakness	OMIM:213700
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Macro...	ORPHA:79107
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, White hair, Reduced bone mineral density, Abnormal hi...	ORPHA:2720
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Hepatic steatosis, Small for gestat...	OMIM:613658
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il...	OMIM:169550
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Abnormal h...	ORPHA:3353
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absent ey...	OMIM:219000
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calcification of t...	OMIM:271665
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Short neck, ...	ORPHA:2347
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Accessory ...	OMIM:194190
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Alexander Disease	Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:58
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Knee osteoarthritis, Irregular femoral...	OMIM:154780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Uterine prolapse, Cryptorchidism, Osteoporosis, Nephrolithiasis, Hip dy...	ORPHA:438213
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility	ORPHA:244
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism, Kyphosis, Vacuolated lymphocy...	OMIM:208400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra...	OMIM:603387
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Asplenia, Renal hypoplasia, Abdom...	OMIM:270100
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Small for gestational age, Hypospadias, Unilateral re...	ORPHA:464306
Micro Syndrome	Hypoplasia of penis, Joint stiffness, Kyphosis, Cryptorchidism, Abnormal localization of kidney, ...	ORPHA:2510
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc...	OMIM:112240
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, 2-...	ORPHA:404440
Cystic Fibrosis	Osteopenia, Elevated hepatic transaminase, Osteoporosis, Nephrolithiasis, Abnormality of the live...	ORPHA:586
Trisomy 9P	Sacral dimple, Hypoplastic fingernail, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dys...	ORPHA:236
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Cryptorchidism, Synophrys, Obesity...	OMIM:616078
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Red...	ORPHA:370959
17Q11 Microdeletion Syndrome	Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Renovascula...	ORPHA:97685
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint...	OMIM:615873
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Fontaine Progeroid Syndrome	Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coarse hair, Neon...	OMIM:612289
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Uterine prolapse, Arachnodactyly, C...	ORPHA:284984
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ...	ORPHA:2479
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs...	ORPHA:2273
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Cdags Syndrome	Sparse scalp hair, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rectourethral fistul...	OMIM:603116
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Synophrys, Prominent ...	OMIM:300966
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Broad distal phalanx of the ...	OMIM:619194
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Abnormal f...	ORPHA:744
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Kyphosco...	ORPHA:653
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena...	ORPHA:18
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis	OMIM:601152
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Atypical Rett Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	ORPHA:3095
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L...	OMIM:203500
Frontorhiny	Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Finger clinodac...	ORPHA:391474
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Annular pancreas, Abnormal vertebral morphology, Hydronephrosis	ORPHA:210122
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Hypospadias, Ankle flexion contracture,...	ORPHA:464311
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocyto...	ORPHA:1304
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Cachexia, Abnormal dental enamel mo...	ORPHA:828
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy...	ORPHA:288
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thu...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Hypertrichosis, Contracture of the proximal interphalangeal joint of ...	OMIM:618050
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract...	OMIM:608328
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Hypophosphaturia, Abnormality of hair ...	ORPHA:73223
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly...	ORPHA:521426
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, Contracture of...	OMIM:618223
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow,...	OMIM:617011
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Sacral dimple, Short neck, Kyphosis, Clinodactyly, Cryptorchidism, Mesom...	OMIM:616894
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ...	OMIM:277600
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, B...	OMIM:619244
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Eec Syndrome	Hypoplasia of the thymus, Anterior hypopituitarism, Short stature, Decreased response to growth h...	ORPHA:1896
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Scoliosis, Finger joi...	OMIM:618493
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Death in infancy, Femur fracture, Splenomegaly...	OMIM:612301
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Hip dysplasia, Limb-girdle muscular d...	OMIM:615356
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Large for g...	ORPHA:457359
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synophrys, Scoliosis...	OMIM:619557
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral...	OMIM:119600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join...	OMIM:617527
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scoliosis	OMIM:609008
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hai...	ORPHA:667
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Short foot, Scoliosis	OMIM:312750
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Ab...	ORPHA:818
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Hypospadias, Kyphosis, 2-3 toe syndactyly, Scoliosis, Sparse hair, Hydronephrosis	OMIM:616449
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Brachydactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Cr...	OMIM:610168
Microphthalmia, Syndromic 1	Syndactyly, Hydroureter, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasia/apla...	OMIM:309800
Pmm2-Cdg	Osteopenia, Joint laxity, Elevated hepatic transaminase, Multiple joint contractures, Proteinuria...	ORPHA:79318
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, P...	ORPHA:564
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Kyphosis, Cryptorchidism, Sp...	ORPHA:1724
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
De Sanctis-Cacchione Syndrome	Bilateral coxa valga, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation ...	OMIM:278800
Zttk Syndrome	Absent gallbladder, Curly hair, Broad eyebrow, Polyuria, Unilateral renal agenesis, Craniosynosto...	OMIM:617140
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Cryptorchidism, Renal ...	OMIM:607932
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the ey...	ORPHA:522077
Branchiooculofacial Syndrome	Proximal placement of thumb, Short neck, Renal cyst, Premature graying of hair, Sparse hair, Clin...	OMIM:113620
Ciliary Dyskinesia, Primary, 1	Asplenia, Absent outer dynein arms, Male infertility	OMIM:244400
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Death in childhood	OMIM:211530
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Patent ductus arteriosus, Short stature	OMIM:619657
Truncus Arteriosus	Intrauterine growth retardation, Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia...	ORPHA:3384
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Dilatation of the renal pelvis, Knee flexion contracture, Bilateral talipes equinovarus...	OMIM:619708
Iniencephaly	Omphalocele, Rhizomelia, Renal agenesis, Rocker bottom foot, Hyperlordosis, Congenital diaphragma...	ORPHA:63259
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Widow's peak, Renal cyst, Hip dysp...	OMIM:616975
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Hydroureter, Hypospadias, Diastasis recti, Asplenia, Dilatation of the renal pelvis,...	OMIM:265380
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal hernia, Short nail, Hypoplasia...	OMIM:278250
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Low anterior hairline, Limb hypertonia	OMIM:619909
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th...	ORPHA:83471
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Overlapping toe, Facial hypotonia, Sp...	OMIM:618371
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Radial deviation of finger, T...	OMIM:609944
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse...	OMIM:619727
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Joint hyperflexibility, Abnorm...	ORPHA:77301
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Paraspinal muscle hypertrophy	ORPHA:3198
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha...	OMIM:216340
Acromegaly	Abnormal fingernail morphology, Dysuria, Macrodactyly, Tapered finger, Dysmenorrhea, Kyphosis, Os...	ORPHA:963
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Neurofibromatosis Type 1	Abnormal hair quantity, Recurrent fractures, Abnormality of the upper urinary tract, Joint stiffn...	ORPHA:636
Cowden Syndrome 1	Kyphosis, Hydrocele testis, Scoliosis, Lymphopenia, Subcutaneous lipoma	OMIM:158350
Somatomammotropinoma	Abnormal fingernail morphology, Macrodactyly, Dysuria, Tapered finger, Dysmenorrhea, Kyphosis, Os...	ORPHA:314769
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Wiedemann-Rautenstrauch Syndrome	Short stature, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Intr...	OMIM:264090
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Arachnodactyl...	ORPHA:500150
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal tibia morphology, Abnormal rena...	ORPHA:363700
15Q14 Microdeletion Syndrome	Kyphosis, Inguinal hernia, Scoliosis	ORPHA:261190
Orofaciodigital Syndrome Iii	Hyperconvex nail, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Hypospadias, Tarsal synostosis, Aplastic clavicle, Abnormal dent...	ORPHA:85199
Feingold Syndrome 1	Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas	OMIM:164280
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral ref...	ORPHA:261537
Atelis Syndrome 2	Sacral dimple, Kyphosis, Anemia, Clinodactyly, Thrombocytopenia	OMIM:620185
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morphology, ...	ORPHA:821
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral ref...	ORPHA:2152
Cowden Syndrome	Abnormal penis morphology, Abnormality of the kidney, Kyphosis, Bone cyst, Macroglossia, Renal ce...	ORPHA:201
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Highly...	OMIM:303600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Small for gestational age, Fail...	ORPHA:268261
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, Cryptorchidism, 2-3 toe syn...	OMIM:300960
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Orofaciodigital Syndrome Xiv	Broad hallux, Epispadias, Postaxial hand polydactyly, Cryptorchidism, Preaxial polydactyly, Aplas...	OMIM:615948
Cowden Syndrome 5	Hydrocele testis, Kyphosis, Subcutaneous lipoma, Scoliosis	OMIM:615108
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, Cryptorchidism, 2-3 toe syn...	ORPHA:401973
Cowden Syndrome 6	Hydrocele testis, Kyphosis, Subcutaneous lipoma, Scoliosis	OMIM:615109
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral ref...	ORPHA:261552
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Synophrys, Abnormal curvature of the vertebral column, Micropenis, Hepatic steatosis, ...	OMIM:619475
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of th...	ORPHA:64
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Hypoplastic pelvis	OMIM:273395
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Absent nipple, Short stature, Aplasia of the thymus, Congenital hypothyroidism, H...	OMIM:620186
Ramon Syndrome	Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Hallux valgus, Kyphoscoliosis, Kyphosis, Cryptorchidism, Left ventricular noncompac...	OMIM:300967
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Kyphosis, Clinodactyly of the 5th finger, Tracheo...	ORPHA:1393
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Viss Syndrome	Generalized joint laxity, Joint laxity, Long toe, Alopecia, Arachnodactyly, Scoliosis, Umbilical ...	OMIM:619472
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Rett Syndrome, Congenital Variant	Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors...	ORPHA:171629
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Distichiasis, Cellulitis	OMIM:153400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Urinary incontinence, Scoliosis	OMIM:619482

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 Arhgap1

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 Arhgap1.

There are 11 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Subcellular mRNA localization and local translation of Arhgap11a in radial glial progenitors regulates cortical development.	Neuron (March 2023)	Arhgap11a^em1(IMPC)J	36924763
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Arhgap17^{tm1b(EUCOMM)Wtsi}	PMC7263671
YAP and the RhoC regulator ARHGAP18, are required to mediate flow-dependent endothelial cell alignment.	Cell communication and signaling : CCS (February 2020)	Arhgap18^{tm1a(KOMP)Wtsi}	PMC6998144
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Arhgap17^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Arhgap17^{tm1b(EUCOMM)Wtsi} Arhgap18^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Arhgap17^{tm1b(EUCOMM)Wtsi} Arhgap18^{tm1a(KOMP)Wtsi}	PMC6459510
ARHGAP18: A Flow-Responsive Gene That Regulates Endothelial Cell Alignment and Protects Against Atherosclerosis.	Journal of the American Heart Association (January 2019)	Arhgap18^{tm1a(KOMP)Wtsi}	PMC6497359
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Arhgap17^{tm1b(EUCOMM)Wtsi}	PMC5827107
ARHGAP18 Protects Against Thoracic Aortic Aneurysm Formation by Mitigating the Synthetic and Proinflammatory Smooth Muscle Cell Phenotype.	Circulation research (July 2017)	Arhgap18^{tm1a(KOMP)Wtsi}	28701309
The RhoGAP protein ARHGAP18/SENEX localizes to microtubules and regulates their stability in endothelial cells.	Molecular biology of the cell (March 2017)	Arhgap18^{tm1a(KOMP)Wtsi}	PMC5391183
ARHGAP18: an endogenous inhibitor of angiogenesis, limiting tip formation and stabilizing junctions.	Small GTPases (January 2014)	Arhgap18^{tm1a(KOMP)Wtsi}	PMC4601187

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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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