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Gene: Pgap4 MGI:1914313

Gene Summary

Name:

post-GPI attachment to proteins GalNAc transferase 4

Synonyms:

9330170P15Rik, Tmem246, 2810432L12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

No results meet the p-value threshold

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Viewing: all phenotypes

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Viewing: all phenotypes

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 Pgap4 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 Pgap4 (0 diseases)
Human diseases predicted to be associated with Pgap4 (730 diseases)

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

The table below shows human diseases predicted to be associated to Pgap4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis,...	OMIM:241500
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Crani...	ORPHA:436
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu varum, Osteolysis,...	ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the vertebral column, Hypercalcemia, Coxa valga	OMIM:191420
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Infantile Myofibromatosis	Hypercalcemia, Abnormal thorax morphology, Bone cyst, Limitation of joint mobility, Osteolysis, A...	ORPHA:2591
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia...	OMIM:156400
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C...	ORPHA:3268
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ...	ORPHA:289157
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, A...	OMIM:615883
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th...	OMIM:620076
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Kenny-Caffey Syndrome, Type 1	Short palm, Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone,...	OMIM:244460
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Confusion, Chronic...	ORPHA:36913
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Hyperlordosis, Thoracic kyphosis, Hypocalcemia, Short 5th f...	ORPHA:557003
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Elevated circulating creatine kinase concentration, First degree atrioventricular ...	OMIM:310300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis	OMIM:614732
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of thumb, Symphalangis...	ORPHA:628
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Micrognathia, Pectus excavatum, Unilateral radial aplasia, Tapered fin...	ORPHA:476126
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ...	OMIM:607143
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,...	OMIM:271650
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke...	OMIM:618440
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ...	ORPHA:356961
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c...	OMIM:241530
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, S...	OMIM:601559
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin...	OMIM:259440
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Mucopolysaccharidosis Type 4	Short neck, Reduced bone mineral density, Pectus carinatum, Hernia, Abnormal dental enamel morpho...	ORPHA:582
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density, Hypocalcemia, Cognitive impairment, Failure to thrive	ORPHA:172
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Rhabdoid Tumor	Hypercalcemia, Weight loss, Anemia, Hypertension, Irritability, Internal hemorrhage, Thrombocytop...	ORPHA:69077
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral...	ORPHA:175
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler...	OMIM:618476
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyp...	OMIM:184250
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infection...	ORPHA:2484
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ...	OMIM:310200
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short tho...	ORPHA:93298
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Hypophosphatemia, Hypophosphatemic rickets, Rachitic rosary	OMIM:612089
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurr...	OMIM:602271
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib ...	ORPHA:1988
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Failure to thrive, H...	ORPHA:199299
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Ob...	OMIM:618395
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Cho...	OMIM:600740
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Mesomelic Dysplasia, Kantaputra Type	Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity, Hyperphosphatemia, Hypocal...	OMIM:612462
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bo...	OMIM:602111
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Endove Syndrome, Limb-Only Type	Neonatal sepsis, Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate sho...	OMIM:619217
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:94080
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Abnormal enchondral ossi...	ORPHA:93299
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Missing ribs, Micrognathia, Absent thumb, Humeroradial synostosis, ...	OMIM:251230
Pseudohypoparathyroidism Type 1C	Short neck, Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thum...	ORPHA:79444
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Progress...	ORPHA:251004
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morpho...	ORPHA:1797
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Decreased/absent ankle reflexes, Cardiomyopathy, Progressive gait ataxia, Progressi...	ORPHA:1177
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorpt...	ORPHA:94089
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypoca...	ORPHA:79443
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Meningitis, Hypereosinophilia, Chronic tinea infecti...	OMIM:212050
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid...	OMIM:277300
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog...	ORPHA:2097
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, Du...	OMIM:156550
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Tibial b...	ORPHA:96334
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert...	OMIM:608681
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib morphol...	ORPHA:1486
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent f...	OMIM:616229
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Splenomegaly, Anemia, Narrow chest, Hypophosphate...	OMIM:239200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, T...	OMIM:617952
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-sha...	OMIM:615633
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Severe varicella zoster infection,...	ORPHA:36234
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared...	OMIM:616300
Myofibrillar Myopathy 10	Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos...	OMIM:619040
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract ...	OMIM:252930
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia...	ORPHA:89937
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract...	OMIM:252900
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Elevated circulating creatine kinase concentration, Limited elbow...	ORPHA:268
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatem...	OMIM:103580
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Hypop...	OMIM:602361
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Pectus excavatum...	ORPHA:369837
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphol...	ORPHA:64755
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly...	ORPHA:583
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Generaliz...	OMIM:612526
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern...	ORPHA:1488
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Joint stiffness, Flat capital femoral ...	OMIM:252605
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp...	OMIM:617925
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Scarring, Abnormality of subcutaneous fat tissue, Osteomalacia, Femo...	ORPHA:1901
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Right axis deviation, Elevated jugular venous pressure, Elevated circulating ...	OMIM:255160
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea...	OMIM:616897
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Progressive neurologic deterioration, Joint stiffness, Splenomegaly, Recurrent up...	OMIM:252920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Small Cell Carcinoma Of The Bladder	Recurrent urinary tract infections, Hypercalcemia	ORPHA:284400
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Weight loss	ORPHA:97289
Sanjad-Sakati Syndrome	Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy osteosclerosis, Micro...	ORPHA:2323
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Susceptibility to chickenpox, Narrow chest, Neut...	OMIM:250250
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydac...	OMIM:263520
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Recurrent bacterial infections, Hype...	OMIM:241410
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Osteomyelitis, Thrombocytopenia, Recurr...	ORPHA:47
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis...	ORPHA:2522
Mosaic Trisomy 14	Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Short neck, Abnormal rib morphology,...	ORPHA:1703
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Pro...	OMIM:170390
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,...	ORPHA:3082
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Iron defici...	ORPHA:93315
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath...	ORPHA:904
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect...	ORPHA:2911
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Neutrop...	ORPHA:2643
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co...	ORPHA:958
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones...	ORPHA:85184
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Rec...	OMIM:601005
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H...	ORPHA:95409
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ...	ORPHA:405
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Talipes e...	OMIM:620306
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivert...	ORPHA:2759
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Pectus excavatum, Micrognathia, Short neck, Hypocalcemia	ORPHA:1438
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:276621
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart...	ORPHA:247353
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Monosomy 13Q34	Pes planus, Hypercalcemia, Epistaxis, Micrognathia, Postaxial hand polydactyly, Obesity, Postaxia...	ORPHA:96168
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Rhizomel...	OMIM:611209
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosa...	OMIM:252600
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe...	ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Cln3 Disease	Ataxia, Vacuolated lymphocytes, Mental deterioration, Depression, Bradykinesia, T-wave inversion,...	ORPHA:228346
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina...	ORPHA:26793
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ...	ORPHA:2021
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Cranioectodermal Dysplasia 1	Narrow chest, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short toe, Short...	OMIM:218330
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Addison Disease	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Failure to thrive, Hypercalcemia, Thiam...	ORPHA:85138
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Infantile Systemic Hyalinosis	Osteopenia, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy...	ORPHA:309282
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondr...	ORPHA:143
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Bowing of the long bones, Recurrent fractures, Craniosynostosis...	ORPHA:667
Andersen-Tawil Syndrome	Joint laxity, Prolonged QT interval, Ventricular arrhythmia, Bidirectional ventricular ectopy, Mi...	ORPHA:37553
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Shortened QT interval, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:99880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f...	ORPHA:2180
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo...	OMIM:259720
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Prune Belly Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Congenital hip dislocation,...	ORPHA:2970
Rett Syndrome	Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Scoliosis, Truncal ataxia, Abnormal T-...	OMIM:312750
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Micrognat...	OMIM:617913
Multiple Endocrine Neoplasia Type 1	Short attention span, Hypercalcemia, Confusion, Hematemesis, Shortened QT interval, Osteolysis, I...	ORPHA:652
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi...	OMIM:211350
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Portal hypertensio...	OMIM:194050
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn...	ORPHA:666
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Iron deficiency anemia...	OMIM:212750
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:29072
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Recur...	OMIM:615707
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Micrognathia, Thrombocytopenia, Hyper...	OMIM:614857
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho...	ORPHA:2050
Hurler Syndrome	Abnormal clavicle morphology, Recurrent respiratory infections, Angina pectoris, Camptodactyly of...	ORPHA:93473
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Recurrent respiratory infections, Conjugated hyperbilirubinemia, Lateral ...	OMIM:208500
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Pectus carinatum, Narrow chest, Broad ribs, Jo...	OMIM:304150
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platys...	OMIM:616294
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Arachnodactyly, Pectus excavatum, Thin metacarpal cortices, Thin r...	ORPHA:2463
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Pu...	ORPHA:94093
Autosomal Dominant Hypocalcemia	Congestive heart failure, Reduced bone mineral density, Depression, Hyperphosphatemia, Hypocalcem...	ORPHA:428
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost...	OMIM:614008
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Thoracolumba...	OMIM:252500
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Joint stiffness, Short neck, Conges...	OMIM:230500
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Small for gestational age, Recurrent uri...	OMIM:613658
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln...	OMIM:200980
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal t...	ORPHA:1120
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi...	ORPHA:1329
Primary Intestinal Lymphangiectasia	Cryptococcal meningitis, Weight loss, Reduced proportion of CD4+ effector memory T cells, Opportu...	ORPHA:90362
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, ...	ORPHA:746
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca...	OMIM:182212
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte...	ORPHA:2234
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base...	OMIM:269300
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, ...	ORPHA:653
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Mucopolysaccharidosis, Type X	Aortic regurgitation, Irregular acetabular roof, Beaking of vertebral bodies, Spatulate ribs, Bro...	OMIM:619698
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, D...	OMIM:618265
Septopreoptic Holoprosencephaly	Short attention span, Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc...	OMIM:613686
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ...	ORPHA:3068
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy...	ORPHA:563
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive i...	ORPHA:37042
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Invasive parasitic infection, Increased circulating f...	ORPHA:158048
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Micrognathia, Coxa valga, Long fing...	OMIM:608149
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ...	OMIM:309350
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Akinesia, Micrognathia, Flexion contracture, Incre...	OMIM:253290
Aspergillosis	Osteomyelitis, Eosinophilia, Abnormal rib morphology, Unusual CNS infection, Abnormal long bone m...	ORPHA:1163
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate ribs, ...	OMIM:618188
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, He...	OMIM:224690
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Progressive neurologic deterioration, Flexion contracture, Atrioven...	ORPHA:581
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Missing ribs...	ORPHA:1834
Colchicine Poisoning	Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration	OMIM:607748
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Antley-Bixler Syndrome	Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ...	ORPHA:83
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypovolem...	ORPHA:173
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle...	OMIM:617895
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pect...	ORPHA:2215
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent viral infections, Ataxia, Recurrent ear infections, Hyperlordosis, Clinodac...	ORPHA:221139
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Rib fusion, Obesity, Choreoathet...	ORPHA:261197
Renpenning Syndrome	Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, ...	ORPHA:3242
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Scar...	ORPHA:797
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P...	OMIM:603671
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive	OMIM:211600
Lymphangiectasia, Intestinal	Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Joint...	OMIM:252940
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Lipoatrophy, Recurrent fractures, Micrognathia, Hyperextensibil...	OMIM:601812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke...	OMIM:611528
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia,...	OMIM:175500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Short neck, Large for gestational age, Hem...	OMIM:213980
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex...	OMIM:618150
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Friedreich Ataxia	Abnormal EKG, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Areflexia of lower limb...	OMIM:229300
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Cognitive im...	ORPHA:94125
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme...	OMIM:610682
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho...	OMIM:612921
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Increased susce...	OMIM:312150
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Recurrent herpes, Chronic ...	ORPHA:276
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea...	ORPHA:31826
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Micrognathia, Short neck, Splenomegaly, Postaxial hand polydactyly, Narrow chest...	OMIM:235255
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Thr...	ORPHA:466650
Cystinosis	Portal hypertension, Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Failure to thrive	ORPHA:213
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Failure to thrive, Capitate-hamate fusion, 2-3 toe cut...	OMIM:206920
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Decreased ...	OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:619752
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, R...	OMIM:243700
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Bradycar...	ORPHA:330001
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walkin...	ORPHA:99845
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib mor...	ORPHA:96061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anterior rib cuppin...	OMIM:102700
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Micrognath...	ORPHA:2785
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased ...	OMIM:619802
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Inguinal hernia, Prolonged QRS complex, Recurrent fractures, Do...	OMIM:611174
Glucagonoma	Gastrointestinal hemorrhage, Hypercalcemia, Acanthocytosis, Weight loss, Depression, Normochromic...	ORPHA:97280
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Fanconi Renotubular Syndrome 3	Bowing of the legs, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Plan...	OMIM:109400
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Abnormal thorax morphology, Ulnar deviated club hands, Fibular hypopla...	OMIM:164900
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Recurr...	OMIM:612301
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femor...	OMIM:617022
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Sotos Syndrome	Flexion contracture, Pedal edema, Abnormal vertebral morphology, Joint laxity, 2-3 toe syndactyly...	ORPHA:821
Familial Isolated Hypoparathyroidism	Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Telangiectasia of the skin, Micrognathia, Abnormal rib...	ORPHA:52
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Congestive heart failu...	OMIM:608328
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Decreased/absent ankle reflexes, Sepsis, Leuk...	ORPHA:443811
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Micrognathia, Short neck, Splenomegaly, Postaxial hand polydactyly, Hepatospleno...	ORPHA:1655
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Mitral regurgitat...	OMIM:277600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma...	ORPHA:1652
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th...	ORPHA:488434
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte...	ORPHA:79124
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg...	ORPHA:263508
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Sho...	OMIM:620369
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Hematochezia, Multiple lipomas, Lipoma	ORPHA:913
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Incontinentia Pigmenti	Abnormal hand morphology, Spina bifida occulta, Infectious encephalitis, Finger syndactyly, Abnor...	ORPHA:464
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Ataxia, Dysmetria, Telangiectasia, Hepatosplenomegaly, Polydactyly...	ORPHA:93400
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Vipoma	Hypercalcemia, Weight loss, Hematochezia, Hypokalemia, Normochromic anemia, Subcutaneous lipoma	ORPHA:97282
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Inguinal hernia, Failure to thrive, Camptodactyly of finger, Micrognathia, Pec...	ORPHA:2990
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca...	OMIM:613507
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Broad ribs, Abscess, Vasculitis, Vasosp...	ORPHA:228123
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Corneal scarrin...	OMIM:309000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia	OMIM:606407
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Subcutane...	ORPHA:97283
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Supernumerary ribs...	OMIM:619122
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Micrognathia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology, Abnor...	ORPHA:534
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Small for gestational age, Micrognathia, Pectus excavatum, Hype...	OMIM:234100
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Hypermagnesemia, Gout, Low-to-normal blood pressure, I...	ORPHA:358
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia, Joint stiffness, Abnor...	ORPHA:2588
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short ...	ORPHA:370930
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver...	OMIM:271520
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97278
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Ataxia, Rickets	OMIM:560000
Immunodeficiency 68	Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Septic arthritis, Ab...	OMIM:612260
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em...	ORPHA:70591
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Palmoplantar hyperhidrosis, Subcutaneous...	ORPHA:97261
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Abnormal vertebral morphology...	ORPHA:95699
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Tricuspid regurgitation, J...	OMIM:619127
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Increased...	OMIM:232300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:300257
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok...	OMIM:227810
Craniofacioskeletal Syndrome	Barrel-shaped chest, Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Shield ch...	OMIM:300712
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur m...	ORPHA:562
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Ver...	ORPHA:373
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Abnormal foot morphology, Abnormality of the spleen, Ab...	ORPHA:1666
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/...	ORPHA:1647
Hennekam Syndrome	Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, A...	ORPHA:2136
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B...	OMIM:300373
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Hypocalcemia, Arachnodactyly, Abnormal dental...	ORPHA:567
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom...	OMIM:615745
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly,...	OMIM:269860
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure to thrive	OMIM:607765
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea...	OMIM:610198
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Abnormality of the foot musculature, Thin ribs, Calf muscle hypertroph...	ORPHA:169189
Trisomy 1Q	Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con...	ORPHA:171430
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to...	ORPHA:2088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, Thrombocytopen...	ORPHA:163979
Velocardiofacial Syndrome	Inguinal hernia, Talipes, Recurrent infections, Emotional lability, Hypocalcemia, Umbilical hernia	OMIM:192430
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Failure to th...	OMIM:151050
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho...	ORPHA:1300
Liver Disease, Severe Congenital	Micrognathia, Sepsis, Abnormal left ventricular function, Leukopenia, Hypocalcemia, Lymphocytosis...	OMIM:619991
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Recurrent upper respiratory tract infections, H...	OMIM:618183
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Pectus excavatum, Flexion ...	ORPHA:254528
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Short attention span, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu v...	OMIM:301066
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma...	ORPHA:79303
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Thrombocytopenia, Hyper...	ORPHA:544482
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic...	ORPHA:887
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislocation, Fib...	OMIM:619297
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Recurrent ear infections, Spi...	ORPHA:217093
Pontine Tegmental Cap Dysplasia	Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Failure to thrive	OMIM:614688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Hypocalcemia, Short distal phalanx of finger	ORPHA:1563
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Small for gestational age, Cardiac conduction abnormality,...	ORPHA:699
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Flexion cont...	OMIM:619503
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Recurrent ear infections, Spi...	ORPHA:217085
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec...	ORPHA:231625
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive	ORPHA:3426
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal...	OMIM:269150
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Kbg Syndrome	Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl...	OMIM:148050
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Broad-based gait, Sandal gap, Short neck, Long fingers, Recurrent pneumonia, Cutane...	OMIM:620330
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal...	ORPHA:3015
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Subcutaneous lipoma	ORPHA:276152
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Confusion, Increased cir...	ORPHA:71212
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Inguinal hernia, Tapered toe, Recurrent ear infections, Tapered finger, Large for ...	ORPHA:544488
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Large for ges...	ORPHA:254519
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, 2-3 toe synd...	OMIM:139210
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse...	OMIM:619727
Cranioectodermal Dysplasia 2	Micrognathia, Short neck, Narrow chest, Joint laxity, Syndactyly, Rhizomelia, Short ribs, Hyperbi...	OMIM:613610
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular...	ORPHA:860
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg...	ORPHA:99413
Turner Syndrome	Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg...	ORPHA:99226
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or...	ORPHA:230
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st...	ORPHA:2519
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, R...	OMIM:304050
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Talipes c...	ORPHA:818
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Abnormal ...	ORPHA:411634
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Progressive neurologic deterioration, Splenomegaly, M...	OMIM:219800
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Large for gestational age, Plantar pits, Abnormal rib mor...	ORPHA:77301
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl...	ORPHA:50
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Isotretinoin-Like Syndrome	Inguinal hernia, Micrognathia, Hypocalcemia, Aortic valve stenosis, Lymphopenia	ORPHA:2306
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Decreased body weight, Flexion contracture, Thin ribs	OMIM:614833
Cardiac Diverticulum	Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, T...	ORPHA:1686
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Anemia, Cortical thickening of long bone diap...	ORPHA:93325
Dpagt1-Cdg	Prolonged QT interval, Arachnodactyly, Ataxia, Akinesia, Lipodystrophy, Emotional blunting, Inabi...	ORPHA:86309
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Tapered finger, Micrognathia, Short neck, Slender long b...	ORPHA:444072
Digeorge Syndrome	Pilonidal sinus, Inguinal hernia, Femoral hernia, Micrognathia, Thrombocytopenia, Splenomegaly, R...	OMIM:188400
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Thin ribs, Bradycardia, Lethargy, Thrombocytopenia	OMIM:617397
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphys...	OMIM:157800
Alternating Hemiplegia Of Childhood	Ataxia, Cardiac conduction abnormality, Progressive neurologic deterioration, Abnormal T-wave, Em...	ORPHA:2131
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t...	OMIM:214800
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Broad ribs, Myeloid leukem...	ORPHA:798
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, F...	ORPHA:411629
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi...	ORPHA:254534
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Abnormal rib ...	ORPHA:3404
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Failure to thrive in infancy, Micrognathia, Short neck, Upper limb undergr...	ORPHA:529962
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,...	ORPHA:980
Trisomy 18	Microretrognathia, Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexi...	ORPHA:3380
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Cardiac ...	ORPHA:466677
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial...	ORPHA:261112
Gitelman Syndrome	Prolonged QT interval, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circulating renin ...	OMIM:263800
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Micrognathia, Patellar aplasia, Abn...	ORPHA:2554
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Pseudoep...	OMIM:194190
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, M...	ORPHA:97360
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum...	OMIM:264090
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ...	ORPHA:79102
Hydrolethalus Syndrome 1	Omphalocele, Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Severe B lymphocytopenia, Micro...	ORPHA:83617
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese...	ORPHA:73224
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
African Trypanosomiasis	Abnormal EKG, Pericarditis, Akinesia, Myocarditis, Congestive heart failure, Splenomegaly, Hepato...	ORPHA:3385
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Zttk Syndrome	Aortic regurgitation, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, He...	OMIM:617140
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur...	ORPHA:3337
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Perianal...	OMIM:301074
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Elbow contracture, Campt...	OMIM:208150
Woodhouse-Sakati Syndrome	Osteopenia, Hyperlipidemia, Choreoathetosis, Mental deterioration, Abnormal T-wave	ORPHA:3464
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Transient ischemic attack, Osteomalacia, Left ventricular systolic dysfu...	ORPHA:51608
Fryns Syndrome	Microretrognathia, Omphalocele, Rocker bottom foot, Proximal placement of thumb, Short neck, Larg...	OMIM:229850
Tibial Hemimelia	Absent tibia	OMIM:275220
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia	ORPHA:309031
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Abnor...	ORPHA:1606
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ...	ORPHA:2907
Friedreich Ataxia 2	Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe...	OMIM:601992
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur...	ORPHA:2908
Charge Syndrome	Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormal...	ORPHA:138
Orofaciodigital Syndrome Type 4	Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Micromelia, Microgn...	ORPHA:2753
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Steinert Myotonic Dystrophy	Short attention span, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfu...	ORPHA:273
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Sudden cardiac death,...	ORPHA:991
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholes...	OMIM:118450
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Transient ischemic attack, Sagittal craniosynostosis, Absen...	ORPHA:500150
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-...	OMIM:617088
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing...	ORPHA:672
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Abnormal foot morphology,...	ORPHA:857
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Congestive heart failure, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of pr...	ORPHA:444077
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Noncompaction cardiomyopathy, Camptodactyly of finger, Metatarsus adductus, Dil...	OMIM:607872
Congenital Heart Defects, Multiple Types, 9	Pectus excavatum, Pulmonic stenosis, Left axis deviation	OMIM:620294
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Portal hyperte...	OMIM:243800
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia	OMIM:241080

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 Pgap4

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 Pgap4.

No publications found that use IMPC mice or data for Pgap4.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pgap4^{tm378554(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pgap4^em1(IMPC)Bay	Whole-gene deletion	Mice

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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