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Gene: Gpc6 MGI:1346322

Gene Summary

Name:

glypican 6

Synonyms:

6720429C22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating alanine transaminase level		Gpc6^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	1.27×10^-05
increased circulating calcium level		Gpc6^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	6.46×10^-05

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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.

Legacy Phenotype Associated Images

Gpc6^{tm2a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 54 images

Gpc6^{tm2a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Gpc6 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 Gpc6 (2 diseases)
Human diseases predicted to be associated with Gpc6 (704 diseases)

The table below shows human diseases associated to Gpc6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Omodysplasia 1		Short humerus, Increased fibular diameter, Rhizomelia, Depressed nasal bridge, Micrognathia, Limi...	OMIM:258315
Autosomal Recessive Omodysplasia		Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosis, Micromelia, Mi...	ORPHA:93329

The table below shows human diseases predicted to be associated to Gpc6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Adamantinoma	Hypercalcemia	ORPHA:55881
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L...	OMIM:118651
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Boomerang Dysplasia	Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti...	OMIM:112310
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nas...	OMIM:201170
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p...	OMIM:300484
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Lower limb asymmetry, Non-midline cleft lip, Hip dislocation, Depressed nasal ridge, Absent nasal...	ORPHA:2003
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat...	OMIM:164745
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen...	OMIM:210600
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad na...	OMIM:258865
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Orofa...	ORPHA:1988
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Depressed nasal b...	ORPHA:140
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma...	ORPHA:2639
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
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
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Pes planus, Wide nose, Abnormal nasal bone morphology, Choanal atresia,...	ORPHA:521308
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl...	ORPHA:1106
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial ...	OMIM:251230
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Bulbo...	OMIM:102370
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Saul-Wilson Syndrome	Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co...	OMIM:618150
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Microcephaly, Abs...	OMIM:610828
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph...	ORPHA:294975
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Multiple...	OMIM:616897
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre...	OMIM:114290
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia	OMIM:601357
Hypochondroplasia	Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ...	OMIM:146000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Otoonychoperoneal Syndrome	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Hamartoma of tongue, Esophageal diver...	OMIM:617925
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal sept...	OMIM:302950
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou...	ORPHA:2378
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ...	ORPHA:1837
Achondroplasia	Death in infancy, Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, B...	OMIM:100800
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi...	ORPHA:2879
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Kinsship Syndrome	Osteopenia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Dislo...	OMIM:619297
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Depressed nasal bridge, Micrognathia, Limi...	OMIM:258315
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate, Talipes equinovarus, Arthrogryposis...	OMIM:616570
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Premature ost...	OMIM:184840
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho...	ORPHA:90650
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a...	OMIM:619941
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula...	OMIM:609325
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Broad nasal tip, Microcephaly, Cleft lip, Cleft palate, Lar...	OMIM:300263
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Bent Bone Dysplasia Syndrome 2	Osteopenia, Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Depressed nasal br...	OMIM:620076
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Joint stiffness, Micrognathia, Radial deviation of th...	ORPHA:1388
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Microdontia, Anodontia, Joint laxity, Rhiz...	OMIM:218330
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, High palate, Prenatal deat...	OMIM:618393
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the hum...	ORPHA:3098
Polyrrhinia	Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology, Orofacial...	ORPHA:141091
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Coxa valga, Carious teeth, Micrognathia, Pierre-R...	OMIM:618363
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s...	OMIM:208500
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ...	OMIM:184260
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Thin vermilion border...	ORPHA:2631
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand, Cleft palate	OMIM:300261
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo...	ORPHA:916
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Limitation of joint mobility, Cleft palate, ...	ORPHA:376
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft...	OMIM:612913
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Wide nose, Hypoplas...	OMIM:607143
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Relative macrocephal...	OMIM:613848
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Cl...	ORPHA:93946
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, La...	OMIM:256050
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres...	ORPHA:1248
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat...	OMIM:241800
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit...	OMIM:616145
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis o...	ORPHA:2557
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Ge...	OMIM:615777
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nares, Micrognathia, Prominent ...	ORPHA:251019
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal...	OMIM:620269
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide...	ORPHA:93357
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Preaxial polydactyly, Preaxial foo...	OMIM:603671
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase...	OMIM:618761
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa...	OMIM:618188
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Iliac crest serration, Anteverted nares, Micromelia, Depressed nasal...	OMIM:613320
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot	OMIM:183700
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Wide nasal bridge	OMIM:614870
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p...	OMIM:614524
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
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
Xylt1-Cdg	Joint laxity, Pes planus, Relative macrocephaly, Coxa valga, Microcephaly, Flared metaphysis, Cle...	ORPHA:370930
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy...	OMIM:276820
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,...	OMIM:619184
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Micrognathia,...	OMIM:215150
Hypophosphatasia	Hypercalcemia	ORPHA:436
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Narro...	ORPHA:163654
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Micr...	OMIM:619489
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Small hand, Fibular hypop...	ORPHA:444077
Temple Syndrome	Relative macrocephaly, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion...	OMIM:616222
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi...	ORPHA:163649
Holoprosencephaly 2	Aplasia of the nasal bone, Proboscis, Microcephaly, Submucous cleft hard palate, Absent nasal sep...	OMIM:157170
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Camptodactyly o...	ORPHA:628
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphysis morphology, Long philtru...	ORPHA:90653
Rapadilino Syndrome	Slender nose, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft palate,...	OMIM:266280
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Microcephaly, Genu valgum, Wide mouth, Macrocephaly, Joint h...	OMIM:617798
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop...	OMIM:611717
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of...	ORPHA:1234
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b...	OMIM:615716
Kniest Dysplasia	Hip contracture, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Abnormal cartilag...	OMIM:156550
Stickler Syndrome, Type Ii	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers, High, narro...	OMIM:604841
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Microcephal...	OMIM:600325
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Mi...	ORPHA:1865
Achondroplasia	Short nasal bridge, Rhizomelia, Anteverted nares, Depressed nasal bridge, Hip joint hypermobility...	ORPHA:15
Dysspondyloenchondromatosis	Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu ...	ORPHA:85198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Microtriplication 11Q24.1	Wide nose, Microcephaly, Metatarsus adductus, Limitation of joint mobility, Small hand, Cleft pal...	ORPHA:289522
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contracture, Tibial bowing, Shor...	ORPHA:96334
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ...	ORPHA:96184
Shox-Related Short Stature	Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, Lower lim...	ORPHA:314795
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Microcephaly, Cleft palate, Shor...	OMIM:181180
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod...	OMIM:184250
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Micrognathia, Joint stiffness, High, narrow palate, Underdeveloped nasal alae, Microcephaly, Clef...	ORPHA:2516
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Tapered finger, Microcephaly, Cleft lip, Narrow mouth, Small hand, Cleft ...	OMIM:618089
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Downturned c...	ORPHA:217017
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microcephaly, Wide nasal bridge, Cleft...	ORPHA:251056
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Microcephaly, Underdeveloped nasal alae, Cleft palate, Short distal phalanx of finger	OMIM:601355
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Aarskog-Scott Syndrome	Genu recurvatum, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnormal vertebral ...	ORPHA:915
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo...	ORPHA:2635
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:1803
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof...	OMIM:616331
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tombstone-shaped pro...	OMIM:108721
Distal Deletion 10P	Joint stiffness, Micrognathia, Microcephaly, Non-midline cleft lip, Wide nasal bridge, Cleft pala...	ORPHA:1580
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Abnormal e...	ORPHA:250984
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly	OMIM:619981
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Enamel hypopl...	ORPHA:139474
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P...	OMIM:210710
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morp...	ORPHA:166100
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Wide nasal bridge, Short long b...	OMIM:224410
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro...	ORPHA:2633
Microphthalmia, Syndromic 8	Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc...	OMIM:601349
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Abnormal foot morphology, Oligodontia, Aplasia/Hypoplasia of the na...	ORPHA:2095
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Microcephaly, Pierre-Robin sequence, Small hand, ...	OMIM:619980
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Cleft palate, Intraute...	ORPHA:2145
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Mic...	OMIM:613823
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Micr...	OMIM:615583
Hartsfield Syndrome	Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasi...	ORPHA:2117
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge...	ORPHA:1252
Tetraploidy	Micrognathia, Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,...	ORPHA:3305
Mohr Syndrome	Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty...	OMIM:252100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial b...	ORPHA:251028
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly	OMIM:614838
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e...	ORPHA:485
Oculoauriculofrontonasal Syndrome	Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Microcephaly, Cle...	ORPHA:398156
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Rhizomelia, Anteverted nares, Squared iliac ...	OMIM:611209
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Microphthalmia, Syndromic 12	Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft palate, Neonatal ...	OMIM:615524
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Cleidocranial Dysplasia	Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodacty...	ORPHA:1452
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Humeroradial synostosis, H...	ORPHA:3404
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft palate, High p...	ORPHA:1784
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Microcephaly, Metaphyseal w...	OMIM:263210
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig...	OMIM:612313
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Spina bifida occul...	ORPHA:949
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger	OMIM:242500
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Microcephaly, Vel...	OMIM:614701
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Patellar hypoplasia, Wide mouth, Talipes equi...	ORPHA:1827
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu...	OMIM:614815
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol...	OMIM:614091
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost...	OMIM:613451
Fetal Hydantoin Syndrome	Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triph...	ORPHA:1912
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Broad nasal tip, Microcephaly, 2-3 toe syndactyly, Cleft palate, S...	OMIM:239800
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Wide nose, Depressed nasal bridge, Microcephaly, Bulbous nose, Thick lower lip verm...	OMIM:610442
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte...	ORPHA:1512
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Talipes equinovarus, Death in infancy	OMIM:618845
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger clinodactyly, Clin...	ORPHA:508488
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi...	OMIM:615065
Meckel Syndrome, Type 8	Cleft upper lip, Microcephaly, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinova...	OMIM:613885
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Zimmermann-Laband Syndrome 2	Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Macroglossia, Thi...	OMIM:616455
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Abnormality of the lower limb, No...	ORPHA:245
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Burn-Mckeown Syndrome	Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Underdeveloped nasal alae...	OMIM:608572
Split-Hand/Foot Malformation 3	Microretrognathia, Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Microcephaly, Wide nasal bridge, Cleft palate, Macrocephaly, Intr...	ORPHA:1797
Larsen-Like Syndrome	Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent nasal bridge, Rad...	OMIM:608545
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Anosmia, Osteoporosis, Cleft palate, Genu valgum	OMIM:614880
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin...	ORPHA:364577
Tibial Hemimelia	Absent tibia	OMIM:275220
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, B...	ORPHA:2521
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Opsismodysplasia	Short metacarpal, Rhizomelia, Anteverted nares, Depressed nasal bridge, Hypoplasia of the odontoi...	OMIM:258480
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Geleophysic Dysplasia 1	Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S...	OMIM:231050
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Dec...	OMIM:114300
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous s...	OMIM:600920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Short metatarsal, Oligodontia, High palate, Short palm, Clinodacty...	OMIM:170390
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High pala...	OMIM:617022
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal...	ORPHA:198
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Thin ver...	OMIM:602557
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal...	ORPHA:2063
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Prominent nasal bridge, Tapered finger, Prominent nose, Microcephaly, Tooth malposition, Wide mou...	OMIM:619576
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Joint stiffness, Micrognathia, Microcephaly, Non-midl...	ORPHA:1915
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:277440
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Maternal Phenylketonuria	Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Microcepha...	ORPHA:2209
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosis, Micromelia, Mi...	ORPHA:93329
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep ph...	ORPHA:251038
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Joint...	OMIM:602196
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal ...	OMIM:612938
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs	OMIM:114000
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Anteverted ...	OMIM:264090
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ...	OMIM:614749
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Prominent nose, Long nose, B...	ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bones, Cleft palate...	ORPHA:503
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ...	ORPHA:85165
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Arachnodactyly, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal...	ORPHA:436003
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Broad nasal tip, Metatarsus adductus...	OMIM:272950
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly...	OMIM:147950
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Microcephaly, Flexion contracture, Orofacial cleft, Polydactyly	ORPHA:17
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Biparietal narro...	ORPHA:935
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Non-midline cleft lip, Wide nasal bridge,...	ORPHA:1752
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radi...	OMIM:311900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip	ORPHA:2476
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robin sequ...	ORPHA:1358
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, High palate, Widely...	OMIM:303600
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Esophageal atresia, Trac...	OMIM:619859
Pheochromocytoma	Hypercalcemia	OMIM:171300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Cleft...	OMIM:618469
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Raine Syndrome	Micromelia, Micrognathia, High palate, Choanal stenosis, Neonatal death, Microdontia, Long hallux...	OMIM:259775
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Orof...	OMIM:615630
Vexas Syndrome	Arthritis, Nasal chondritis, Chondritis of pinna	OMIM:301054
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Microcepha...	ORPHA:1908
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,...	OMIM:616738
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Micrognathia, Flexion contracture, Bifid uvula, Dislocated radial he...	OMIM:130070
Genitopalatocardiac Syndrome	Micrognathia, Microcephaly, Postaxial hand polydactyly, Non-midline cleft lip, Wide nasal bridge,...	ORPHA:2075
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala...	OMIM:616835
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Microcephaly, Short femur, Tapered finger	OMIM:618367
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ...	ORPHA:93315
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,...	OMIM:269860
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Synda...	OMIM:616894
Distal Duplication 17Q	Hallux valgus, Joint laxity, Thin upper lip vermilion, Overlapping toe, Arachnodactyly, Rhizomeli...	ORPHA:3379
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Anteve...	OMIM:607812
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Ulnar deviation ...	ORPHA:261330
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Microcephaly, Preax...	OMIM:610536
Pyknoachondrogenesis	Abnormal intramembranous ossification, Micromelia, Short iliac bones, Abnormal iliac wing morphol...	ORPHA:3003
Anophthalmia Plus Syndrome	Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ...	ORPHA:1104
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Slender long bone, Intrauterine growth retardation	ORPHA:96181
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decreased calvarial ossification...	OMIM:618265
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty...	OMIM:224690
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Long ...	OMIM:615349
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ...	ORPHA:3455
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Cleft...	OMIM:603736
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ...	OMIM:272460
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid...	ORPHA:2021
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Depressed nasal bridge, Fle...	OMIM:619479
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Clef...	ORPHA:2008
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Microcephaly, Depressed nasa...	OMIM:616038
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol...	OMIM:612651
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C...	OMIM:263750
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Anteverted nares, Dep...	OMIM:249420
Meckel Syndrome, Type 4	Bowing of the long bones, Microcephaly, Postaxial hand polydactyly, Cleft palate, Intrauterine gr...	OMIM:611134
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Craniosynostosis, Postaxial polydactyly, Proboscis, Pos...	OMIM:605627
Cleft Lip And Alveolus	Abnormal nasal morphology, Abnormal nasal septum morphology, Hypodontia, Lip pit	ORPHA:141291
3Mc Syndrome 2	Prominent nasal bridge, Limited elbow movement, Craniosynostosis, Cleft upper lip, Hip dislocatio...	OMIM:265050
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Pes planus, Narrow nasal bridge, Dental crowding, Relative macroceph...	OMIM:300967
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Microcephaly, Cleft palate, Femoral bowing, Flared lower limb meta...	OMIM:616462
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic vertebral bodies, Macro...	ORPHA:79255
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Rothmund-Thomson Syndrome Type 2	Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Ge...	ORPHA:221016
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Joint stiffness, Micrognat...	OMIM:618820
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Microcephaly, Prea...	OMIM:243605
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Pes planus, Choanal atresia, Micrognathia, Microcephaly, Hypoplastic fr...	OMIM:300712
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Micrognathia, Prominent nose, High...	OMIM:180849
Larsen Syndrome	Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical vertebrae, Joint l...	OMIM:150250
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognat...	OMIM:309350
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Oculo-Palato-Cerebral Syndrome	Microcephaly, High, narrow palate, Small hand, Cleft palate, Short foot, Intrauterine growth reta...	ORPHA:2714
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Myhre Syndrome	Brachydactyly, Joint stiffness, Narrow mouth, Submucous cleft hard palate, Gingival cleft, Cleft ...	ORPHA:2588
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide mouth, Oligodontia, Acet...	OMIM:201180
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Clinodactyly, Downturned corners of mouth, Short philtrum, Widely spaced teeth, ...	OMIM:301044
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Timothy Syndrome	Hypocalcemia	OMIM:601005
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Vertebral fusion, Cleft lip, Short toe, 2-3 toe syndactyl...	OMIM:139210
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Familial Visceral Myopathy	Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Micrognathia, An...	ORPHA:2604
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Micrognathia, Prominent nose, Cleft...	OMIM:301022
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent crus of helix, Small hand, Wide...	ORPHA:1449
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Micrognathia, High, narrow palate, ...	ORPHA:2554
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
C Syndrome	Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Abno...	ORPHA:1308
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef...	OMIM:301091
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Alg9-Cdg	Villous atrophy, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uv...	ORPHA:79328
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Ppoma	Hypercalcemia	ORPHA:97278
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal ...	OMIM:117650
Ramos-Arroyo Syndrome	Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious teeth, Xerostomia, Conca...	ORPHA:1051
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Somatostatinoma	Hypercalcemia	ORPHA:97283
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Cerebrocostomandibular Syndrome	Death in infancy, Tracheomalacia, Micrognathia, Microcephaly, Cleft palate, Glossoptosis, Clinoda...	ORPHA:1393
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Grfoma	Hypercalcemia	ORPHA:97261
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Alg12-Cdg	Thin upper lip vermilion, Wide nose, Sandal gap, Intestinal malrotation, Proximal placement of th...	ORPHA:79324
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Glucagonoma	Hypercalcemia	ORPHA:97280
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi...	OMIM:617088
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Crouzon Syndrome	Dental crowding, Sagittal craniosynostosis, High palate, Lambdoidal craniosynostosis, Coronal cra...	OMIM:123500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353277
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Charge Syndrome	Hypoplasia of the ulna, Anal stenosis, Down-sloping shoulders, Choanal atresia, Cleft upper lip, ...	OMIM:214800
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Sarcoidosis	Hypercalcemia	ORPHA:797
Craniopharyngioma	Abnormal nasal bone morphology, Increased susceptibility to fractures	ORPHA:54595
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Branchiooculofacial Syndrome	Broad nasal tip, Depressed nasal bridge, Proximal placement of thumb, Cleft upper lip, Malrotatio...	OMIM:113620
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Nasolacrimal Duct Cyst	Nasal congestion, Deviated nasal septum	ORPHA:141083
Sting-Associated Vasculopathy, Infantile-Onset	Nasal septum perforation, Joint stiffness	OMIM:615934
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Sotos Syndrome	Hypercalcemia	ORPHA:821
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800

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 Gpc6

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 Gpc6.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Glypican-6 and Glypican-4 stimulate embryonic stomach growth by regulating Hedgehog and noncanonical Wnt signaling.	Developmental dynamics : an official publication of the American Association of Anatomists (September 2022)	Gpc6^{tm2a(EUCOMM)Wtsi}	36057966
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Gpc6^{tm2a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Gpc6^{tm2a(EUCOMM)Wtsi}	PMC6459510
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.	The Journal of cell biology (July 2017)	Gpc6^{tm2c(EUCOMM)Wtsi} Gpc6^{tm2a(EUCOMM)Wtsi}	PMC5584141

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
Gpc6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gpc6^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gpc6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gpc6^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Gpc6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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