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Gene: Asap1 MGI:1342335

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ArfGAP with SH3 domain, ankyrin repeat and PH domain1

Synonyms:

Ddef1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Asap1^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

View all 25 images

Human diseases caused by Asap1 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 Asap1 (0 diseases)
Human diseases predicted to be associated with Asap1 (469 diseases)

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

The table below shows human diseases predicted to be associated to Asap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Sle...	ORPHA:50811
Multiple Epiphyseal Dysplasia With Robin Phenotype	Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses, Micrognathia...	OMIM:601560
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Cub...	OMIM:608154
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Acromesomelic Dysplasia 2A	Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of...	OMIM:200700
Spondyloepiphyseal Dysplasia Congenita	Abnormal foot morphology, Upper limb undergrowth, Increased head circumference, Abnormal respirat...	ORPHA:94068
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	Cutaneous finger syndactyly, Short stature, Swan neck-like deformities of the fingers, Abnormalit...	ORPHA:329252
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic...	OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Failure to thrive, Rhizomelia, Disproportionate short-limb short stature, S...	OMIM:600121
Marshall-Smith Syndrome	Omphalocele, Apnea, Malar flattening, Atlantoaxial dislocation, Decreased body weight, Umbilical ...	OMIM:602535
Rhizomelic Dysplasia, Ain-Naz Type	Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Severe...	OMIM:619598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Intrauterine growth retardation, Adducted thumb, Small for gestational age, Decreas...	OMIM:616897
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short 5th metacarpal, Short stature, Multiple small vertebral fractures, P...	OMIM:156510
Osteolysis Syndrome, Recessive	Distal radial epiphyseal osteolysis, Abnormal foot morphology, Short stature, Osteolytic defects ...	OMIM:259610
Pseudoachondroplasia	Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor...	ORPHA:750
Femoral-Facial Syndrome	Micrognathia, Talipes equinovarus, Short stature, Abnormal sacrum morphology, Coxa vara, Hip dysp...	ORPHA:1988
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Malar flattening, Congenital hip dislocation, Deviation of finger, Ingui...	ORPHA:2412
Odontochondrodysplasia 1	Genu varum, Death in infancy, Short stature, Delayed eruption of teeth, Genu recurvatum, Short ph...	OMIM:184260
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Hip contracture, Pes planus, Short long bone, Microretrognathia, Micrognathia, Sma...	OMIM:618363
Atelosteogenesis, Type I	Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Malar flattening, 1...	OMIM:108720
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Epiphyseal Dysplasia, Multiple, 1	Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Mild sho...	OMIM:132400
Atelosteogenesis Type Ii	Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short...	ORPHA:56304
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Short stature,...	OMIM:147891
Pelviscapular Dysplasia	Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb...	ORPHA:93333
Thanatophoric Dysplasia Type 1	Femoral bowing, Short greater sciatic notch, Respiratory insufficiency, Abnormal sacroiliac joint...	ORPHA:1860
Pde4D Haploinsufficiency Syndrome	Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor...	ORPHA:439822
Microphthalmia With Limb Anomalies	Death in infancy, Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Fing...	ORPHA:1106
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F...	ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Sh...	ORPHA:99642
Geroderma Osteodysplasticum	Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ...	OMIM:231070
Eiken Syndrome	Limited elbow flexion, Short stature, Metaphyseal irregularity, Epiphyseal dysplasia, Cubitus val...	ORPHA:79106
Greenberg Dysplasia	Omphalocele, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple prenatal fractures,...	OMIM:215140
Pycnodysostosis	Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Hypoplasia of the maxill...	ORPHA:763
Camptodactyly Syndrome, Guadalajara, Type Ii	Hallux valgus, Micrognathia, Short middle phalanx of finger, Intrauterine growth retardation, Sho...	OMIM:211920
Metaphyseal Chondrodysplasia, Schmid Type	Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe...	ORPHA:174
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ulnar deviation...	OMIM:166300
Premature Aging Syndrome, Penttinen Type	Micrognathia, Delayed eruption of teeth, Osteopenia, Lipoatrophy, Slender long bone, Hypoplasia o...	OMIM:601812
Brachyolmia Type 1, Hobaek Type	Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho...	OMIM:271530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe...	OMIM:210710
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Upper airway obstruction, F...	ORPHA:440354
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Talipes equinovarus, Tapered finger, Short stature, Macrocephaly, Short palm, Camptodactyly of fi...	ORPHA:85279
Atelosteogenesis, Type Iii	Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip...	OMIM:108721
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short stature, Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Moderately s...	OMIM:612350
Aarskog-Scott Syndrome	Short stature, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptod...	ORPHA:915
Desbuquois Dysplasia 1	Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Talipes equinovarus, Short...	OMIM:251450
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Small epiphyses, Discolored lateral incisors, Tapered finger, Irregular verte...	OMIM:601668
Atelosteogenesis Type I	Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ...	ORPHA:1190
Pseudoachondroplasia	Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula...	OMIM:177170
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr...	ORPHA:79345
Andersen Cardiodysrhythmic Periodic Paralysis	Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Hypoplasia of the maxilla, Short...	OMIM:170390
Carpenter Syndrome 1	Omphalocele, Genu varum, Short stature, Malar flattening, Joint contracture of the hand, Deviatio...	OMIM:201000
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Supernumerary tooth, Abnormal bone structure, Multiple impacted tee...	ORPHA:83451
Cardiocranial Syndrome, Pfeiffer Type	Micrognathia, Intrauterine growth retardation, Growth delay, Short stature, Deep palmar crease, T...	ORPHA:2872
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ...	ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda	Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ...	ORPHA:93284
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Failure to thrive in infancy, Intrauterine growth retardation, Flexion contracture ...	OMIM:610758
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu...	ORPHA:93314
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Osteolysis	ORPHA:2776
Multicentric Osteolysis, Nodulosis, And Arthropathy	C1-C2 subluxation, Hip contracture, Short stature, Pes planus, Delayed eruption of teeth, Protrus...	OMIM:259600
Ruvalcaba Syndrome	Short stature, Short metatarsal, Small hand, Delayed puberty, Kyphosis, Short metacarpal, Short f...	OMIM:180870
Heyn-Sproul-Jackson Syndrome	Intrauterine growth retardation, Broad phalanx, Severe short stature, 11 pairs of ribs, Short met...	OMIM:618724
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Micrognathia, Narrow palm, Tapered finger, Sh...	OMIM:216550
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Joint contracture of the hand, Radial devi...	OMIM:136760
Aicardi Syndrome	Butterfly vertebrae, Multiple lipomas, Small hand, Missing ribs, Hip dysplasia, Hiatus hernia, Bl...	ORPHA:50
Aicardi Syndrome	Butterfly vertebrae, Hemivertebrae, Missing ribs, Proximal placement of thumb, Postnatal growth r...	OMIM:304050
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli...	OMIM:607143
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Short stature, Cub...	OMIM:617396
Dysostosis, Stanescu Type	Carious teeth, Short stature, Abnormality of epiphysis morphology, Bowing of the long bones, Hypo...	ORPHA:1798
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Absent thumb, ...	OMIM:612447
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib...	ORPHA:397973
3Mc Syndrome 2	Abnormality of the vertebral column, Radioulnar synostosis, Abnormal vertebral morphology, Cranio...	OMIM:265050
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Shor...	OMIM:215150
Multiple Epiphyseal Dysplasia Type 4	Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi...	ORPHA:93307
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,...	ORPHA:157965
Atelosteogenesis, Type Ii	Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali...	OMIM:256050
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hip joint morphology, Short stature, Abnormal lumbar spine morphology, Thoracic scoliosi...	ORPHA:166011
Acrodysostosis	Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Short stature, Epiphyseal ...	ORPHA:950
Metaphyseal Acroscyphodysplasia	Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip...	OMIM:250215
Acrodysostosis 1 With Or Without Hormone Resistance	Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Na...	OMIM:101800
Temtamy Preaxial Brachydactyly Syndrome	Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Hypoplasia of the ma...	ORPHA:363417
Kyphomelic Dysplasia	Disproportionate short stature, Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, ...	OMIM:211350
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Omphalocele, Foot oligodactyly, Short femur, Scoliosis	OMIM:601357
Aarskog-Scott Syndrome	Short stature, Pes planus, Syndactyly, Hypoplasia of the maxilla, Broad palm, Broad foot, Cervica...	OMIM:305400
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Meier-Gorlin Syndrome 1	Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Birth length less than 3rd percenti...	OMIM:224690
Lujan-Fryns Syndrome	Micrognathia, Arachnodactyly, Brachydactyly, Macrocephaly, Camptodactyly of finger, Hypoplasia of...	ORPHA:776
Keipert Syndrome	Short hallux, Broad hallux phalanx, Short stature, Broad thumb, Broad distal phalanx of finger, M...	ORPHA:2662
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Intrauterine growth retardation, Short stature, Failure to thrive, Congenital diap...	OMIM:617602
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Cubitus valgus, Malar flattening, Postnatal growth retardation, Short toe, Anterior scalloping of...	OMIM:611717
Fibrous Dysplasia Of Bone	Abnormality of the ulna, Short stature, Fibrous dysplasia of the bones, Rickets, Abnormal bone st...	ORPHA:249
Spondyloepimetaphyseal Dysplasia, X-Linked	Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas...	OMIM:300106
Craniosynostosis And Dental Anomalies	Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Supernumerary tooth, Delayed eruption of tee...	OMIM:614188
Three M Syndrome 1	Neonatal respiratory distress, Short stature, Malar flattening, Short ribs, Pes planus, Postnatal...	OMIM:273750
Meier-Gorlin Syndrome 4	Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less...	OMIM:613804
Smith-Mccort Dysplasia 1	Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplasia of the odontoid process, Hy...	OMIM:607326
Meier-Gorlin Syndrome 5	Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less...	OMIM:613805
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla, Microcephaly	OMIM:618383
Ivic Syndrome	Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o...	OMIM:147750
Dyggve-Melchior-Clausen Disease	Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar...	OMIM:223800
Stuve-Wiedemann Syndrome 1	Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Apnea, Mala...	OMIM:601559
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Tapered finger, Long fingers, Flexion contracture, Restrictive ventilatory de...	OMIM:218000
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Epiphyseal dysplasia, Pes ...	OMIM:615777
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Abnormality of cartilage of external ear, Lipomas of eyelids...	ORPHA:2399
Maxillonasal Dysplasia	Mandibular prognathia, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx o...	ORPHA:1248
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu...	OMIM:608940
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Neonat...	OMIM:259420
Jackson-Weiss Syndrome	Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Toe syndactyly, Mandibular prognathia...	ORPHA:1540
Rhizomelic Chondrodysplasia Punctata, Type 5	Growth delay, Talipes equinovarus, Short stature, Swan neck-like deformities of the fingers, Meta...	OMIM:616716
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Talipes equinovarus, Short stature, Mandibular prognathia, Large hands, Talipes cal...	OMIM:300534
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly	OMIM:246560
Martsolf Syndrome 1	Metatarsus adductus, Micrognathia, Slender ulna, Talipes equinovarus, Short stature, Short phalan...	OMIM:212720
Shprintzen-Goldberg Syndrome	Abnormal form of the vertebral bodies, Apnea, Pes planus, Camptodactyly of finger, Hypoplasia of ...	ORPHA:2462
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of finger, Abnormality of the wrist, Camptodactyly of finger, Ulnar deviation of ...	ORPHA:1529
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Intrauterine growth retardation, Short femur, Short stature, Failure to thrive, Lon...	OMIM:264090
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,...	OMIM:183849
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala...	ORPHA:1427
Shprintzen-Goldberg Craniosynostosis Syndrome	Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvatum, Camptodactyly, H...	OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Hallux valgus, Talipes equinovarus, Dysplasia of the femoral head, Postnatal growt...	ORPHA:536467
Wt Limb-Blood Syndrome	Micrognathia, Ulnar deviation of thumb, Clinodactyly of the 5th finger, Short thumb, Absent thumb...	OMIM:194350
Osebold-Remondini Syndrome	Tarsal synostosis, Abnormality of the vertebral column, Short stature, Broad finger, Broad toe, F...	OMIM:112910
Chromosome 16P13.3 Duplication Syndrome	Tapered finger, Long fingers, Malar flattening, Proximal placement of thumb, Hip dislocation, Pes...	OMIM:613458
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Malar flattening, Macrocephaly, Broad thumb, Hypoplasia of t...	ORPHA:261295
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Short finger, Short met...	OMIM:190351
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Short stature, Cubitus valgus, Malar flattening, Prominent calcaneus, Pe...	ORPHA:457395
Meier-Gorlin Syndrome 3	Micrognathia, Genu varum, Intrauterine growth retardation, Aplasia/Hypoplasia of the patella, Tal...	OMIM:613803
Pyruvate Dehydrogenase Deficiency	Intrauterine growth retardation, Growth delay, Tachypnea, Dyspnea, Osteolytic defects of the midd...	ORPHA:765
Familial Median Cleft Of The Upper And Lower Lips	Abnormal mandible morphology, Abnormality of the maxilla	ORPHA:401942
Stickler Syndrome Type 1	Abnormality of epiphysis morphology, Platyspondyly, Joint hyperflexibility, Hypoplasia of the max...	ORPHA:90653
Acromesomelic Dysplasia 4	Genu varum, Short stature, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thor...	OMIM:619636
Van Den Ende-Gupta Syndrome	Hallux valgus, Talipes equinovarus, Malar flattening, Joint contracture of the hand, Long hallux,...	OMIM:600920
Arthrogryposis, Distal, Type 3	Distal arthrogryposis, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Ulnar devi...	OMIM:114300
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Severe short s...	OMIM:102370
Dental Anomalies And Short Stature	Herniation of intervertebral nuclei, Intervertebral space narrowing, Short stature, Mandibular pr...	OMIM:601216
Otopalatodigital Syndrome, Type Ii	Nonossified fifth metatarsal, Omphalocele, Short stature, Short metatarsal, Malar flattening, Sho...	OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow...	OMIM:210720
Metaphyseal Chondrodysplasia, Schmid Type	Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu...	OMIM:156500
Coffin-Lowry Syndrome	Short stature, Abnormal form of the vertebral bodies, Pes planus, Delayed eruption of teeth, Slee...	ORPHA:192
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the ulna, Short stature, Oligodactyly, Aplasia/Hypoplasia of th...	ORPHA:1307
Campomelic Dysplasia	Shortening of all phalanges of the toes, Talipes equinovarus, Apnea, 11 pairs of ribs, Femoral bo...	OMIM:114290
Cutis Laxa, Autosomal Recessive, Type Ib	Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Joint hypermobility, Emphysema, In...	OMIM:614437
X-Linked Intellectual Disability, Sutherland-Haan Type	Small for gestational age, Short stature, Mandibular prognathia, Hypoplasia of the maxilla, Decre...	ORPHA:93950
Acrodysostosis 2 With Or Without Hormone Resistance	Spinal canal stenosis, Intrauterine growth retardation, Cone-shaped epiphysis, Mandibular prognat...	OMIM:614613
Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Short stature, Dysplasia of the femora...	ORPHA:536471
Acrocephalopolysyndactyly Type Iii	Mandibular prognathia, Lower limb undergrowth, Broad thumb, Craniosynostosis, Malar flattening, P...	OMIM:101120
Osteoglophonic Dysplasia	Pseudoarthrosis, Short metatarsal, Malar flattening, Short phalanx of finger, Broad palm, Hypopla...	OMIM:166250
Cohen Syndrome	Short stature, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, Micrognathia, Intrau...	ORPHA:193
Myhre Syndrome	2-3 toe syndactyly, Short stature, Birth length less than 3rd percentile, Malar flattening, Enlar...	OMIM:139210
Smith-Mccort Dysplasia 2	Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Short stature, Shor...	OMIM:615222
Microcephaly-Capillary Malformation Syndrome	Short stature, Small for gestational age, Failure to thrive, Progressive microcephaly, Short dist...	OMIM:614261
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Camptodactyly of finger, Respiratory failure, Hypoplasia of the maxilla, Micro...	ORPHA:2554
Weismann-Netter Syndrome	Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal...	ORPHA:3344
Skraban-Deardorff Syndrome	Micrognathia, Hyperplasia of the maxilla	OMIM:617616
Lowry-Maclean Syndrome	Micrognathia, Intrauterine growth retardation, Growth delay, Talon cusp, Congenital diaphragmatic...	ORPHA:2409
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Short stature...	OMIM:257850
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Micrognathia, Abnormality of primary molar morphology, Short stature, Limb undergrowth, Spontaneo...	OMIM:225410
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Respiratory insufficiency, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Mal...	ORPHA:93262
Moebius Syndrome	Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Arthrogryposis multipl...	OMIM:157900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Metaphyseal cupping, Short stature, Small for gestational age, Dysplastic sacrum, Tachypnea, Pulm...	OMIM:613320
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, S...	OMIM:112350
Pseudoleprechaunism Syndrome, Patterson Type	Abnormality of ethmoid bone, Abnormality of the odontoid process, Palmoplantar cutis laxa, Delaye...	ORPHA:2976
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal g...	OMIM:617102
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Hypoplasia of the maxilla, Craniosynostosis, Microcephaly	OMIM:608432
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Intrauterine growth retardation, Talipes equinovarus, Small for gestational age, Tachypnea, Failu...	OMIM:604320
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Finger syndactyly, Sandal gap, Limitation of joint mobility, Camptodactyly of f...	ORPHA:178303
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long palm, Mandibular prognathia, Long foot, Slender build, Kyphosis, Macrocephaly, Hypoplasia of...	OMIM:300676
Van Maldergem Syndrome 2	Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ...	OMIM:615546
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Hyperplasia o...	ORPHA:313892
Otopalatodigital Syndrome, Type I	Omphalocele, Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing,...	OMIM:311300
Kagami-Ogata Syndrome	Omphalocele, Micrognathia, Long fingers, Limb undergrowth, Kyphoscoliosis, Pulmonary arterial hyp...	OMIM:608149
Primary Pulmonary Hypoplasia	Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Intrauterine growt...	ORPHA:2257
Van Maldergem Syndrome 1	Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ...	OMIM:601390
Ehlers-Danlos Syndrome, Classic Type, 1	Umbilical hernia, Short stature, Cigarette-paper scars, Hyperextensibility of the knee, Inguinal ...	OMIM:130000
Hypophosphatemic Rickets, X-Linked Dominant	Spinal canal stenosis, Tibial bowing, Fibular bowing, Short stature, Bowing of the legs, Enamel h...	OMIM:307800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormality of the vertebral column, Short stature, Malar flattening, Hip dislocation, Macrocepha...	OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Failure to thrive, Arachnodacty...	ORPHA:481152
3M Syndrome	Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Increased vertebral ...	ORPHA:2616
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Talipes equinovarus, Short stature, Hypoplasia of the radius, Fing...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo...	OMIM:602557
Spondyloepimetaphyseal Dysplasia, Missouri Type	Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa...	ORPHA:93356
Dwarfism With Stiff Joints And Ocular Abnormalities	Short lower limbs, Lower limb undergrowth, Disproportionate short-limb short stature, Severe shor...	OMIM:127200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Growth delay, Proportionate short stature, Platyspondyly, Os...	OMIM:619269
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proximal humeral metaphyseal irregularity, Micrognathia, Death in infancy, Ulnar deviation of the...	OMIM:602613
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ri...	OMIM:277440
Chromosome 8Q22.1 Duplication Syndrome	Abnormality of the vertebral column, Hallux valgus, Short stature, Short metatarsal, Cubitus valg...	OMIM:151200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Short stature, Epiphyseal stip...	ORPHA:96334
Saethre-Chotzen Syndrome	Hallux valgus, Triphalangeal thumb, Short stature, Broad thumb, Craniosynostosis, Abnormal form o...	ORPHA:794
Mohr Syndrome	Agenesis of central incisor, Micrognathia, Short stature, Bilateral postaxial polydactyly, Metaph...	OMIM:252100
Anauxetic Dysplasia 3	Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Joint hy...	OMIM:618853
Nicolaides-Baraitser Syndrome	Prominent interphalangeal joints, Intrauterine growth retardation, Growth delay, Short stature, F...	OMIM:601358
Acromesomelic Dysplasia 1	Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux...	OMIM:602875
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short stature, Short metacarpal, Short phalanx of finger, Brachydactyly	OMIM:112410
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Micrognathia, Wrist swelling, Cachexia, Abnormality of epiphysis morphology, Metacarpal osteolysi...	ORPHA:2774
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,...	OMIM:271665
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o...	OMIM:264700
Wiedemann-Rautenstrauch Syndrome	2-3 toe syndactyly, Short stature, Slender build, Malar flattening, Cervical vertebral dysplasia,...	ORPHA:3455
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,...	OMIM:610713
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Small epiphyses, Proximal femoral epiphysiolysis, Short stature, Narrow pelvis bone, Craniosynost...	OMIM:616723
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Multiple lipomas, Lipomas of eyelids	OMIM:167730
Three M Syndrome 2	Intrauterine growth retardation, Short stature, Small for gestational age, Malar flattening, Prom...	OMIM:612921
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Dens in dente, Short middle phalanx of fin...	OMIM:263540
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Short stature, Short distal phalanx of finger, Coronal craniosynostosis...	ORPHA:2095
Wrinkly Skin Syndrome	Carious teeth, Short stature, Pes planus, Delayed eruption of teeth, Postnatal growth retardation...	ORPHA:2834
Myhre Syndrome	Intrauterine growth retardation, Large iliac wing, Mandibular prognathia, Abnormality of epiphysi...	ORPHA:2588
Neurofaciodigitorenal Syndrome	Intrauterine growth retardation, Triphalangeal thumb, Abnormality of the elbow, Short stature, Ma...	ORPHA:2673
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Talipes equinovarus, Short stature, Cubitus valgus, Pes planus, Delayed eruption of teeth, Campto...	OMIM:143095
Pelvis-Shoulder Dysplasia	Talipes equinovarus, Short stature, Prominent protruding coccyx, Abnormal form of the vertebral b...	ORPHA:2839
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Intrauterine growth retardation, Hip contracture, Talipes, Ulnar deviation of finge...	OMIM:210730
Nager Syndrome	Micrognathia, Triphalangeal thumb, Respiratory insufficiency, Phocomelia, Aplasia/Hypoplasia of t...	ORPHA:245
Faciocardiomelic Syndrome	Micrognathia, Thin bony cortex, Polydactyly, Cuboid-shaped vertebral bodies, Osteopenia, Microcep...	OMIM:612731
Metaphyseal Chondrodysplasia, Kaitila Type	Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy...	OMIM:250230
Frontometaphyseal Dysplasia	Keloids, Short metatarsal, Pes valgus, Joint contracture of the hand, Progressive bowing of long ...	ORPHA:1826
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R...	OMIM:602111
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome	Micrognathia, Talipes equinovarus, Short stature, Hemivertebrae, Beaking of vertebral bodies, Cra...	OMIM:213980
Three M Syndrome 3	Growth delay, Short stature, Small for gestational age, Prominent calcaneus, Joint hypermobility,...	OMIM:614205
Weill-Marchesani Syndrome 2	Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Flexion contracture of toe...	OMIM:608328
Nablus Mask-Like Facial Syndrome	Tapered finger, Craniosynostosis, Joint contracture of the hand, Secondary microcephaly, Retrogna...	OMIM:608156
Pfeiffer Syndrome	Elbow ankylosis, Mandibular prognathia, Broad thumb, Finger syndactyly, Syndactyly, Broad hallux,...	OMIM:101600
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Micrognathia, Short clavicles, Loss of subcutaneous adipose...	OMIM:608612
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum	ORPHA:2972
Trichorhinophalangeal Syndrome Type 1 And 3	Micrognathia, Shortening of all phalanges of fingers, Cone-shaped epiphysis, Short stature, Short...	ORPHA:77258
Osteogenesis Imperfecta, Type Viii	Tibial bowing, Radial bowing, Disproportionate short-limb short stature, Multiple prenatal fractu...	OMIM:610915
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Growth delay, Polydactyly, Failure to thrive, Apnea, Respiratory distress, Flexion contracture, S...	ORPHA:17
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Micrognathia, Talipes equinovarus, Short stature, Talipes, Broad distal phalanx of finger, Pes pl...	OMIM:300990
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormality of the elbow, Short stature, Abnormal form of the vertebral bodies, Abn...	ORPHA:1486
Sponastrime Dysplasia	Abnormality of the vertebral column, Metaphyseal irregularity, Obtuse angle of mandible, Pes plan...	ORPHA:93357
Nasodigitoacoustic syndrome	Enlarged epiphyses, Short 3rd metacarpal, Short stature, Rounded epiphyses, Broad distal phalanx ...	OMIM:255980
Weill-Marchesani Syndrome 1	Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Short stature, Proportiona...	OMIM:277600
Cerebrofacioarticular Syndrome	Micrognathia, Talipes equinovarus, Short stature, Osteopenia, Syndactyly, Caudal appendage, Campt...	ORPHA:314679
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Short stature, Acetabular dysplasia, Retrognathia, Femoral bowing, Hypoplasia of th...	OMIM:616462
Meier-Gorlin Syndrome 2	Micrognathia, Aplasia/Hypoplasia of the patella, Intrauterine growth retardation, Short stature, ...	OMIM:613800
Osteogenesis Imperfecta, Type Xviii	Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Bowing of the long bones, Generalized...	OMIM:617952
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hallux valgus, Talipes equinovarus, Malar flattening, Epiphyseal dysplasia, Pes planus, Pathologi...	OMIM:271640
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Micrognathia, Arachnodactyly, Macrocephaly, Flexion contracture, Broad thumb, Hypoplasia of the m...	OMIM:309520
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly	ORPHA:1276
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Micrognathia, Short stature, Failure to thrive, Kyphoscoliosis, Supernumerary tooth, Delayed erup...	OMIM:264475
8Q24.3 Microdeletion Syndrome	Short stature, Pes valgus, Pes planus, Finger clinodactyly, Short femur, Microretrognathia, Thora...	ORPHA:508488
Bruck Syndrome 2	Talipes equinovarus, Short stature, Increased susceptibility to fractures, Platyspondyly, Knee fl...	OMIM:609220
Codas Syndrome	Omphalocele, Metaphyseal dysplasia, Short stature, Pes valgus, Proximal placement of thumb, Delay...	OMIM:600373
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ...	OMIM:600785
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Deformed humerus, Micrognathia, Dislocated radial head, Hypoplasia of the premaxilla, Mandibular ...	ORPHA:2975
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st...	ORPHA:508533
Squalene Synthase Deficiency	Micrognathia, 2-3 toe syndactyly, Intrauterine growth retardation, Failure to thrive in infancy, ...	OMIM:618156
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t...	OMIM:609945
Campomelic Dysplasia	Talipes equinovarus, Short stature, 11 pairs of ribs, Femoral bowing, Short long bone, Poorly oss...	ORPHA:140
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Osteoporosis, Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Rec...	OMIM:126550
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis	Femoral bowing, Tibial bowing, Short stature, Platyspondyly, Flexion contracture, Cervical kyphos...	OMIM:245160
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Long foot, Malar flattening, Arachnodactyly, Eunuchoid habitus, Osteopenia, Joint hypermobility, ...	ORPHA:2463
Subaortic Stenosis--Short Stature Syndrome	Growth delay, Broad finger, Broad toe, Malar flattening, Small hand, Short foot, Short palm, Shor...	OMIM:271960
Frontorhiny	Hypoplastic frontal sinuses, Pericallosal lipoma, Brachydactyly, Camptodactyly of finger, Hypopla...	ORPHA:391474
Atypical Rett Syndrome	Growth delay, Abnormal pattern of respiration, Sudden episodic apnea, Small hand, Kyphosis, Episo...	ORPHA:3095
Wiedemann-Steiner Syndrome	Short middle phalanx of finger, Growth delay, Short stature, Tapered finger, Failure to thrive, S...	OMIM:605130
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Rickets, Abnormal form of the vertebral bodies, Malar fl...	ORPHA:2636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Short stature, Apnea, Short ribs, Rhizomelic arm shortening, Small cervical vertebral bodies, Cer...	ORPHA:397715
Dyggve-Melchior-Clausen Syndrome, X-Linked	Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu...	OMIM:304950
Hypocalcemic Vitamin D-Dependent Rickets	Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Enlargement ...	ORPHA:289157
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Ulnar deviation of the ...	OMIM:122880
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Micrognathia, Gene...	ORPHA:73230
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Short stature, Tapered finger, Taurodontia, S...	OMIM:616202
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Short stature, Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly	OMIM:132450
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Genu varum, Metaphyseal dysplasia, Short stature, Metaphyseal chondromatosis of ulna, Metaphyseal...	ORPHA:99646
Cleidocranial Dysplasia	Neonatal respiratory distress, Malar flattening, Aplastic clavicle, Absent frontal sinuses, Short...	OMIM:119600
Autosomal Recessive Hypophosphatemic Rickets	Genu varum, Short stature, Enlargement of the wrists, Delayed eruption of teeth, Increased bone m...	ORPHA:289176
Acromesomelic Dysplasia 3	Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, D...	OMIM:609441
Kenny-Caffey Syndrome, Type 1	Carious teeth, Intrauterine growth retardation, Birth length less than 3rd percentile, Small hand...	OMIM:244460
Chondrodysplasia-Disorder Of Sex Development Syndrome	Broad long bones, Intrauterine growth retardation, Micromelia, Severe short stature, Short metaca...	ORPHA:1422
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Short stature, Short metatarsal, Short metacarpal, Short toe, Hypoplasia of the maxilla, Short ph...	OMIM:211370
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Short stature, Epistaxis, Asthma, Hypoplasia of the maxilla, Clinodactyly, M...	ORPHA:293939
Joubert Syndrome 7	Central apnea, Postaxial polydactyly, Tachypnea, Episodic tachypnea, Neonatal breathing dysregula...	OMIM:611560
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Short stature, Malar flattening, Secondary microcephaly, Preaxial hand polydactyly,...	ORPHA:79113
Langer Mesomelic Dysplasia	Mesomelic short stature, Micrognathia, Radial bowing, Madelung deformity, Broad ulna, Hypoplasia ...	OMIM:249700
Dominant Beta-Thalassemia	Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ...	ORPHA:231226
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight, Short stature	ORPHA:93945
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures...	OMIM:166220
Peters-Plus Syndrome	Birth length less than 3rd percentile, Short metatarsal, Proximal placement of thumb, Syndactyly,...	OMIM:261540
Recurrent Respiratory Papillomatosis	Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct...	ORPHA:60032
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial ap...	OMIM:274000
Otodental Syndrome	Carious teeth, Pulp calcification, Abnormal dental enamel morphology, Delayed eruption of teeth, ...	ORPHA:2791
Stickler Syndrome	Short stature, Slender build, Abnormal form of the vertebral bodies, Malar flattening, Abnormal d...	ORPHA:828
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Crouzon Disease	Hypoplasia of the maxilla, Respiratory insufficiency, Multiple suture craniosynostosis, Abnormal ...	ORPHA:207
Craniolenticulosutural Dysplasia	Carious teeth, Posterior wedging of vertebral bodies, Short stature, Pes planus, Delayed eruption...	ORPHA:50814
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cone-shaped epiphysis, Short stature, Craniosynostosis, Short phalanx of finger, Short ribs, Hypo...	OMIM:266920
Osteogenesis Imperfecta	Carious teeth, Neonatal respiratory distress, Short stature, Abnormal form of the vertebral bodie...	ORPHA:666
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Micrognathia, Talipes, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Umb...	ORPHA:2166
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo...	OMIM:601356
Familial Osteodysplasia, Anderson Type	Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Increa...	ORPHA:2769
Split-Hand/Foot Malformation 2	Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot	OMIM:313350
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Bartsocas-Papas Syndrome 1	Omphalocele, Talipes equinovarus, Syndactyly, Hypoplasia of the maxilla, Short phalanx of finger,...	OMIM:263650
Apert Syndrome	Toe syndactyly, Cervical C5/C6 vertebrae fusion, Respiratory insufficiency, Mandibular prognathia...	ORPHA:87
Rubinstein-Taybi Syndrome 1	Keloids, Radial deviation of thumb terminal phalanx, Short stature, Pes planus, Syndactyly, Postn...	OMIM:180849
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, 2-3 toe syndactyly, Growth delay, Short stature, Small...	ORPHA:37553
Beta-Thalassemia Major	Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ...	ORPHA:231214
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Growth delay, Tachypnea, Pulmonary arterial hypertension, Inguinal hernia	OMIM:614857
Cleft Velum	Hypoplasia of the maxilla, Aspiration pneumonia	ORPHA:99772
Marshall-Smith Syndrome	Failure to thrive, Increased susceptibility to fractures, Craniosynostosis, Bowing of the long bo...	ORPHA:561
Primrose Syndrome	Hip contracture, Increased size of the mandible, Short stature, Calcification of the auricular ca...	OMIM:259050
Holoprosencephaly 7	Hypoplasia of the premaxilla, Macrocephaly, Omphalocele, Absent nasal septal cartilage	OMIM:610828
Cowden Syndrome 5	Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t...	OMIM:615108
Distal Monosomy 19P13.3	Keloids, Arachnodactyly, Long toe, Hypoplasia of the maxilla, Vaginal hernia, Umbilical hernia, J...	ORPHA:96129
Acromesomelic Dysplasia 2B	Fibular aplasia, Deformed tarsal bones, Short metatarsal, Malaligned carpal bone, Fibular hypopla...	OMIM:228900
Zttk Syndrome	Relative macrocephaly, Intrauterine growth retardation, Growth delay, Short stature, Hemivertebra...	OMIM:617140
Czech Dysplasia	Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh...	OMIM:609162
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Postaxial polydactyly	OMIM:619142
Frank-Ter Haar Syndrome	Talipes equinovarus, Camptodactyly, Short phalanx of finger, Short long bone, Anterior concavity ...	OMIM:249420
Yunis-Varon Syndrome	Short middle phalanx of finger, Short stature, Short ribs, Syndactyly, Postnatal growth retardati...	ORPHA:3472
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin...	ORPHA:85167
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Pu...	OMIM:265120
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Hypoplasia of the maxilla, Progressive microcephaly	OMIM:618737
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Pulp calcification, Short middle phala...	OMIM:606895
Joubert Syndrome 23	Tachypnea, Apnea, Polydactyly	OMIM:616490
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia, Biparietal narrowing	ORPHA:228396
Cowden Syndrome 6	Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t...	OMIM:615109
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T...	OMIM:610921
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Femoral bowing, Rocker bottom foot, Narrow pelvis bone, Malar flattening, Arachnodactyly, Ulnar b...	OMIM:207410
Thalidomide Embryopathy	Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Short stature, Aplasia/...	ORPHA:3312
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Cough, Arthritis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea	OMIM:616414
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ...	ORPHA:2502
Chromosome 2Q37 Deletion Syndrome	Short stature, Short metatarsal, Malar flattening, Short metacarpal, Short toe, Obesity, Short ph...	OMIM:600430
Spondylometaphyseal Dysplasia, Sedaghatian Type	Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, 11 pairs of ribs, Iliac c...	OMIM:250220
Multiple Osteochondromas	Short lower limbs, Abnormal lower limb bone morphology, Short stature, Femoroacetabular impingeme...	ORPHA:321
Treacher-Collins Syndrome	Abnormality of the vertebral column, Micrognathia, Respiratory insufficiency, Abnormality of bone...	ORPHA:861
Pyknoachondrogenesis	Poorly ossified vertebrae, Increased head circumference, Short iliac bones, Aplastic pubic bones,...	ORPHA:3003
Orofaciodigital Syndrome Type 2	Short stature, Apnea, Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Sho...	ORPHA:2751
Marshall Syndrome	Micrognathia, Short stature, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic bone, Malar...	ORPHA:560
Wrinkly Skin Syndrome	Carious teeth, Talipes equinovarus, Short stature, Pes planus, Delayed eruption of teeth, Umbilic...	OMIM:278250
Rothmund-Thomson Syndrome Type 2	Carious teeth, Genu varum, Short stature, Abnormal dental enamel morphology, Delayed eruption of ...	ORPHA:221016
Crouzon Syndrome	Mandibular prognathia, Abnormality of the cervical spine, Sleep apnea, Coronal craniosynostosis, ...	OMIM:123500
Holoprosencephaly 9	Short stature, Malar flattening, Agenesis of incisor, Hypoplasia of the premaxilla, Postaxial han...	OMIM:610829
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni...	OMIM:610913
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Broad finger, Small hand, Abnormal hand morphology, Retrognathia, Short phalanx of...	OMIM:300845
Saethre-Chotzen Syndrome	Absent first metatarsal, Hallux valgus, Toe syndactyly, Radioulnar synostosis, Short stature, Abn...	OMIM:101400
Rothmund-Thomson Syndrome Type 1	Carious teeth, Genu varum, Patellar aplasia, Abnormality of the radial head, Short stature, Growt...	ORPHA:221008
Orofaciodigital Syndrome Type 6	Micrognathia, Growth delay, Short stature, Failure to thrive, Apnea, Mesoaxial polydactyly, Foot ...	ORPHA:2754
Femoral-Facial Syndrome	Talipes equinovarus, Short stature, Hypoplastic acetabulae, Short humerus, Short fourth metatarsa...	OMIM:134780
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Talipes equinovarus, Mandibular prognathia, Ulnar deviation of finger, Inguinal hernia, Camptodac...	ORPHA:1101
Singleton-Merten Syndrome 1	Carious teeth, Expanded metacarpals with widened medullary cavities, Eruption failure, Hypoplasti...	OMIM:182250
Branchioskeletogenital Syndrome	Carious teeth, Mandibular prognathia, Craniosynostosis, Abnormality of the cervical spine, Abnorm...	ORPHA:1299
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Micrognathia, Short stature, Clinodactyly, Kyphosis, Sacral dimple, Syndactyly, Macr...	OMIM:616894
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypopl...	OMIM:276820
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respiratory distress, Acute ...	ORPHA:264675
Cowden Syndrome 1	Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t...	OMIM:158350
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple non-erupting secondary teeth...	OMIM:273050
Acitretin/Etretinate Embryopathy	Micrognathia, Abnormality of the calcaneus, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia...	ORPHA:40366
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Metatarsus adductus, Micrognathia, Failure to thrive, Contractures of the joints of the lower lim...	ORPHA:513456
Joubert Syndrome 30	Tachypnea, Apnea, Postaxial hand polydactyly	OMIM:617622
Robin Sequence With Cleft Mandible And Limb Anomalies	Tibial deviation of toes, Talipes equinovarus, Short stature, Short phalanx of finger, Proximal p...	OMIM:268305
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, Intrauterine growth retardation, Short stature, Rickets, Growth delay, Respirat...	OMIM:613658
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening	OMIM:241310
Cerebellar-Facial-Dental Syndrome	Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor...	ORPHA:444072
Acrodysostosis With Multiple Hormone Resistance	Spinal canal stenosis, Intrauterine growth retardation, Hypoplasia of the nasal bone, Cone-shaped...	ORPHA:280651
Cholesterol Pneumonia	Tachypnea, Death in infancy, Cough, Pneumonia	OMIM:215030
Interstitial Pneumonitis, Desquamative, Familial	Tachypnea, Failure to thrive, Cough, Respiratory distress, Respiratory failure	OMIM:263000
Aarskog Syndrome, Autosomal Dominant	Single transverse palmar crease, Mild short stature, Pes planus, Genu recurvatum, Radial deviatio...	OMIM:100050
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly	OMIM:614684
Goldberg-Shprintzen Syndrome	Tapered finger, Small hand, Hypoplasia of the maxilla, Short neck, Clinodactyly, Microcephaly	OMIM:609460
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Micrognathia, Retrognathia, Episodic tachypnea	ORPHA:163961
Osteogenesis Imperfecta, Type I	Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures, Osteopenia, J...	OMIM:166200
Fetal Akinesia Deformation Sequence 1	Micrognathia, Intrauterine growth retardation, Elbow ankylosis, Rocker bottom foot, Talipes equin...	OMIM:208150
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Brachydactyly, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal...	ORPHA:306542
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Death in infancy, Early ossification of capital femoral epiphyses, Short sta...	OMIM:208500
Angelman Syndrome	Mandibular prognathia, Obesity, Hypoplasia of the maxilla, Secondary microcephaly, Scoliosis	OMIM:105830
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Foot polydactyly, Hand polydactyly, Biparietal narrowing, Scoliosis	ORPHA:2318
Joubert Syndrome	Abnormal pattern of respiration, Abnormal form of the vertebral bodies, Apnea, Episodic tachypnea...	ORPHA:475
Propionic Acidemia	Short stature, Tachypnea, Failure to thrive, Osteoporosis, Apnea	OMIM:606054
Dyskeratosis Congenita	Carious teeth, Intrauterine growth retardation, Short stature, Osteoporosis, Palmoplantar keratod...	ORPHA:1775
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus	OMIM:616367
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Tachypnea, Malar flattening, Failure to thrive	OMIM:220111
Hyperparathyroidism, Neonatal Severe	Tachypnea, Failure to thrive, Metaphyseal irregularity, Recurrent fractures, Dyspnea	OMIM:239200
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress, Large for gestational age	ORPHA:45452
Chronic Pneumonitis Of Infancy	Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Intercostal retractions, Re...	ORPHA:91359
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Syndactyly, Short stature	OMIM:129400
Pulmonary Alveolar Microlithiasis	Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ...	ORPHA:60025
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Umbilical hernia, Inguinal hernia	OMIM:601499
Tetanus	Tachypnea, Stiff neck, Trismus, Respiratory distress	ORPHA:3299
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Relative macrocephaly, Intrauterine growth retardation, Hemivertebr...	ORPHA:500150
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Microcephaly, Episodic tachypnea	OMIM:615160
Bacterial Toxic-Shock Syndrome	Sinusitis, Pneumonia, Abnormality of the upper limb, Abnormality of the lower limb, Fasciitis, Ta...	ORPHA:36234
Floating-Harbor Syndrome	Carious teeth, Short clavicles, Growth delay, Humeral pseudarthrosis, Short stature, Small for ge...	ORPHA:2044
Staphylococcal Necrotizing Pneumonia	Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut...	ORPHA:36238
Citrullinemia Type I	Tachypnea, Ankle clonus, Failure to thrive	ORPHA:247525
Split Lower Lip	Narrow maxilla	OMIM:183400
Focal Dermal Hypoplasia	Omphalocele, Short stature, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delayed erupt...	OMIM:305600
Branchiooculofacial Syndrome	Micrognathia, Intrauterine growth retardation, Malar flattening, Proximal placement of thumb, Kyp...	OMIM:113620
Ablepharon Macrostomia Syndrome	Toe syndactyly, Omphalocele, Growth delay, Hypoplasia of the zygomatic bone, Camptodactyly of fin...	ORPHA:920
Holocarboxylase Synthetase Deficiency	Tachypnea, Respiratory distress, Weight loss, Growth delay	ORPHA:79242
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr...	OMIM:610978
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis	OMIM:267450
Cleft Lip/Palate	Peg-shaped maxillary lateral incisors, Agenesis of lateral incisor, Abnormality of dental eruptio...	ORPHA:199306
Rhombencephalosynapsis	Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finger syndactyly, M...	ORPHA:59315
Double Outlet Right Ventricle	Tachypnea, Abnormality of cartilage of external ear, Short stature, Failure to thrive	ORPHA:3426
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Tachypnea, Failure to thrive, Decreased DLCO, Res...	OMIM:300770
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ...	OMIM:113310
Dihydropyrimidinase Deficiency	Short phalanx of finger, Growth delay, Talipes equinovarus	OMIM:222748
Acute Interstitial Pneumonia	Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ...	ORPHA:79126
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma	OMIM:106260
Nivelon-Nivelon-Mabille Syndrome	Severe short stature, Microcephaly, Short metacarpal, Short phalanx of finger, Micromelia, Brachy...	OMIM:600092
Avian Influenza	Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non...	ORPHA:454836
Joubert Syndrome 9	Apnea, Scoliosis, Episodic tachypnea	OMIM:612285
Joubert Syndrome 2	Abnormal foot morphology, Central apnea, Failure to thrive, Episodic tachypnea, Macrocephaly, Neo...	OMIM:608091
Elsahy-Waters Syndrome	Abnormality of the vertebral column, Mandibular prognathia, Malar flattening, Delayed eruption of...	OMIM:211380
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Small for gestational age, Tachypnea, Episodic tachypnea, Respiratory distress, Macroc...	ORPHA:26793
Acute Lung Injury	Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea	ORPHA:178320
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Hypoplasia of the maxilla, Cough, Failure to thrive	ORPHA:238468
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus	ORPHA:3044
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Growth delay	ORPHA:782
Multiple Carboxylase Deficiency	Tachypnea, Respiratory distress	ORPHA:148
Atrial Septal Defect, Ostium Primum Type	Abnormal respiratory system physiology, Tachypnea, Failure to thrive, Pulmonary arterial hyperten...	ORPHA:99106
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis	ORPHA:70587
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Tachypnea, Death in infancy, Microcephaly	OMIM:201475
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Sting-Associated Vasculopathy, Infantile-Onset	Joint stiffness, Tachypnea, Failure to thrive	OMIM:615934
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Aspiration pneumonia, Episodic tachypnea	ORPHA:79264
Genitopatellar Syndrome	Micrognathia, Patellar aplasia, Hip contracture, Talipes equinovarus, Congenital hip dislocation,...	OMIM:606170
Nance-Horan Syndrome	Supernumerary maxillary incisor, Broad finger, Screwdriver-shaped incisors, Mulberry molar, Short...	OMIM:302350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hand polydactyly, Hypoplasia of the ...	OMIM:129900
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Macrocephaly, Neonatal breathing dysregulation, Postaxial foot...	OMIM:213300
Craniofacial Microsomia	Micrognathia, Hemivertebrae, Malar flattening, Vertebral hypoplasia, Block vertebrae, Hypoplasia ...	OMIM:164210
Joubert Syndrome 3	Central apnea, Neonatal breathing dysregulation, Episodic tachypnea	OMIM:608629
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Intrauterine growth retardation, Small for gestational age, Tachypnea, Respiratory fai...	ORPHA:555874
Congenitally Uncorrected Transposition Of The Great Arteries	Tachypnea, Hypoxemia, Small for gestational age, Failure to thrive	ORPHA:860
Arteriosclerosis, Severe Juvenile	Short stature, Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger, Delay...	OMIM:208060
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Pallister-Killian Syndrome	Omphalocele, Delayed eruption of teeth, 11 pairs of ribs, Short toe, Short phalanx of finger, Umb...	OMIM:601803
Complete Atrioventricular Septal Defect	Wheezing, Crackles, Tachypnea, Failure to thrive, Elevated pulmonary artery pressure, Pulmonary v...	ORPHA:1329
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hypoplasia of the maxilla, Ectrodact...	OMIM:604292
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion	ORPHA:542323
Hartsfield Syndrome	Craniosynostosis, Syndactyly, Hypoplasia of the frontal bone, Ectrodactyly, Microcephaly	OMIM:615465
Hypomandibular Faciocranial Dysostosis	Death in infancy, Craniosynostosis, Maxillozygomatic hypoplasia	ORPHA:1790
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Weight loss, Apnea, Microcephaly	ORPHA:20
Beta-Ketothiolase Deficiency	Tachypnea, Weight loss, Cough	ORPHA:134
Coronary Arterial Fistula	Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Pedal edema	ORPHA:2041
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Rhinitis, Hypoplasia of the maxilla, Taurodontia, Respiratory distress	OMIM:305100
Fructose-1,6-Bisphosphatase Deficiency	Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper...	ORPHA:348
Rh Deficiency Syndrome	Tachypnea, Hypoxemia, Intrauterine growth retardation	ORPHA:71275
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth...	ORPHA:217563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Atelectasis, Failure to thrive	OMIM:618278
Arima Syndrome	Tachypnea, Dyspnea, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:243910
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of lateral incisor, Agenesis of molar	OMIM:313500
Pyruvate Carboxylase Deficiency	Tachypnea, Growth delay, Abnormal pattern of respiration, Failure to thrive	ORPHA:3008
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Cholera	Tachypnea, Hyperventilation, Palmoplantar cutis laxa, Aspiration pneumonia	ORPHA:173
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperventilation	OMIM:253270
Cocaine Intoxication	Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation	ORPHA:90068
Serotonin Syndrome	Tachypnea	ORPHA:43116
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Biotinidase Deficiency	Tachypnea, Apnea	OMIM:253260
Histiocytoid Cardiomyopathy	Tachypnea, Cough, Failure to thrive	ORPHA:137675
Truncus Arteriosus	Tachypnea, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth retardation	ORPHA:3384
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Malar flattening, Hypoplasia of the frontal bone	OMIM:229400
Proboscis Lateralis	Abnormality of ethmoid bone, Aplasia/Hypoplasia of the maxilla, Abnormality of the maxillary sinu...	ORPHA:141099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea, Failure to thrive	ORPHA:415
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Goodpasture Syndrome	Crackles, Tachypnea, Weight loss, Cough, Exertional dyspnea, Increased DLCO, Restrictive ventilat...	OMIM:233450
Scorpion Envenomation	Tachypnea, Abnormal nasal mucus secretion	ORPHA:466677
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500
Exercise-Induced Malignant Hyperthermia	Tachypnea, Hypocapnia, Crackles	ORPHA:466650
Aortic Arch Interruption	Tachypnea, Exertional dyspnea, Pedal edema, Respiratory distress	ORPHA:2299
Isolated Exencephaly	Abnormality of facial skeleton, Hypoplasia of the frontal bone	ORPHA:563612
Joubert Syndrome 5	Central apnea, Neonatal breathing dysregulation, Episodic tachypnea	OMIM:610188
Multisystemic Smooth Muscle Dysfunction Syndrome	Tachypnea, Pulmonary arterial hypertension	OMIM:613834

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 Asap1

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 Asap1.

No publications found that use IMPC mice or data for Asap1.

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MGI Allele	Allele Type	Produced
Asap1^{em1(IMPC)Wtsi}	Exon Deletion	Mice
Asap1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Asap1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Asap1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Asap1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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