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Gene: Amer1 MGI:1919595

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

APC membrane recruitment 1

Synonyms:

Amer1, Fam123b, Wtx, 2810002O09Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Amer1 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 Amer1 (2 diseases)
Human diseases predicted to be associated with Amer1 (1042 diseases)

The table below shows human diseases associated to Amer1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopathia Striata-Cranial Sclerosis Syndrome		Frontal bossing, Increased bone mineral density, Flat occiput, Facial hyperostosis, Large fontane...	ORPHA:2780
Osteopathia Striata With Cranial Sclerosis		Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Clinodactyly of the 5th f...	OMIM:300373

The table below shows human diseases predicted to be associated to Amer1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Bent Bone Dysplasia Syndrome 2	Osteopenia, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis...	OMIM:620076
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,...	ORPHA:93307
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Wide anterior fontanel, Ulnar bo...	OMIM:619135
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ...	OMIM:617866
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero...	OMIM:207410
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Chronic kidney disease, Osteoporosis, Short long ...	OMIM:602152
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent duct...	OMIM:618845
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Splenomegaly...	ORPHA:3035
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Midface retrusion, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ...	OMIM:151210
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Microcephaly, Splenomegaly, Abnormal limb bone morp...	ORPHA:2204
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Achondroplasia	Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bo...	OMIM:100800
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spur...	OMIM:618188
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Unilateral renal agenesis, Microcephaly, Hip dislocation, Talipes equin...	OMIM:616603
Melnick-Needles Syndrome	Omphalocele, Frontal bossing, Bowing of the long bones, Craniofacial hyperostosis, Coxa valga, Hi...	ORPHA:2484
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero...	ORPHA:2790
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Abnormal rib morphology, Brachyceph...	ORPHA:2097
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Amegakaryocytic thrombocytop...	OMIM:605432
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, A...	OMIM:304120
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, 2-3 toe synd...	ORPHA:3306
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Nephropathy, Madelung deformity, Hematuria,...	ORPHA:1765
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ...	OMIM:600373
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,...	OMIM:600920
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Weill-Marchesani Syndrome 1	Thin bony cortex, Ventricular septal defect, Joint stiffness, Broad skull, Patent ductus arterios...	OMIM:277600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r...	OMIM:268310
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Ventricular septal defect, Joint stiffness, Broad skull, Pate...	OMIM:608328
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping fingers, Overlapping toe, Hypoplastic right heart, Posta...	OMIM:618142
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femor...	OMIM:241530
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl...	OMIM:271640
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis, Microcephaly	ORPHA:2512
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Coccidioidomycosis	Broad skull, Abnormality of the spleen, Abnormal long bone morphology, Abnormality of the liver, ...	ORPHA:228123
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, Hypospadi...	OMIM:175700
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o...	OMIM:608022
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Subcutaneous calcification, Radial bowing, Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Microcep...	OMIM:616362
Atelosteogenesis, Type Iii	Frontal bossing, Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proxi...	OMIM:108721
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of t...	OMIM:218600
Pyle Disease	Thickened calvaria, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone minera...	OMIM:265900
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, Short metacarpa...	OMIM:108720
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Short foot, Dolichocephal...	ORPHA:166277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Frontal bossing, Rhizomelia, Unilateral renal agenesis, Microcephaly, Patent du...	OMIM:617661
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ...	OMIM:211350
Shashi-Pena Syndrome	Short metacarpal, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Patent ductus arter...	OMIM:617190
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Macrocephaly, Multiple lipomas, Calvarial hyperostosis, Dolich...	OMIM:176920
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Aplasia/Hypoplasia of t...	ORPHA:1837
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bicuspid aortic valve, Unilateral renal agenesis, Absent thumb, Unilatera...	OMIM:614900
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
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Death in infancy, Pancytopenia, Ventricular septal defect, Unilateral renal agenesi...	OMIM:614576
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal ...	ORPHA:2787
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ...	OMIM:619951
Hao-Fountain Syndrome	Hallux valgus, Trigonocephaly, Large fontanelles, Clinodactyly of the 5th finger, Micropenis, Del...	OMIM:616863
Bartsocas-Papas Syndrome 1	Ectopic kidney, Flexion contracture, Hypoplastic iliac wing, Micropenis, Pterygium, Patent forame...	OMIM:263650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle...	OMIM:308050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Flat occiput, Thin bony cortex, Recurrent fractures, Enlargem...	OMIM:600081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom...	ORPHA:163979
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope...	OMIM:617303
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Perica...	ORPHA:464329
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:264700
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal heart morphology, Upper limb phocomelia, Atypical scarring o...	ORPHA:294975
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microcephaly, Pericardial effusion, Polydactyly, Talipes ...	OMIM:613885
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Fla...	OMIM:252500
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ...	OMIM:249710
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Hydranencephaly, Truncus arte...	OMIM:601355
Acromesomelic Dysplasia 1	Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo...	OMIM:602875
Gracile Bone Dysplasia	Death in infancy, Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, ...	OMIM:602361
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Inguinal hernia, Wide anterior fontanel, Macrocephaly, Umbilical hernia, Nephrob...	OMIM:618272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Overlapping toe, Ventricular septal defect, Unilateral renal agenesis, Rena...	OMIM:618494
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex	OMIM:174810
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Frontal bossing, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Nep...	ORPHA:93160
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Cardiomegaly, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Brachyce...	OMIM:616897
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Dolichocephaly, Prominent occiput, Abnormal calvaria morphology, Primary micr...	ORPHA:89844
Achard Syndrome	Joint laxity, Broad skull, Arachnodactyly, Brachycephaly	OMIM:100700
Bullous Dystrophy, Hereditary Macular Type	Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis	OMIM:302000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Brachycephaly, Femoral bowing, Vesicoureteral reflux, Abnormality of the wri...	ORPHA:95699
Alg9-Cdg	Brachycephaly, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left ventricu...	ORPHA:79328
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Emanuel Syndrome	Recurrent urinary tract infections, Congenital hip dislocation, Truncus arteriosus, Ventricular s...	OMIM:609029
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Microcephaly	OMIM:300831
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Ab...	ORPHA:2879
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Prominent superficial...	ORPHA:75508
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ...	ORPHA:1471
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub...	ORPHA:2804
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Hypospadias, Unilateral renal agenesis, Abno...	ORPHA:363444
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Midface retrusion, Unilateral renal agenesis, Neonatal epiphysea...	OMIM:101800
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Microcephaly, Brachycephaly, Macrocephaly, Midface retrusion, Joint hy...	OMIM:619504
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome,...	OMIM:269920
Osteogenesis Imperfecta, Type X	Osteopenia, Micromelia, Generalized joint laxity, Tibial bowing, Death in childhood, Broad ribs, ...	OMIM:613848
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Emanuel Syndrome	Inguinal hernia, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Unila...	ORPHA:96170
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Hypocalcemic Vitamin D-Dependent Rickets	Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial sutures, Osteomalacia, Irr...	ORPHA:289157
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Knee flexion contracture, Macrovesicular hepatic steatosis, L...	OMIM:608836
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Vitamin D-Dependent Rickets, Type 2A	Frontal bossing, Bulging epiphyses, Flat occiput, Thin bony cortex, Recurrent fractures, Enlargem...	OMIM:277440
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Coxa valga, Wide anterior fontanel, Abnormality ...	ORPHA:163649
Burn-Mckeown Syndrome	Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Renal ...	OMIM:608572
Holzgreve Syndrome	Turricephaly, Abnormally ossified vertebrae, Abnormal morphology of ulna, Renal hypoplasia/aplasi...	ORPHA:2167
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral atresia, Hand p...	OMIM:314390
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, M...	OMIM:613849
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Abnormal occipital bone morphology, L...	ORPHA:73
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, Wri...	OMIM:259600
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Large fontan...	ORPHA:1525
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ...	OMIM:307800
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Joint stiffness, Hypoplasia of the ra...	ORPHA:245
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As...	OMIM:615415
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Horizontal rib...	OMIM:613091
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ...	OMIM:154400
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Increased connective tissue,...	OMIM:606408
Dent Disease	Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa...	ORPHA:1652
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia...	OMIM:113000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Broad ribs...	OMIM:276820
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Frontal bossing, Recurrent urinary tract infections, Unilateral renal agenesis, Decre...	ORPHA:221139
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short ...	ORPHA:2658
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
H Syndrome	Hallux valgus, Lipodystrophy, Abnormality of the kidney, Recurrent fractures, Microcytic anemia, ...	ORPHA:168569
Takenouchi-Kosaki Syndrome	Inguinal hernia, Midface retrusion, Overlapping toe, Hypospadias, Proximal placement of thumb, Ta...	OMIM:616737
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Microcephaly, Wide anterior fontanel, Patent ductus a...	OMIM:614886
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Micromelia, Craniosynostosis, Postaxial hand poly...	OMIM:200995
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k...	OMIM:602200
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal f...	OMIM:613320
Mirage Syndrome	Recurrent urinary tract infections, Overlapping fingers, Hypospadias, Rocker bottom foot, Radial ...	OMIM:617053
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Turricephaly, Craniosynost...	ORPHA:171839
Coach Syndrome 1	Encephalocele, Hepatomegaly, Occipital encephalocele, Unilateral renal agenesis, Portal hypertens...	OMIM:216360
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Abnormality of the elbow, Abnormal rib morphol...	ORPHA:1486
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614870
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Radial-Renal Syndrome	Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb	OMIM:179280
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Braddock Syndrome	Preaxial hand polydactyly, Intrauterine growth retardation, Unilateral renal agenesis, Missing ribs	ORPHA:52047
Pallister-Hall Syndrome	Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular canal defect, Mesoaxial polyda...	ORPHA:672
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Micropenis, Finger joint hypermobility	OMIM:244200
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Micropenis, Cloverleaf skull, Arachnodactyly, Hypospadias, Ulnar b...	OMIM:201750
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Microcephaly, Dilated cardiomyopathy,...	OMIM:616541
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion...	OMIM:239850
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Osteogenesis Imperfecta	Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ...	ORPHA:666
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger s...	ORPHA:3320
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia, Dolichocephaly, Macrocephaly	ORPHA:3270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Inguinal hernia, Vertebral fusion, Overlapping toe, Unil...	OMIM:213980
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Mulibrey Nanism	Hepatomegaly, Frontal bossing, Single transverse palmar crease, Cardiomegaly, Enamel hypoplasia, ...	OMIM:253250
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Prematurely aged appearance, Genu recurvatum, Unilater...	ORPHA:90348
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dyspl...	ORPHA:500095
Fibrous Dysplasia Of Bone	Abnormal occipital bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa va...	ORPHA:249
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven...	ORPHA:99646
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor...	ORPHA:85198
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
7Q11.23 Microduplication Syndrome	Inguinal hernia, Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Ventric...	ORPHA:96121
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Hypoxemia, Abnormality of connective tissue,...	ORPHA:79128
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Williams-Beuren Region Duplication Syndrome	Cutis marmorata, Unilateral renal agenesis, Patent ductus arteriosus, Brachycephaly, Macrocephaly...	OMIM:609757
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Abnormal...	OMIM:610967
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Small hand, Thin ribs, Short fo...	ORPHA:93324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptod...	ORPHA:468631
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Hypercalciuria, Nephrolithiasis, Reduced bon...	ORPHA:157215
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Flat occiput, Microcephaly, Abnormal thumb morphology, Abnormal metacarpal morphol...	ORPHA:2511
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Craniosynostosis, Knee flexion contracture, Bi...	ORPHA:284417
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Asplenia, Finger clinodactyly, Biparietal narrowing, Endocardial...	ORPHA:99776
Zttk Syndrome	Relative macrocephaly, Frontal bossing, Absent gallbladder, Ventricular septal defect, Polyuria, ...	OMIM:617140
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B...	OMIM:611555
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Prominent superficial vei...	OMIM:608612
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon...	OMIM:256550
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Wormian bones, Flexion contracture, Elbow flexion contracture, Femor...	OMIM:609220
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Cranios...	ORPHA:251004
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Wormian bones, Protrusio acetabuli, Recurrent fractures, Severe generalized oste...	OMIM:259420
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe...	OMIM:609465
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Hepatomegaly, Short toe, Pa...	OMIM:269860
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Tr...	ORPHA:84
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Atrial septal ...	OMIM:270400
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Ventricula...	ORPHA:464306
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Frontal bossing, Crumpled long bones, Joint laxity, Metaphyseal widening, Osteoporosi...	ORPHA:2788
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, P...	OMIM:601186
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal finger...	ORPHA:2319
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic sut...	ORPHA:3369
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Secundum atrial septal defect, Brachycephaly, Short palm, Atrial septal...	OMIM:249420
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Parietal foramina...	OMIM:601224
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Midface retrusion, Overlapping toe, Hypospadias, Proximal placement of thumb, Ta...	ORPHA:487796
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis,...	OMIM:241500
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Camptodactyly of finger, Renal hypoplasia/aplasia, Patent ductus arteriosus, Midsha...	ORPHA:2863
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, W...	OMIM:228520
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Tapered finger, Microcephaly, ...	ORPHA:464311
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral h...	ORPHA:1901
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Increased...	ORPHA:289176
Martsolf Syndrome 1	Joint laxity, Short metacarpal, Inguinal hernia, Microcephaly, Metatarsus adductus, Slender ulna,...	OMIM:212720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Multiple joint ...	OMIM:245600
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Inguinal herni...	OMIM:612940
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera...	ORPHA:508488
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Small hand, Osteoporosis...	ORPHA:2796
Pentasomy X	Camptodactyly of finger, Microcephaly, Patent ductus arteriosus, Small hand, Short foot, Plagioce...	ORPHA:11
Menkes Disease	Joint laxity, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Osteoporosis, Brachycephaly,...	OMIM:309400
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi...	OMIM:619131
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Ventricular septal defect, Unilateral renal agenesis, Macrocephaly	OMIM:618504
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,...	OMIM:269300
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch, Short palm, Atrial sep...	OMIM:312870
Cleidocranial Dysplasia	Brachycephaly, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sk...	ORPHA:1452
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Turricephaly, Hypoplastic scapulae, Micromelia, Bowing of...	OMIM:200600
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Abnormal rib morphology, Cervical C2/C3 ver...	OMIM:118100
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Frontal bossing, Craniosynostosis, Unilateral renal agenesis	ORPHA:1064
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Cofs Syndrome	Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Joint stiffness, Microcephaly...	ORPHA:1466
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Fem...	ORPHA:198
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Microcephaly, Postaxial hand polydactyly, Split h...	ORPHA:2491
Osteogenesis Imperfecta, Type Vii	Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ...	OMIM:610682
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial poly...	ORPHA:457284
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Microcephaly, Muscular ventricular septal defect, Plag...	OMIM:619227
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormal rib morphology, Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Cyanosis, Postaxial polydactyly, P...	OMIM:619879
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg...	ORPHA:1517
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Accessory spleen, Single transverse palmar crease, Unilateral renal agenesis, Bifid ...	OMIM:618419
2Q31.1 Microdeletion Syndrome	Abnormal tibia morphology, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Fing...	ORPHA:251014
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secu...	OMIM:300855
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Unilateral rena...	OMIM:113650
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Abnormality of the elbow...	ORPHA:2673
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Hyperphosphaturia, Hepatocellular carcinoma, ...	ORPHA:2088
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95717
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi...	OMIM:208540
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Decreased calva...	OMIM:259440
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microce...	OMIM:613680
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Dislocation of the femoral head, Severe generalized osteoporosis, M...	OMIM:210730
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Multiple rib fractures, Rhizomelia, Recu...	OMIM:616229
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporo...	OMIM:232220
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left ventricular hypertrophy,...	OMIM:300280
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre...	ORPHA:83
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Increased bone mineral density, Flat occiput, Facial hyperostosis, Large fontane...	ORPHA:2780
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo...	ORPHA:371428
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Ab...	ORPHA:1798
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Microcephaly, V...	OMIM:619322
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Absent os...	OMIM:166210
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Patchy reduction of bone miner...	ORPHA:221120
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Macrodactyly, Telangiectasia of the skin, 2-4 toe syndactyly, Abnormality of the lym...	ORPHA:276280
Cole-Carpenter Syndrome 2	Osteopenia, Frontal bossing, Turricephaly, Wide cranial sutures, Recurrent fractures, Dentinogene...	OMIM:616294
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Distal 22Q11.2 Microduplication Syndrome	Frontal bossing, Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of f...	ORPHA:261337
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Osteoporosis, Nephrolithiasis, Gout, Focal s...	OMIM:232200
Waardenburg Syndrome Type 3	Camptodactyly of finger, Tracheomalacia, Microcephaly, Joint stiffness, Abnormal finger morpholog...	ORPHA:896
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragm...	ORPHA:2260
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Atrial septal defect, Midface retrusion, Frontal bossing, Arachnodactyly, Bicuspid ...	OMIM:619721
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Wide anteri...	OMIM:601390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Ost...	OMIM:615398
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Bowing of the legs, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight p...	OMIM:615605
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, Joint con...	OMIM:601812
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal rib morphology, Rib ...	ORPHA:1988
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Elbow flexion contracture, Genu valgum, ...	OMIM:619194
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Hypospad...	OMIM:614541
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus...	ORPHA:505248
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal...	OMIM:180860
Tarp Syndrome	Finger syndactyly, Cyanosis, Extramedullary hematopoiesis, Single transverse palmar crease, Rocke...	ORPHA:2886
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Frontal bossing, Unilateral renal agenesis, Cardiac myxom...	OMIM:181270
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture...	OMIM:210710
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, Macrovesicular hepat...	OMIM:619127
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Microcephaly, Flexion contracture, Large ...	OMIM:222765
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Ingu...	OMIM:615546
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal p...	OMIM:600057
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Leopard Syndrome 1	Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal agenesis, Missing ribs, C...	OMIM:151100
Congenital Fibrinogen Deficiency	Cyanosis, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Micropenis, Bruisin...	ORPHA:335
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Postaxial foot polydact...	OMIM:301056
Primary Pulmonary Hypoplasia	Ureteral stenosis, Cyanosis, Dextrocardia, Microcephaly, Secundum atrial septal defect, Patellar ...	ORPHA:2257
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Infantile Systemic Hyalinosis	Short palm, Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomal...	ORPHA:2176
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia	ORPHA:89937
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death...	OMIM:608978
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Relative macroc...	OMIM:239000
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Re...	OMIM:615583
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Knee flexion contracture, Cutaneous finger syndactyly, P...	OMIM:151050
Cinca Syndrome	Joint dislocation, Hepatomegaly, Frontal bossing, Purpura, Abnormality of neutrophils, Delayed cl...	ORPHA:1451
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Microcephaly, Coxa vara, Contractures o...	OMIM:616716
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bilateral talipes equin...	OMIM:614083
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M...	ORPHA:3206
Pycnodysostosis	Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la...	ORPHA:763
Holzgreve Syndrome	Renal agenesis, Hand polydactyly, Hypoplastic left heart, Renal hypoplasia	OMIM:236110
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Cole-Carpenter Syndrome	Frontal bossing, Crumpled long bones, Bowing of the long bones, Turricephaly, Abnormal dental ena...	ORPHA:2050
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Still...	OMIM:259410
Autosomal Recessive Cutis Laxa Type 2A	Frontal bossing, Inguinal hernia, Congenital hip dislocation, Persistent open anterior fontanelle...	ORPHA:357058
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Patent ductus arteriosus, Cor...	OMIM:620024
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Prote...	ORPHA:191
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contracture, Broad palm, Coxa ...	OMIM:300232
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Microcephaly, Flared met...	OMIM:602471
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Single transverse palmar crease, Congenital diaphragmat...	ORPHA:2409
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Microcephaly, Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of ...	OMIM:614407
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metopic ridge, Micromelia, Microcephaly,...	ORPHA:1597
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Accessory...	OMIM:620005
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Atrial septal defect, Recurrent urinary tract infections, Broad hallux, Sandal gap,...	OMIM:615873
Hajdu-Cheney Syndrome	Osteopenia, Hernia, Decreased skull ossification, Partial absence of toe, Hepatomegaly, Hypospadi...	ORPHA:955
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Inguinal hernia, Congenital hip dislocation, Prominent superficial blood vessels...	OMIM:219150
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Frontal bossing, Abnormal dental ename...	ORPHA:3258
Melnick-Needles Syndrome	Omphalocele, Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysi...	OMIM:309350
Cardiofaciocutaneous Syndrome	Frontal bossing, Abnormal heart valve morphology, Abnormal morphology of ulna, Genu valgum, Exces...	ORPHA:1340
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Patent ductus arteriosus, Limitation of joint mobility, Clubbing, Osteop...	OMIM:259100
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Proteinuria, Chronic neutropenia, Osteoporosis, Nephrolithiasis, Stage ...	ORPHA:79259
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffne...	ORPHA:93
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Renal insufficiency, Wormian bones, Ventricular septal defect, Trigonocepha...	OMIM:617159
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous synda...	OMIM:236500
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha...	OMIM:617926
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of...	ORPHA:2636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Frontal bossing, Hyperextensibility at elbow, Absent gallbladder, Arachnod...	ORPHA:500150
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Mitral valve prolapse, Femoral bowing, Increased s...	OMIM:166200
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Joi...	OMIM:252920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Marden-Walker Syndrome	Inguinal hernia, Arachnodactyly, Hypospadias, Dextrocardia, Microcephaly, Wide anterior fontanel,...	OMIM:248700
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Single transverse palmar crease, Delayed closure of the anterior font...	ORPHA:251009
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Ne...	OMIM:266920
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Ventricular sept...	ORPHA:268261
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Bladder diverticulum, At...	OMIM:617821
Cdags Syndrome	Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina...	OMIM:603116
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Cardiomegaly, Ectodermal dysplasia, Palmoplantar keratoderma, Enamel hypoplasia	OMIM:613576
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial...	ORPHA:2905
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Rickets of the l...	ORPHA:882
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia of the radius, Shor...	ORPHA:1972
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Sea-blue histi...	OMIM:230600
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Vesicoureteral reflux, Nephr...	ORPHA:116
Menkes Disease	Bowing of the long bones, Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
3Mc Syndrome 1	Omphalocele, Atrial septal defect, Conjunctival telangiectasia, Ventricular septal defect, Single...	OMIM:257920
Cockayne Syndrome Type 3	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp...	ORPHA:90324
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Single transverse palmar crease, Microcephaly, Patent ductus arterios...	ORPHA:3304
Tetrasomy 5P	Pericallosal lipoma, Cyanosis, Overlapping toe, Short hallux, Long fingers, Wide anterior fontane...	ORPHA:3309
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand	ORPHA:177910
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrot...	ORPHA:488627
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Pterygium, Micromelia, Craniosyno...	ORPHA:93329
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Frontal bossing, Dolichocephaly, Splenomegaly, Split hand, Scaphocephal...	OMIM:261515
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Progeroid facial appear...	OMIM:231070
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Wormian bones, Craniosynostosis, Brachycepha...	OMIM:604757
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility,...	ORPHA:628
3M Syndrome	Congenital hip dislocation, Micromelia, Clinodactyly of the 5th finger, Hypoplasia of the ulna, S...	ORPHA:2616
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Prominent metopic ridge, Hepatoblastoma, Cardiomegaly, Pancreatic hype...	OMIM:130650
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
De Barsy Syndrome	Osteopenia, Inguinal hernia, Congenital hip dislocation, Ventricular septal defect, Lipodystrophy...	ORPHA:2962
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Wide cranial sutures, Lipoatrophy, Left atrial enlargement, Limited ...	OMIM:614008
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Anem...	OMIM:276700
Mycetoma	Abnormality of the knee, Prominent superficial veins, Osteomyelitis, Abnormality of the hand, Bon...	ORPHA:2583
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen...	ORPHA:392
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ...	ORPHA:3138
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis, Progressive microcephaly	ORPHA:71277
Trigonocephaly 1	Omphalocele, Craniosynostosis, Microcephaly, Long penis, Metopic synostosis, Trigonocephaly	OMIM:190440
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Osteoporosis, Rickets, Death in adolescence, Proximal tubulopathy, Death ...	OMIM:560000
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ...	OMIM:272460
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Metopic depress...	ORPHA:313855
Dysosteosclerosis	Osteopenia, Frontal bossing, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, De...	OMIM:224300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Renal agenesis, Microcepha...	ORPHA:2516
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se...	OMIM:607323
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly	ORPHA:88643
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ...	OMIM:616602
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overlapping fingers, Overriding aorta, Ventricular septal defect, Stiff neck, Cardio...	OMIM:617022
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95716
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Abnormal heart morpholog...	ORPHA:79284
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, Tubulointerstitial nephritis, Ectodermal ...	OMIM:218330
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Overlapping toe, Ventricular septal defect, Micr...	OMIM:617478
Trisomy 17P	Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Tapered finger, Microcephaly, Paten...	ORPHA:261290
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,...	ORPHA:2769
Renal Agenesis	Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Renal age...	ORPHA:411709
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Por...	ORPHA:465508
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Clinod...	ORPHA:235
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia...	ORPHA:221016
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Holt-Oram Syndrome	Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology...	OMIM:142900
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Abnormal pelv...	ORPHA:1788
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Large posterior fontanelle, Hypospadias, Abnormal dental enamel morphology, Tars...	ORPHA:85199
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Frontal bossing, Flat occiput, Renal agenesis, Ectopic k...	OMIM:181510
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Short hallux, Patent foramen ...	OMIM:620305
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Aminoaciduria, Death in childhood, Ulnar deviation...	OMIM:214100
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Omphalocele, Congenital hip dislocation, Wormian bones, Anemia	OMIM:614450
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Secondary microcephaly	OMIM:610992
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Dolichoce...	OMIM:619727
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria	OMIM:602722
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion con...	OMIM:601559
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Dextrocardia, Absent thumb, Micro...	ORPHA:96097
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Hypospadias, Ventricular septal defect, Patent ductus ...	OMIM:102500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Spinal dysraphism...	OMIM:612918
Hsd10 Disease, Infantile Type	Cyanosis, Microcephaly, Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acyl...	ORPHA:391428
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Atri...	ORPHA:96334
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal ...	OMIM:308205
Congenital Toxoplasmosis	Hepatomegaly, Microcephaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Intrauteri...	ORPHA:858
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ...	OMIM:208500
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Wrist flexion contracture, Death in infancy, Increased bone mineral densit...	ORPHA:800
Distal Deletion 10Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad...	ORPHA:96148
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Knee flexion contrac...	ORPHA:3103
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast...	OMIM:119600
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Proteinuria, Rocker bottom foot, Congenital diaphragmatic hernia, ...	ORPHA:1272
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Brachycephaly, Coxa vara, Inc...	OMIM:610968
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Br...	ORPHA:199
Craniofaciofrontodigital Syndrome	Osteopenia, Atrial septal defect, Joint laxity, Prominent superficial veins, Bicuspid aortic valv...	ORPHA:363705
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Jaundice, Rickets, ...	ORPHA:79303
Choanal Atresia	Tracheomalacia, Cyanosis, Polydactyly, Craniosynostosis	ORPHA:137914
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Frontal bossing, Unilateral renal agenesis	OMIM:206750
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Absent thu...	OMIM:227645
Joubert Syndrome 37	Hepatomegaly, Frontal bossing, Prominent metopic ridge, Postaxial polydactyly, Micropenis, Hydron...	OMIM:619185
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Prominent metopic ridge, As...	OMIM:617746
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Renal agenesis, Dilated cardiomyopathy, Osteoporosis, Double outlet right v...	ORPHA:2326
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Abnormal dent...	ORPHA:221008
Restrictive Dermopathy 2	Intrauterine growth retardation, Overtubulated long bones, Short clavicles, Cyanosis	OMIM:619793
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
Beck-Fahrner Syndrome	Ventricular septal defect, Microcephaly, Cardiomegaly, Brachycephaly, Hip dysplasia, Macrocephaly...	OMIM:618798
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu...	OMIM:259700
Lessel-Kreienkamp Syndrome	Atrial septal defect, Frontal bossing, Wide cranial sutures, Bicuspid aortic valve, Patent ductus...	OMIM:619149
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Bruising suscepti...	OMIM:185070
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Flexion contracture, Reduced bone mineral density, Hepatomegaly, Abnor...	ORPHA:581
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Large fontanelles, Death in childhood, Neonatal death, Arthrogrypo...	OMIM:619334
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, R...	ORPHA:887
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de...	OMIM:166220
Omodysplasia 2	Short humerus, Frontal bossing, Hypospadias, Fibular hypoplasia, Limited elbow flexion/extension,...	OMIM:164745
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Hip dislocation, Oste...	OMIM:616507
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation...	OMIM:618395
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Aplastic cl...	OMIM:265800
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Telangiectasia of the sk...	ORPHA:2909
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Short tibia, Unicoronal synostosi...	OMIM:616300
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Ectodermal dysplasia, Atrial septal defect, Patent foramen ovale, Joint ...	OMIM:613610
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Hypospadias, Bicuspid aortic valve, Metatarsus adductus, P...	OMIM:611962
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Accessory spleen, Syndactyly, Malformation of the hepatic duct...	OMIM:249000
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General...	OMIM:613388
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ...	ORPHA:2876
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Large fontanelles, Delayed cranial suture closure, Microcephaly	ORPHA:1832
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Flat occiput, Overlapping toe, Flexion contracture, Plagiocephaly, Atrial septal de...	OMIM:619383
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Small hand, Thin ribs, Short foot, Slender long bone,...	OMIM:244460
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Congeni...	OMIM:122470
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Recurrent fr...	OMIM:309583
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor...	ORPHA:3472
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ...	OMIM:618143
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, Scap...	OMIM:278250
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Microcephaly, Long penis, Hy...	ORPHA:508
Raine Syndrome	Death in infancy, Bowing of the long bones, Hydroureter, Increased bone mineral density, Micromel...	OMIM:259775
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P...	OMIM:146300
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Distal...	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Frontal bossing, Death in infancy, Cardiomegaly, Wide anterior fontanel, Death in c...	OMIM:619064
Autosomal Dominant Omodysplasia	Short humerus, Hypoplasia of penis, Frontal bossing, Rhizomelia, Elbow dislocation, Patellar disl...	ORPHA:93328
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Telangiectasia, Cardiomyopat...	OMIM:235200
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Schinzel-Giedion Syndrome	Renal cyst, Tibial bowing, Hepatoblastoma, Broad ribs, Micropenis, Myeloid leukemia, Hypospadias,...	ORPHA:798
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Primary microcephaly, Muscular ventricular septal de...	OMIM:618804
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Spli...	OMIM:200980
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Delayed closure of the anterior fontanelle, Wide anter...	OMIM:225410
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Stillbirth	OMIM:276950
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Renal Tubular Acidosis Iii	Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis	OMIM:267200
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale, Tubulointerstitial fibrosis	OMIM:263000
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bone...	ORPHA:562
Coffin-Siris Syndrome 6	Frontal bossing, Wormian bones, Plagiocephaly, Atrial septal defect, Clinodactyly, Brachydactyly	OMIM:617808
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Atrial septal defect, Prominent metopic ridge, Overlapping toe, Ul...	OMIM:605039
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Asbestos Intoxication	Cyanosis, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Clubbing of...	ORPHA:2302
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Microcephaly, Short tibia, Humeroradial synostosis, Cran...	OMIM:251230
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Microcephaly, Hypoplastic ilia, Patellar aplasia, ...	ORPHA:85201
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Atrial septal defect, Phocomelia, Hepatome...	ORPHA:2538
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Prominent fingertip pads, Syndactyl...	OMIM:305450
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Trigonocephaly, Cardiom...	ORPHA:97297
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor...	ORPHA:860
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val...	OMIM:304150
Fucosidosis	Hepatomegaly, Frontal bossing, Angiokeratoma, Cardiomegaly, Coxa valga, Splenomegaly, Flexion con...	OMIM:230000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Hereditary Bullous Dystrophy, Macular Type	Turricephaly, Microcephaly, Tapered finger, Abnormal heart morphology, Short finger, Acrocyanosis	ORPHA:1867
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Bile Acid Conjugation Defect 1	Hepatomegaly, Jaundice, Rickets	OMIM:619232
Osteopathia Striata With Cranial Sclerosis	Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Clinodactyly of the 5th f...	OMIM:300373
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal de...	ORPHA:439
Marden-Walker Syndrome	Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly, Hypospadias,...	ORPHA:2461
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b...	OMIM:601853
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Horseshoe...	ORPHA:3109
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Hypertrophic cardiomyopathy	OMIM:614096
Trisomy 10P	Thumb contracture, Frontal bossing, Absent gallbladder, Wide cranial sutures, Abnormality of the ...	ORPHA:171929
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Flexion contract...	OMIM:130070
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Hypospadias, Flexion contracture, ...	OMIM:619479
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Microcephaly, Wide anterior fo...	ORPHA:90349
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Cerebrocostomandibular Syndrome	Rib gap, Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal st...	OMIM:117650
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Frontal bossing, Patent ductus arteriosus after premature birth, Postaxial ...	OMIM:618460
Oculocerebrorenal Syndrome Of Lowe	Flat occiput, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Death in infan...	ORPHA:534
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Absent gallbladder, Large posterior fontanelle, Postaxial polydactyly, Complete ...	OMIM:617925
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Renal cyst, Atrial septal d...	OMIM:614866
Hallermann-Streiff Syndrome	Frontal bossing, Wormian bones, Abnormality of the hand, Microcephaly, Tracheomalacia, Spina bifi...	OMIM:234100
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Microcephaly, Spina bifida, Flexion contracture, Osteoporos...	ORPHA:2671
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance, Flexion contracture, Limitation of join...	ORPHA:90153
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Inguinal hernia, Ventricular septal defect, Bicuspid aortic...	OMIM:130720
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrau...	OMIM:620135
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Rickets, Renal tubular dysfunction, Aminoa...	ORPHA:213
Classical Ehlers-Danlos Syndrome	Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec...	ORPHA:287
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Microcephaly, Asplenia, Abdominal situs inversus, Pulmonic stenosis, C...	OMIM:619123
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Ost...	OMIM:227810
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Diamond-Blackfan Anemia 1	Reticulocytopenia, Triphalangeal thumb, Neutropenia, Atrial septal defect, Spina bifida occulta, ...	OMIM:105650
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Patellar apla...	ORPHA:2842
White-Sutton Syndrome	Duplicated collecting system, Joint laxity, Wormian bones, Congenital diaphragmatic hernia, Micro...	OMIM:616364
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Desmosterolosis	Frontal bossing, Increased bone mineral density, Renal agenesis, Micromelia, Microcephaly, Metata...	ORPHA:35107
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Hypospa...	OMIM:619148
Congenital Heart Block	Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterin...	ORPHA:60041
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Ebstein anomaly of the tricuspid valve, Brachycephaly, Unilateral renal agenesis	OMIM:608980
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent radius, Short ...	OMIM:227650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Atrial septal defect, Prominent metopic ridge, Bicuspid aortic valve, Ventricular sep...	ORPHA:453499
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Brachycephaly, Mucopolys...	ORPHA:349
Faciocardiomelic Syndrome	Osteopenia, Microcephaly, Slender long bone, Polydactyly, Hypoplastic pelvis, Common atrium, Thin...	OMIM:612731
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Hepatocellular adenoma, Perineal hypospadias, Joint hyperflexi...	ORPHA:3134
Silver-Russell Syndrome	Relative macrocephaly, Sandal gap, Hypospadias, Upper limb asymmetry, Abnormal appendicular skele...	ORPHA:813
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent radius, Short ...	OMIM:600901
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Delayed closure of the an...	ORPHA:2834
Wilson Disease	Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Osteomalacia, A...	OMIM:277900
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia, Microcephaly	ORPHA:621
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab...	ORPHA:740
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Mitral valve...	OMIM:605822
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Rib fusion,...	OMIM:134780
Marshall-Smith Syndrome	Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Death in childhood...	OMIM:602535
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Patent ductus arteriosus, Hypopl...	OMIM:607143
Hypophosphatemic Rickets And Hyperparathyroidism	Frontal bossing, Rickets, Renal phosphate wasting, Macrocephaly, Hypophosphatemic rickets, Rachit...	OMIM:612089
Digeorge Syndrome	Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Femoral hernia, Patent d...	OMIM:188400
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing	OMIM:138930
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Renal ...	ORPHA:536467
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Inguinal hernia, Overlapping toe, Tapered finger, Microcephaly, 2-3 toe syndacty...	OMIM:618653
Curry-Jones Syndrome	Bicoronal synostosis, Occipital meningocele, Wormian bones, Duplication of thumb phalanx, Preaxia...	OMIM:601707
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia o...	ORPHA:3404
Momo Syndrome	Frontal bossing, Cutis marmorata, Brachycephaly, Femoral bowing, Abnormal bone ossification, Larg...	ORPHA:2563
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve...	ORPHA:324410
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Radial club hand, Microcephaly	ORPHA:2165
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac...	OMIM:607765
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote...	OMIM:309000
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Fragile skin, Cardiomyopathy, Clinoda...	ORPHA:158687
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Mitral valve calcification, Cyanosis, Hematuria, Hypoxemia...	ORPHA:60025
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin...	ORPHA:2995
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Cyanosis, Osteomalacia, Card...	ORPHA:51608
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Decreased sku...	ORPHA:93325
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Flexion contracture, Hepatic hemangioma, Hypoplastic iliac wing,...	OMIM:180849
Primary Hyperoxaluria	Hyperoxaluria, Cutis marmorata, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, G...	ORPHA:416
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Pentalogy Of Cantrell	Omphalocele, Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ven...	ORPHA:1335
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Intrauterine growth retardation, Osteopetrosis	OMIM:618541
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Midface retrusion...	OMIM:112240
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Patent foramen ovale, Telangiectases of ...	ORPHA:576
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Generalized joint laxity, Hypermobility of interphalangeal joints, Short p...	ORPHA:508498
Intellectual Developmental Disorder, Autosomal Recessive 65	Inguinal hernia, Prominent metopic ridge, Hypospadias, Secundum atrial septal defect, Contracture...	OMIM:618109
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Joint stiffness, Missi...	ORPHA:3027
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Cutis marmorat...	ORPHA:183
20Q11.2 Microduplication Syndrome	Inguinal hernia, Prominent metopic ridge, Trigonocephaly, Microcephaly, Brachycephaly, Short foot...	ORPHA:363659
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Brachycephaly, Renal cyst, Abnormality of the liv...	ORPHA:1606
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist...	OMIM:268300
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Oliguria, Anemia,...	ORPHA:90051
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Brachycephaly, Lambdoidal...	OMIM:618736
Restrictive Dermopathy 1	Ureteral duplication, Prominent superficial blood vessels, Flexion contracture, Overtubulated lon...	OMIM:275210
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu...	OMIM:192350
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Tenorio Syndrome	Osteopenia, Joint laxity, Enuresis, Macrocephaly, Delayed cranial suture closure	OMIM:616260
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Non-acidoti...	OMIM:222448
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Atrial septal defect, Ecchymosis, Joi...	OMIM:601776
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena...	ORPHA:18
Koolen-De Vries Syndrome	Atrial septal defect, Recurrent urinary tract infections, Vertebral fusion, Bicuspid aortic valve...	OMIM:610443
Congenital Myasthenic Syndrome	Joint laxity, Arthrogryposis multiplex congenita, Congenital hip dislocation, Cyanosis	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Arthrogryposis multiplex congenita, Congenital hip dislocation, Cyanosis	ORPHA:98914
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus, Microcephaly	OMIM:150260
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Acce...	ORPHA:564
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis, Cellulitis, Acrocyanosis	ORPHA:3165
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Microcephaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ane...	OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
3Mc Syndrome 2	Hypospadias, Limited elbow movement, Craniosynostosis, Hip dislocation, Horseshoe kidney, Radioul...	OMIM:265050
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Inguinal hernia, Sandal gap, Camptodactyly of finger, Prominent met...	ORPHA:261349
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Weakness of the intrinsic hand muscles, Weakness of long finger extensor muscles, Shoul...	ORPHA:98913
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agen...	OMIM:264480
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Flat occiput, Hypospadias, En...	ORPHA:2211
Gapo Syndrome	Hepatomegaly, Frontal bossing, Prominent scalp veins, Delayed cranial suture closure, Delayed clo...	OMIM:230740
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Cyanosis, Renal steatosis, Increased hepatic echogenicity, Hepatic steat...	OMIM:261680
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Prominent metopic ridge, Microcephaly, Intrahe...	ORPHA:46059
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Joint subluxation, Expanded metaca...	OMIM:182250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinur...	OMIM:201475
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of h...	OMIM:256040
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Renal agenesis, Aplastic anemia, Absent thumb, Paten...	OMIM:300514
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog...	OMIM:601005
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Widely patent fontanelles and sutures, Short clavicles, Macrocephaly	OMIM:168550
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de...	OMIM:136140
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Cutis marmorata, Calcium oxal...	OMIM:259900
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormality of the palmar crea...	OMIM:618652
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial...	ORPHA:904
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Microcephaly, Oliguria, Cardiomyopathy	ORPHA:159
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Absent radius, Patent ductus arteriosus, Biliary atres...	OMIM:115470
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Delayed closure of the anterior fontanelle, Macrocephaly, Thicken...	OMIM:127000
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Microcephaly, Elbow dislocation, Irregular femoral epiphysis, Patellar a...	OMIM:613805
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th...	ORPHA:488434
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Limitation of joint mobility, Erythema, Lymphadenopathy, Urticaria, Ar...	ORPHA:343
Scarf Syndrome	Inguinal hernia, Coronal craniosynostosis, Perineal hypospadias, Short sternum, Lambdoidal cranio...	OMIM:312830
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Pancytopenia, Port...	OMIM:613658
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Cutis marmorata, Microcephaly, Cardiomegaly, Neonatal a...	ORPHA:51
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Short metatarsal, Palm...	OMIM:216340
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Abnormality of the kidney, Microcephaly...	ORPHA:495818
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Clubbing, ...	ORPHA:244
Omodysplasia 1	Short humerus, Frontal bossing, Rhizomelia, Increased fibular diameter, Ventricular septal defect...	OMIM:258315
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Neurogenic bladder, Prominent metopic ridge, Ventricular septal defe...	ORPHA:488632
Alpha-N-Acetylgalactosaminidase Deficiency	Vascular skin abnormality, Cardiomegaly, Oligosacchariduria	ORPHA:3137
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat...	OMIM:212140
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Prominent metopic ridge, Ventricular septal defect, M...	ORPHA:2789
Parietal Foramina 1	Parietal foramina, Encephalocele, Wormian bones, Macrocephaly	OMIM:168500
Esophageal Atresia	Omphalocele, Cyanosis, Ventricular septal defect, Renal agenesis, Laryngotracheomalacia, Abnormal...	ORPHA:1199
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single...	OMIM:303600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Narrow joint spaces of the elbow, Syndactyly, Frontal bossing, Hypospadias...	ORPHA:96182
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi...	OMIM:131300
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Petechiae, Microcephaly, Splenomegaly, Thrombocytopenia, Erythema, Cardiomyopathy, ...	OMIM:225750
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:90674
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Hypoplasia of...	ORPHA:3015
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Microcephaly, Hypoplasia of the radius, Patent ductu...	OMIM:617247
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab...	ORPHA:555874
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microvesicular hepatic steatosis, Flexion contracture, Knee flexion contracture, Increased head c...	OMIM:300868
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Hypospadias, Ventricular septal defect, Tracheomalacia, Microcephaly, Patent ductu...	ORPHA:444077
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos...	OMIM:616580
Coffin-Siris Syndrome 12	Joint laxity, Frontal bossing, Midface retrusion, Hypospadias, Microcephaly, Dolichocephaly, Shor...	OMIM:619325
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Thin calvarium, Midface retrusion, Delayed cranial suture closure	ORPHA:1129
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Joint stiffness	ORPHA:2400
Pitt-Hopkins Syndrome	Single transverse palmar crease, Tapered finger, Microcephaly, Hiatus hernia, Broad fingertip, Sh...	ORPHA:2896
Ogden Syndrome	Frontal bossing, Inguinal hernia, Ventricular septal defect, Broad hallux, Delayed cranial suture...	ORPHA:276432
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Congenital malformation of the left heart, Wide penis, Vesicoureteral reflux, Dilatat...	ORPHA:3455
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Proboscis Lateralis	Ventricular septal defect, Unilateral renal agenesis, Proboscis, Patent ductus arteriosus, Ureter...	ORPHA:141099
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Brachycephaly, Hypoplasia of the thymus, Pari...	OMIM:264090
Familial Dysautonomia	Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Recurrent fractures, Abnorma...	ORPHA:1764
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly...	OMIM:257850
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Asplenia, Short th...	OMIM:164280
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Cyanosis, Hypospadias, Microcepha...	OMIM:252010
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ...	ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrocephaly, Cardiomegaly	OMIM:300886
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Brachycephaly, Posterior rib fusion, Neo...	OMIM:265380
12Q14 Microdeletion Syndrome	Intrauterine growth retardation, Osteopoikilosis	ORPHA:94063
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hepatomegaly, Short femur, Hypospadias, Hepatic steatosis, Abnormal renal collecti...	ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 36	Microcephaly, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoxemia, Clubbing...	ORPHA:199241
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Atrial septal defect, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, V...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Atrial septal defect, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, V...	ORPHA:352665
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem...	OMIM:229850
Cardiac Valvular Dysplasia 1	Inguinal hernia, Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid steno...	OMIM:212093
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Relative macrocephaly, Thickened calvaria, Frontal bossing, Ventricular septal def...	OMIM:300967
Pulmonary Arteriovenous Malformation	Cyanosis, Liver abscess, Clubbing, Telangiectasia, Hypoxemia, Iron deficiency anemia, Bacterial e...	ORPHA:2038
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis, Clubbing	OMIM:265120
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Microcephaly, Erythema, Urtica...	ORPHA:2135
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Co...	OMIM:618886
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard...	OMIM:619657
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Inguinal hernia, Elbow dislocation, Genital hernia, Cystocele, Hip dislocation...	ORPHA:285
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Overriding aorta, Single transverse p...	OMIM:616145
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia	OMIM:250790
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis	ORPHA:94089
Craniolenticulosutural Dysplasia	Osteopenia, Frontal bossing, Joint laxity, Delayed closure of the anterior fontanelle, Wide anter...	OMIM:607812
Monosomy 9Q22.3	Palmar pits, Abnormal rib morphology, Cardiac fibroma, Joint hyperflexibility, Polydactyly, Metop...	ORPHA:77301
Neu-Laxova Syndrome 1	Micromelia, Calcaneovalgus deformity, Neonatal death, Pterygium, Patent foramen ovale, Finger syn...	OMIM:256520
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Microcephaly	OMIM:619580
Truncus Arteriosus	Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus...	ORPHA:3384
Mohr Syndrome	Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys...	OMIM:252100
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Brachycephaly, ...	OMIM:135900
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae	OMIM:602473
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis	OMIM:259720
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone m...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone m...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone m...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone m...	ORPHA:881
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
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
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Death in childhood, Macroce...	OMIM:268800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Thrombocytopenia, Reticulocytopeni...	ORPHA:508542
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma...	ORPHA:227990
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Intrau...	ORPHA:33364
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis, Clubbing	OMIM:610910
Okamoto Syndrome	Omphalocele, Prominent metopic ridge, Ventricular septal defect, Urinary incontinence, Microcepha...	ORPHA:2729
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma...	ORPHA:227982
Acute Interstitial Pneumonia	Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Reduced hematocrit	ORPHA:79126
Opitz Gbbb Syndrome	Omphalocele, Atrial septal defect, Enlarged ovaries, Inguinal hernia, Hypospadias, Ventricular se...	ORPHA:2745
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ayme-Gripp Syndrome	Pericarditis, Tapered finger, Brachycephaly, Radioulnar synostosis, Camptodactyly, Craniofacial a...	OMIM:601088
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmo...	ORPHA:3426
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Prominent occiput, Atrial septal defect, Overlapp...	ORPHA:79330
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumatoid arthri...	ORPHA:589
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Surfactant Metabolism Dysfunction, Pulmonary, 3	Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death	OMIM:610921
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Premature graying of ha...	OMIM:194050
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, A...	ORPHA:226307
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Microcephaly	OMIM:250800
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy, Int...	OMIM:617713
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fi...	ORPHA:99106
Turnpenny-Fry Syndrome	Brachycephaly, Prominent interphalangeal joints, Atrial septal defect, Tapered finger, Wide anter...	OMIM:618371
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Abnormality of the kidney, Tapered finger, Microcephaly, Long fingers, C...	ORPHA:521445
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets	OMIM:208000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Severe intrauterine growth retardation, Patchy osteosclerosis	OMIM:241410
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Osteogenesis Imperfecta, Type Xx	Microcephaly, Multiple prenatal fractures, Brachycephaly, Plagiocephaly, Wormian bones, Intrauter...	OMIM:618644
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis	OMIM:255120
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Enamel hypoplasia	OMIM:212750
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ...	OMIM:618052
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab...	ORPHA:90652
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Clubbing	ORPHA:747
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Cyanosis, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:97214
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida	OMIM:207950
High Altitude Pulmonary Edema	Hypoxemia, Leukocytosis, Cyanosis	ORPHA:330012
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Prominent metopic ridge...	OMIM:614188
Cryptogenic Organizing Pneumonia	Hypoxemia, Neutrophilia, Leukocytosis, Cyanosis	ORPHA:1302
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ...	OMIM:619534
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contract...	ORPHA:261537
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Ethylmalonic Encephalopathy	Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Hypoplasia o...	ORPHA:140952
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa...	ORPHA:1329
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst	ORPHA:137675
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Patent ductus arteriosus, Part...	ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Pr...	ORPHA:96191
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Am...	ORPHA:411629
Buerger Disease	Acrocyanosis	ORPHA:36258
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of fing...	ORPHA:1662
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis, Enamel hypoplasia	OMIM:240300
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
6Q Terminal Deletion Syndrome	Hallux valgus, Joint laxity, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Hypospadias...	ORPHA:75857
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Brachycephaly, Atrial septal defect, Clinodactyly of the 5...	OMIM:607872
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contract...	ORPHA:261552
Sanjad-Sakati Syndrome	Severe intrauterine growth retardation, Patchy osteosclerosis	ORPHA:2323
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hema...	ORPHA:31826
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Cutis marmorata, Cardiomegaly, Patent duc...	ORPHA:91387
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, Polysplenia	OMIM:612776
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Macrocephaly, Metopic syno...	OMIM:600775
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Abetalipoproteinemia	Osteopenia, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Talipe...	ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Flexion contracture, Osteoporosis, Oligosacchariduria, Left ventricul...	ORPHA:365
Pseudohypoparathyroidism Type 1A	Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon...	ORPHA:79443
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contract...	ORPHA:2152
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Fle...	OMIM:601803
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Postinfectious Vasculitis	Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Palpa...	ORPHA:48435
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis, Clubbing	OMIM:610913
Sotos Syndrome	Ureteral duplication, Flexion contracture, Increased head circumference, Atrial septal defect, Ve...	ORPHA:821
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Bowing of the legs, Osteoporosis, Osteolysis, Renovascula...	ORPHA:97685
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Atrial septal defect, ...	OMIM:619522
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Hypoplastic pelvis	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Brachycephaly, Atrial septal defect, Clin...	OMIM:612474
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis, Macrocephaly, Cyanosis, Brachydactyly	ORPHA:293987
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Increased bone mineral density	ORPHA:79444
Charge Syndrome	Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, Atrial septal d...	OMIM:214800
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, J...	ORPHA:93111
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Isolated Permanent Neonatal Diabetes Mellitus	Prominent metopic ridge, Ketonuria, Abnormality of the upper urinary tract, Abnormal heart morpho...	ORPHA:99885
Chronic Pneumonitis Of Infancy	Hypoxemia, Mediastinal lymphadenopathy, Cyanosis	ORPHA:91359
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita	OMIM:602398
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Absence Of The Pulmonary Artery	Cyanosis, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Abnormal cardiac sep...	ORPHA:980
Familial Aortic Dissection	Patent ductus arteriosus, Cutis marmorata, Cardiomegaly	ORPHA:229
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Acrocyanosis, Neuropathic arthropathy, Abnormal renal physiology	OMIM:223900
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v...	ORPHA:2041
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left...	OMIM:605376
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Follicular hyperplasia, Splen...	OMIM:619381
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia, Cardiomegaly	OMIM:618838
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus ar...	ORPHA:3427
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Jaundice, Prolonged neonatal jaundice, Midface retrusion, Delayed cranial suture...	OMIM:613038
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocarditis, Erythema, ...	ORPHA:221
Acquired Purpura Fulminans	Acrocyanosis, Thrombocytopenia, Macular purpura	ORPHA:49566
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Abnorma...	ORPHA:141127
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Oeis Complex	Duplicated collecting system, Omphalocele, 11 pairs of ribs, Congenital hip dislocation, Hydroure...	OMIM:258040
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture	OMIM:617239
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Miscarriage, Nail bed ...	OMIM:187300
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast...	OMIM:620067
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi...	OMIM:600376
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Death in infancy, Cyanosis, Microcephaly	OMIM:618426
Unilateral Polymicrogyria	Microcephaly, Cyanosis, Abnormal heart morphology	ORPHA:268943
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Asplenia	OMIM:244400
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Anomalous pulmonary venous return, Right ventricular dilatatio...	ORPHA:99104
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Renal agenesis, Absent radius, Short thumb, Partial duplica...	OMIM:149730
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Hypoplastic...	ORPHA:99050
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density	ORPHA:667
Atrial Septal Defect, Ostium Secundum Type	Right ventricular dilatation, Cyanosis, Abnormal mitral valve morphology, Right atrial enlargement	ORPHA:99103
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano...	ORPHA:1457
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent ...	OMIM:233450
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis,...	OMIM:164210
Medulloblastoma	Progressive macrocephaly, Delayed cranial suture closure	ORPHA:616
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te...	OMIM:610655

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 Amer1

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 Amer1.

No publications found that use IMPC mice or data for Amer1.

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MGI Allele	Allele Type	Produced
Amer1^{tm446144(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Amer1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	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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