Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
human immunodeficiency virus type I enhancer binding protein 3
Synonyms:
Schnurri-3,  Shn3,  2900056N03Rik,  E030045D18Rik,  Krc

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Hivep3 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.

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

The table below shows human diseases predicted to be associated to Hivep3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Testicular Germ Cell Tumor
Choriocarcinoma, Teratoma, Embryonal neoplasm OMIM:273300
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Gonadoblastoma
Gonadoblastoma OMIM:424500
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Neoplasm ORPHA:99926
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Teratoma, Pineal
Teratoma, Polyuria OMIM:273120
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger OMIM:176305
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Osteoporosis
Osteoporosis OMIM:166710
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hepatoblastoma, ... OMIM:269150
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... OMIM:615993
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... OMIM:615996
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux OMIM:617127
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... ORPHA:157798
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... OMIM:617927
Schinzel-Giedion Syndrome
Renal cyst, Tibial bowing, Hepatoblastoma, Micropenis, Myeloid leukemia, Hypospadias, Ependymoma,... ORPHA:798
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... OMIM:602418
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Hydronephrosis, Micromelia ORPHA:85173
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
8P23.1 Duplication Syndrome
Toe syndactyly, Hydronephrosis, Exostoses ORPHA:251076
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... OMIM:613390
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia OMIM:236110
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... ORPHA:2496
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Currarino Syndrome
Vesicoureteral reflux, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias ORPHA:1552
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Cat-Eye Syndrome
Hip dysplasia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly OMIM:613819
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydronephrosis ORPHA:251046
Joubert Syndrome 16
Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Talipes ca... ORPHA:573278
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Postaxial polydactyly OMIM:615985
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Aicardi Syndrome
Proximal placement of thumb, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... OMIM:304050
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Renal agenesis, Foot polydactyly ORPHA:2155
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... OMIM:619218
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Nephroblastoma, Polydactyly, Leukemia, Meningioma OMIM:602501
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Joubert Syndrome 17
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Hamartoma, Polydactyly OMIM:300484
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Recurrent fractures, Osteopetrosis OMIM:611490
Duplication Of The Pituitary Gland
Teratoma ORPHA:314621
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Ap... OMIM:201000
Bardet-Biedl Syndrome 3
Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hip contracture, Elbow flexion contracture, Hydronephrosis ORPHA:85285
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
Desmoid Tumor
Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephr... ORPHA:873
Camptobrachydactyly
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Urete... ORPHA:2437
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta... OMIM:614815
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... OMIM:607323
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Polydactyly OMIM:607361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of t... OMIM:613091
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Hyperextensibility of the finger joints, Congenital hip dislocation, Dislocation ... OMIM:619797
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Hand polydactyly, Foot polydactyly, S... OMIM:258860
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... ORPHA:2473
Laurence-Moon Syndrome
Micropenis, Polydactyly, Abnormality of the hand OMIM:245800
Nevus Comedonicus Syndrome
Hamartoma, Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... OMIM:618142
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Talipes equinovarus... OMIM:100100
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... OMIM:616629
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias ORPHA:141333
Pelger-Huet Anomaly
Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Giant platel... OMIM:169400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... OMIM:613885
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... OMIM:611560
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Rhizomelia, Single transverse palmar crease, Hypospadias, Hemolytic-uremic s... OMIM:611209
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... OMIM:614175
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... OMIM:146510
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... OMIM:618161
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Slender long bone, Hydronephrosis, Brachydactyly OMIM:618265
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Joubert Syndrome 15
Micropenis, Preaxial polydactyly, Nephronophthisis OMIM:614464
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ... ORPHA:2484
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Rocker bottom foot, Coxa valga, Postaxial hand polydac... OMIM:301056
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93260
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, 4-5 toe syndactyly, Humeroradial synostosis... OMIM:260660
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... OMIM:314390
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Limited mobility of ... OMIM:222300
Frontometaphyseal Dysplasia 1
Carpal synostosis, Scapular winging, Bowing of the long bones, Arachnodactyly, Interphalangeal jo... OMIM:305620
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Short middle pha... ORPHA:391641
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Tetraploidy
Radial club hand, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Lym... ORPHA:1225
Trisomy 13
Postaxial hand polydactyly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Ec... ORPHA:3378
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Polydactyly, Clinodactyly, Hydronephrosis, Brachydactyly OMIM:618950
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly OMIM:607131
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Hydronephrosis, Camptodactyly OMIM:179613
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Tetrasomy 15Q26
Arachnodactyly, Hydronephrosis, Horseshoe kidney, Camptodactyly OMIM:614846
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominent fingertip ... OMIM:618494
Zaki Syndrome
Toe syndactyly, Renal agenesis, Long fingers, Ectrodactyly, Broad distal phalanx of finger, Hypop... OMIM:619648
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Hydrone... ORPHA:2083
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly, Hydronephrosis ORPHA:531151
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Flared metaphysis, Limb u... OMIM:616897
Joubert Syndrome 37
Micropenis, Hydronephrosis, Postaxial polydactyly OMIM:619185
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... OMIM:609465
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Poly... ORPHA:314588
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly, Renal cyst OMIM:603194
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... ORPHA:137605
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... ORPHA:90652
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... OMIM:277170
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... DECIPHER:81
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Tapered finger ORPHA:1920
Joubert Syndrome 23
Polydactyly OMIM:616490
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p... OMIM:236700
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... ORPHA:261344
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r... OMIM:268310
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly OMIM:615761
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... ORPHA:2092
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis OMIM:620141
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... ORPHA:314585
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Vesicoureteral reflux, Short foot, Hydronephrosis, Hand pol... ORPHA:250989
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy... OMIM:219730
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sandal gap, Glioma, Rhabdomyosar... OMIM:251260
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus, Clinodactyly ... ORPHA:397590
3C Syndrome
Finger syndactyly, Brachydactyly, Hypoplasia of penis, Hypospadias, Hand polydactyly, Abnormal hi... ORPHA:7
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, A... ORPHA:568
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Trisomy 17P
Hypoplasia of penis, Urethral valve, Tapered finger, Urethral stenosis, Polycystic kidney dysplas... ORPHA:261290
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Hydronephrosis OMIM:220210
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, 4-5 toe ... OMIM:300707
Hogue-Janssen Syndrome 2
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Deviation of the 5... OMIM:616362
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic... OMIM:608836
Retinitis Pigmentosa 89
Postaxial polydactyly, Hepatosplenomegaly OMIM:618955
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Single transverse palmar crease, Intermittent thrombocytopeni... OMIM:612541
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Orofaciodigital Syndrome Type 1
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... ORPHA:2750
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock... OMIM:272950
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Radioulnar syn... ORPHA:85201
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Hypospadias, Abnormality of thumb ph... ORPHA:235
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Hemangioma, Hydronephrosis ORPHA:1297
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... OMIM:616737
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... ORPHA:2886
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th... ORPHA:464738
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... ORPHA:99776
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Gonadoblastoma, Nephropathy, Nephroblastoma OMIM:194072
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoure... OMIM:618460
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Preaxial hand... ORPHA:261318
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Neoplasm, Hepatoblastoma, ... ORPHA:373
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... ORPHA:264450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope... ORPHA:163979
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc... OMIM:618975
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Micropenis, Joint c... OMIM:612513
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... OMIM:101200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Small hand, Horseshoe kidney, Short foot, Cutaneous finge... OMIM:235510
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia,... ORPHA:2754
Campomelic Dysplasia
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... ORPHA:140
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Coxa valga, Tapered finger, Reduced alpha/beta synthesis ratio, Hypo... OMIM:301040
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme... ORPHA:1896
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, P... OMIM:176450
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... ORPHA:2796
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Down-sloping shoulders, Palmar ... OMIM:109400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Cubitus valgus, Ureteral triplication, Hydronephrosis OMIM:104350
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of finger, Talipes... ORPHA:1358
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hydronephrosis, H... OMIM:300968
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... ORPHA:2909
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Overlapping toe, Postaxial polydactyly, Tapered finger OMIM:613792
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac... ORPHA:2461
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc... OMIM:309350
Intellectual Disability, Buenos-Aires Type
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Hydronephrosis ORPHA:3079
Rhombencephalosynapsis
Finger syndactyly, Abnormal renal morphology, Polydactyly, Complete duplication of thumb phalanx,... ORPHA:59315
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgu... ORPHA:101000
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Camptodactyly, Flexion contracture of... ORPHA:254528
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Postaxial polydactyly, Unilateral renal agenesis, Splenomegaly, Hip dysplasia, Prox... OMIM:614576
Chime Syndrome
Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Koolen-De Vries Syndrome
Ureteral duplication, Arachnodactyly, Hypospadias, Hip dislocation, Vesicoureteral reflux, Hydron... ORPHA:96169
Vater/Vacterl Association
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... OMIM:192350
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add... ORPHA:261349
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... ORPHA:49041
Noonan Syndrome 4
Cubitus valgus, Ureteral duplication, Hydronephrosis, Thrombocytopenia OMIM:610733
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subc... OMIM:613001
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Me... OMIM:214100
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis ORPHA:449400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... ORPHA:2636
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly OMIM:616562
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... OMIM:304120
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... ORPHA:847
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... ORPHA:35173
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Renal cyst... ORPHA:464306
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hepatosplenomegaly, Hydronephrosis, Drumstick terminal phalanges ORPHA:541423
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Mo... OMIM:619269
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... ORPHA:221016
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Vesicoureteral reflux, Narrow pelvis bone, Deep palmar... ORPHA:96061
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Bladder carcinoma, Genu... OMIM:304150
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen... ORPHA:221008
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Long fingers, Hip dislocation, Abnormality of the urinary system, Clin... ORPHA:96092
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... OMIM:614099
Webb-Dattani Syndrome
Neurogenic bladder, Hip dislocation, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Facial capillary hemangioma, Finger syndactyly,... ORPHA:818
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Joint stiffness OMIM:230600
Craniofacioskeletal Syndrome
Hypospadias, Small hand, Short foot, Short palm, Clinodactyly of the 5th finger, Narrow iliac win... OMIM:300712
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly OMIM:616449
Distal Deletion 12Q
Broad hallux, Single transverse palmar crease, Overlapping toe, Ectopic kidney, Pituitary adenoma... ORPHA:96149
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Smith-Lemli-Opitz Syndrome
Micromelia, Facial capillary hemangioma, Proximal placement of thumb, 2-3 toe cutaneous syndactyl... OMIM:270400
Musculocontractural Ehlers-Danlos Syndrome
Decreased palmar creases, Tapered finger, Slender finger, Functional abnormality of the bladder, ... ORPHA:2953
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Postaxial hand polydactyly, Abnormal renal morphology, Hepatosplenomegaly, Micropen... ORPHA:1655
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Brachydactyly ORPHA:457193
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac bones, Preaxial polydactyly... OMIM:616300
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Long fingers, Finger joint hypermobility, Ureteropelvic junction obstr... OMIM:617557
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... OMIM:614080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Postaxial hand polydactyly, Hydronephrosis, Micropenis OMIM:235255
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... OMIM:613848
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Hypotrophy of the small hand muscles, Narrow palm, Hip disloc... OMIM:610443
Sotos Syndrome
Ureteral duplication, Astrocytoma, Neoplasm, Vesicoureteral reflux, Hypospadias, Abnormality of t... ORPHA:821
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Vesicoure... ORPHA:261494
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Nephrocalcinosi... OMIM:617913
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Dilatation of the ren... OMIM:616580
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis OMIM:243605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Vesicoureteral reflux, Micropenis, Pelvic ki... OMIM:618653
Zellweger Syndrome
Epiphyseal stippling, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Palmar pits, Medulloblasto... ORPHA:77301
Hyperphosphatasia-Intellectual Disability Syndrome
Clinodactyly, Hip dysplasia, Hydronephrosis, Shortening of all distal phalanges of the fingers ORPHA:247262
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Orofaciodigital Syndrome V
Sandal gap, Hamartoma of tongue, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kid... OMIM:174300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Broad 2nd toe, Palmoplantar hyp... OMIM:280000
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis, Anemia ORPHA:2315
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Renal cyst, Short foot, Pelvic... ORPHA:464311
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Renal duplication, ... OMIM:180700
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Splenomegaly, Overlapping fingers, Hydronephrosis, Adducted thumb OMIM:608779
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Short toe,... ORPHA:2308
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal dysplasia, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial poly... ORPHA:397715
Floating-Harbor Syndrome
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Short middle pha... OMIM:136140
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli... OMIM:305600
3Mc Syndrome 3
Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar synostosis, Clinodactyly, Penoscro... OMIM:248340
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, Hypertrophy of t... ORPHA:280633
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split... OMIM:604292
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic heman... OMIM:180849
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Clinodactyly of the 5th finger,... ORPHA:2059
Trisomy 18
Camptodactyly of finger, Abnormality of the upper urinary tract, Postaxial hand polydactyly, Devi... ORPHA:3380
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... ORPHA:487796
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Hypospadias, Renal agenesis, Avascular necrosis of the capital f... ORPHA:2044
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Short femur, Hydronephrosis, Genu valgum OMIM:617798
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... OMIM:603671
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Splenomegaly, Cavernous hemangioma, Deep palmar crease, ... OMIM:115150
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Short foot, Mi... OMIM:618454
Fryns Syndrome
Ureteral duplication, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, ... OMIM:229850
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hypospadias, Short greater ... OMIM:312870
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplastic spleen,... OMIM:601186
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
3Mc Syndrome 1
Single interphalangeal crease of fifth finger, Short foot, Radioulnar synostosis, Short 5th finge... OMIM:257920
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Bardet-Biedl Syndrome 1
Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:209900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormal tibia morphology, Schwannoma, Abnormal renal morphology, Ossif... ORPHA:363700
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... OMIM:619471
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Alg9-Cdg
Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomelia, Ureteral hypoplasia, Flared m... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Cavernous hemangioma, Genu valgum, Deep palmar crease, Palmoplantar ... ORPHA:1340
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Hydr... ORPHA:35687
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Raine Syndrome
Bowing of the long bones, Hydroureter, Micromelia, Long hallux, Hydronephrosis, Brachydactyly OMIM:259775
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split... OMIM:129900
Oeis Complex
Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Epispadias... OMIM:258040
Cat Eye Syndrome
Renal agenesis, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis OMIM:115470
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Broad toe, Hypospadias, Single transverse palmar crease, Urinary incontinence... OMIM:619522
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, ... OMIM:616546
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract ORPHA:2995
Congenital Sialidosis Type 2
Polydactyly, Abnormality of the kidney, Hepatosplenomegaly ORPHA:93400
Robinow Syndrome
Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Bifid distal phalanx of the thumb, Mesom... ORPHA:97360
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Tapered finger, Slender long bone, Ureteropelvic junction obstru... ORPHA:444072
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness OMIM:277600
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Tapered finger, Narrow palm, Hand clenching, Ureteropelvic junction obstructi... OMIM:616973
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Proximal renal tubular acidosis, Nephrolithiasis, Anemia, Leukopenia, Renal tubular... ORPHA:2785
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Deep palmar crease, Polydactyly, Pelvic kidney, Camptodactyly, C... OMIM:247200
Orofaciodigital Syndrome I
Syndactyly, Proteinuria, Hamartoma of tongue, Short 2nd toe, Polydactyly, Radial deviation of fin... OMIM:311200
Adnp Syndrome
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Ur... ORPHA:404448
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Anomaly of lower limb diaphyses, Recurrent urinary tract infections, Arachno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Anomaly of lower limb diaphyses, Recurrent urinary tract infections, Arachno... ORPHA:363958
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Horseshoe kidney, Cone-shaped ep... OMIM:617088
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi... OMIM:619297
7Q11.23 Microduplication Syndrome
Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Long fingers, Enuresis, ... ORPHA:96121
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Overlapping fingers... OMIM:300960
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia... ORPHA:353277
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the phalanges of the 2nd... ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contr... ORPHA:83617
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... OMIM:610682
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Broad hallux, Hypospadias, Avascular necrosis of the capital ... ORPHA:353281
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Sandal gap, Single transverse palmar crease, Hypoplasia of the thymus, Multiple... OMIM:613177
Meckel Syndrome, Type 1
Accessory spleen, Syndactyly, Bowing of the long bones, Hypoplasia of the bladder, Renal agenesis... OMIM:249000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Arboleda-Tham Syndrome
Brachydactyly, Recurrent urinary tract infections, Sandal gap, Deviation of the hallux, Short hal... OMIM:616268
Coffin-Siris Syndrome 1
Hydroureter, Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the ... OMIM:135900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv... ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Hip dysplasia, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication... OMIM:236680
Joubert Syndrome 14
Renal cyst, Postaxial polydactyly OMIM:614424
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Syndactyly, Hypospadias, Congenit... OMIM:619488
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality... ORPHA:1606
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Pallister-Hall Syndrome
Ectopic kidney, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypospadias, Midline facial cap... ORPHA:672
Culler-Jones Syndrome
Micropenis, Postaxial polydactyly OMIM:615849
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Renal dysplasia, Congenital hip dislocation, Overlapping toe, Postaxial polydactyl... ORPHA:480880
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Hamartoma of tongue, Preaxial polydactyly, Hypoplastic pubic bone, Fibular... OMIM:617925
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Pilomatrixoma, Small h... ORPHA:3310
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
White-Kernohan Syndrome