Gene Summary

pleckstrin homology domain containing, family M (with RUN domain) member 1
AP162,  B2,  D330036J23Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 6.29×10-14
short tibia Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 5.34×10-12
decreased prepulse inhibition Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 1.91×10-16
abnormal vertebrae morphology Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 1.58×10-05
increased bone mineral content Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 1.08×10-10
increased circulating alanine transaminase level Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 1.83×10-07
increased bone mineral density Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 3.07×10-16
polycystic kidney Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal optic disk morphology Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 2.88×10-06
increased circulating aspartate transaminase level Plekhm1tm1b(EUCOMM)Hmgu HOM Early adult 5.06×10-15

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Whole Body Dorso Ventral

11 Images


XRay Images Skull Lateral Orientation

11 Images


XRay Images Skull Dorso Ventral Orientation

11 Images

Combined SHIRPA and Dysmorphology


2 Images



5 Images

Gross Pathology and Tissue Collection


9 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Plekhm1 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.

The table below shows human diseases associated to Plekhm1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cranial nerve ... ORPHA:210110
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 3
Anemia, Osteopenia, Recurrent fractures, Splenomegaly OMIM:618107

The table below shows human diseases predicted to be associated to Plekhm1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional... ORPHA:566943
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Connective tissue nevi, Flexion contractu... OMIM:166700
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Sclerotic vertebral endplates, Clavicular sclerosis, Metaphyseal dysplas... OMIM:615198
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... ORPHA:564003
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Keloids, Limitation of joint mobility, Abnormal pelvis bone o... ORPHA:166119
Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,... ORPHA:3152
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, A... ORPHA:1988
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Complete duplication of the distal phalanges... ORPHA:1879
Low back pain, Increased bone mineral density OMIM:166450
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column OMIM:602475
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cranial nerve ... ORPHA:210110
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... ORPHA:3416
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Rod-cone dystrophy, ... OMIM:136300
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Pes cavus, Claw hand deformity, Optic disc pallor, Hammertoe OMIM:618511
Van Buchem Disease
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... OMIM:239100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Slender finger, Anisospondyly, Hemiatrophy of upper limb, Hypopigmentation of the ... ORPHA:163649
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Meckel Syndrome 13
Flexion contracture, Micrognathia, Polycystic kidney dysplasia, Retinopathy OMIM:617562
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Renal cyst, O... OMIM:109130
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... ORPHA:90650
Ribose 5-Phosphate Isomerase Deficiency
Increased level of ribose in urine, Optic atrophy, Increased level of D-threitol in urine, Elevat... OMIM:608611
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Hyperechogenic kidneys, Preaxial polydactyly, Vertebral... OMIM:617866
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Polycystic ... OMIM:614859
Platyspondyly, Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ab... ORPHA:1782
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial... OMIM:122860
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Stage 3 chronic kidney disease, Elevated circulating cre... OMIM:620366
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial para... OMIM:166600
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal epiphysis morphology, Microme... ORPHA:628
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... OMIM:619217
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Kyphosis, Increased bone mineral density, Angio... OMIM:239000
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy... ORPHA:2114
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic... OMIM:620076
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of the urinary system, Abnormal cortical bone morphology, Limb undergrowth, Abnormal ... ORPHA:2204
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Congenital diaphragmatic hernia, Decreased skull ossification, Narrow greater sciat... OMIM:263210
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Recurrent fractures, Osteopetrosis, Optic disc pall... OMIM:611490
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Increased circula... ORPHA:356961
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Increased bone mineral density OMIM:265880
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Flared metaphysis, Sandwich appearance of vertebral bodies, Path... OMIM:259700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Pes cavus, Peripheral axonal neuropathy, Talipes equinovarus, Decreased number of ... OMIM:617087
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Dentinogenesis imperfecta, Platyspondyly, Umbilical hernia, Increased bone min... OMIM:614856
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Albers-Schönberg Osteopetrosis
Optic atrophy, Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morph... ORPHA:53
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Atypical scarring of skin, Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle ... ORPHA:2485
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... OMIM:607634
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A... OMIM:224300
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Sclero... ORPHA:289176
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Short neck, Polycystic kidney dysplasia... OMIM:613885
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Short distal phalanx of finger, Joint hypermobility, Brachydactyly, Osteoporosis ORPHA:2787
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Abnormali... OMIM:200980
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Kyphosis, Hypocholesterolemia, Short neck, Lipodystrophy, Polycystic kidney dysp... OMIM:608776
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Retinal degeneration, Polyda... OMIM:615993
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generaliz... OMIM:215045
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Rhyns Syndrome
Osteopenia, Multicystic kidney dysplasia, Nephronophthisis, Hypoplastic ilia, Small epiphyses, Ab... ORPHA:140976
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Hajdu-Cheney Syndrome
Micrognathia, Genu valgum, Fibular bowing, Absent frontal sinuses, Crowded carpal bones, Short ne... OMIM:102500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Micromelia, Polydactyly, ... OMIM:614091
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Micrognathia, Nephroblastoma, Hernia, Hydroneph... ORPHA:314588
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Retinal dege... OMIM:602271
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velo... OMIM:609260
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
X-Linked Hypophosphatemia
Cellulitis, Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the lon... ORPHA:89936
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, S... OMIM:616394
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Renal dysplasia, Tapered toe, Elevated circulating creatinine concen... OMIM:608836
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Lamb-Shaffer Syndrome
Optic atrophy, Clinodactyly, Long hallux, Overlapping toe, Pes planus, Vertebral clefting, Long f... OMIM:616803
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe ORPHA:320396
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Hepatic cysts, Renal ... OMIM:618061
Trisomy 17P
Scoliosis, Micrognathia, Hydronephrosis, Talipes, Tapered finger, Short neck, Clinodactyly of the... ORPHA:261290
Bardet-Biedl Syndrome 4
Polydactyly, Retinal degeneration, Renal cyst, Brachydactyly, Abnormality of the kidney, Rod-cone... OMIM:615982
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Hypocalcemia, Short humerus, Short ribs... OMIM:607143
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Pigmentary retinopathy, Micrognathia, Optic nerve d... OMIM:214110
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300554
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr... ORPHA:168549
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubu... ORPHA:56305
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Epidermal Nevus Syndrome
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Lipoma, Polycystic kidney dysplasia ORPHA:35125
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Hypercholanemia, Familial 1
Rickets OMIM:607748
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, In... ORPHA:94089
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Multiple renal cysts, Na... ORPHA:66637
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Enamel hypomineralization, Genu valgum, Fibular bowing, Hy... OMIM:307800
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300009
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long... ORPHA:3103
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Camurati-Engelmann Disease
Cranial nerve compression, Sclerosis of skull base, Optic nerve compression, Genu valgum, Reduced... OMIM:131300
15q26 overgrowth syndrome
Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kidney, Micrognat... DECIPHER:81
Small hand, Acromelia, Hypoplastic iliac wing, Micrognathia, Short foot, Coronal craniosynostosis... ORPHA:763
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Umbilical hernia, Hiatus hernia, Renal cyst, Sagittal craniosynostosis, Thoracolumbar... OMIM:610199
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, Cranial nerve co... OMIM:259710
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Increased circulating very long-chain fatty acid concentra... OMIM:614866
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal denta... ORPHA:1798
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomala... ORPHA:93160
Meckel Syndrome 14
Postaxial foot polydactyly, Microretrognathia, Micrognathia, Decreased calvarial ossification, Ta... OMIM:619879
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Macular dege... OMIM:120330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Optic atrophy, Platyspondyly, Erlenmeyer flask deformity of the femurs,... OMIM:618476
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Joint hypermobility, Bowing of the long bones, Renal cyst, Tali... OMIM:614815
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Bowing of the long ... ORPHA:90652
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain, Increased total bilirubin OMIM:174050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial pol... OMIM:616300
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hyperbilirubinemia, Hip contr... OMIM:210710
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity ORPHA:73229
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly OMIM:258865
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... ORPHA:1190
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Renal agenesis, Clinodactyly, Joint hypermobility, Renal cyst... OMIM:615583
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Nephrocalcinosis, Retinal crystals, Pathologic fract... OMIM:259900
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Scoliosis, Facial hyperostosis, Micrognath... ORPHA:2780
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Schwartz-Jampel Syndrome
Abnormality of the ureter, Micrognathia, Genu valgum, Hip contracture, Bowing of the long bones, ... ORPHA:800
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Platyspondyly, Postaxial polysyndactyly of foot, Preaxial ha... OMIM:263520
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cranial nerve morphology, Osteopetrosis, Facial palsy, Abnorm... ORPHA:1522
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... ORPHA:198
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis, Diaphyseal undertubulation ORPHA:1513
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Roifman-Chitayat Syndrome
Optic atrophy, Osteopenia, Cone-shaped epiphysis, Umbilical hernia, Short neck, Arthritis, Short ... OMIM:613328
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Juvenile Paget Disease
Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Abnormality of retinal... ORPHA:2801
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Micrognathia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Abnormal h... ORPHA:1166
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger sy... OMIM:102510
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Stage 5 chronic ... OMIM:615994
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,... ORPHA:2658
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti... OMIM:113650
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Optic disc coloboma, Retinal coloboma, Vesicouret... ORPHA:1475
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:89937
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Unossified sacrum, Tracheomalacia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Micro... OMIM:608022
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal, Patellar dis... OMIM:620662
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Postaxial polydactyly, Renal cyst,... OMIM:611560
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Micrognathia, ... ORPHA:1427
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Arima Syndrome
Optic atrophy, Nephronophthisis, Postaxial foot polydactyly, Chorioretinal coloboma, Stage 5 chro... OMIM:243910
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Phelan-Mcdermid Syndrome
Cellulitis, Micrognathia, Vesicoureteral reflux, Joint hypermobility, 2-3 toe syndactyly, Abnorma... OMIM:606232
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Renal insufficiency, Elevated circulating creatine kinase concentr... OMIM:611773
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Bulgi... OMIM:241530
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta... OMIM:614500
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... OMIM:123000
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,... OMIM:258315
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Protei... ORPHA:77297
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Sclerosi... OMIM:602080
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Aplastic clavicle, Spondylolysis, Micrognathia, Spondylolisthesis, Absent frontal sinuses, Brachy... OMIM:265800
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Absent Achilles reflex, Pes cavus, Motor axonal neuropa... OMIM:609541
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Microretrognathia, Ureteral agenesis, 2-3 toe syndactyly, Renal cyst, Talipes e... OMIM:236500
Isolated Polycystic Liver Disease
Multiple renal cysts, Back pain, Increased total bilirubin ORPHA:2924
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Congenital diaphragmatic h... OMIM:616546
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone min... ORPHA:36913
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... OMIM:108721
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Pes cavus, Increased bone mineral density, Coxa valga OMIM:616943
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Micrognathia, Elevated circulating creatine kinase concent... OMIM:615042
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Primary Hyperoxaluria
Chronic kidney disease, Optic atrophy, Choroidal neovascularization, Aciduria, Nephrocalcinosis, ... ORPHA:416
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Short neck, Calcinosis,... ORPHA:79443
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Opt... OMIM:608940
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal form of the v... ORPHA:1834
Werner Syndrome
Small hand, Chondrocalcinosis, Joint stiffness, Abnormality of retinal pigmentation, Lipodystroph... ORPHA:902
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... OMIM:603860
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Joint hypermobility, Multiple renal cysts ORPHA:3033
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Flared metaphysis, Micrognathia, Hyperbilirubinemia, Hypocal... OMIM:259720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Short... ORPHA:96334
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormal vertebral morphology, Neurofibroma, Abnormal foot morphology, P... ORPHA:352540
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly, Retinopathy OMIM:614970
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... OMIM:300232
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Kyphosis, Radial bowing, Slender long bone,... OMIM:610915
Joubert Syndrome 39
Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Retinal ... OMIM:619562
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Hernia, Talipes, Short neck, Abnormal... ORPHA:261318
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy, Polydactyly OMIM:614465
Distal Deletion 12Q
Broad hallux, Elbow flexion contracture, Long foot, Overlapping toe, Micrognathia, Vesicoureteral... ORPHA:96149
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary ... ORPHA:958
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Marinesco-Sjögren Syndrome
Optic atrophy, Avascular necrosis of the capital femoral epiphysis, Abnormal circulating creatine... ORPHA:559
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal optic disc mo... ORPHA:363417
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu ... OMIM:613848
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Postaxial foot polydactyly,... OMIM:249000
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphyseal sclerosis, S... ORPHA:2905
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, M... ORPHA:3404
Raine Syndrome
Hydroureter, Micromelia, Long hallux, Micrognathia, Hydronephrosis, Bowing of the long bones, Sho... OMIM:259775
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis... ORPHA:94063
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... OMIM:617925
22Q11.2 Deletion Syndrome
Micrognathia, Arachnodactyly, Talipes equinovarus, Short neck, Patellar dislocation, Foot polydac... ORPHA:567
Say Syndrome
Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Proximal renal t... OMIM:181180
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal insufficiency, Vesicoureteral reflux, Hypocalcemia, Hydronephros... ORPHA:2237
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth OMIM:614209
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, Metaphyseal dys... ORPHA:1328
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs due to mult... OMIM:259420
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Hypoplasia... OMIM:613390
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization, Finger clinodactyly ORPHA:3352
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Pigmentary retinopathy, Urinary incontinence, Recur... OMIM:609033
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Floating-Harbor Syndrome
Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Dislocated radial head... ORPHA:2044
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:264700
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Abnormal dental enamel morphology, Microgna... ORPHA:2323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:277440
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom... ORPHA:324964
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Hypocalcemic se... OMIM:241410
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Micrognathia, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Deviation of finger, Joint stiffness, Inguinal hernia, Arachnodactyly, Congenital ... ORPHA:1154
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Micropenis, Ulnar deviation of the... OMIM:614175
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Micrognathia, Inguinal hernia, Retinal degeneration, Renal cyst, Metaphyseal ch... ORPHA:166035
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Distal Deletion 17Q
Optic atrophy, Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies... ORPHA:1597
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Pes cavus, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiol... OMIM:610743
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short distal phalanx of finger, Punctate vertebral calcifications, Epiphyseal stip... ORPHA:1914
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro... OMIM:236700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Abnormal hand morphology, O... ORPHA:371428
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... ORPHA:2970
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Hypoautofluorescent retinal lesion, Horseshoe kidney, Micrognathi... OMIM:250410
Orofaciodigital Syndrome I
Microretrognathia, Clinodactyly, Radial deviation of finger, Hepatic cysts, Ovarian cyst, Polydac... OMIM:311200
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, 2... ORPHA:1692
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Retinal pigment epithelial mottling, Decreased amplitude of sensory ac... OMIM:618733
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Ankle ... OMIM:615398
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Kyphosis, Tracheomalacia, 11 pairs of ribs, Mi... ORPHA:140
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas... ORPHA:289157
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Pes cavus, Multiple joint contractures, Decreased number of peripheral myelinated ... ORPHA:320406
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Postaxial polydactyly, Renal cyst, Rod-cone dystrophy, Hypospadias, Synda... OMIM:605231
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Chronic kidney disease, Pheochromocytoma, Retinal astrocytic hama... ORPHA:805
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction, Renal insufficiency, Diffuse mesangial sclerosis,... OMIM:249660
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Ro... OMIM:266920
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Pes cavus, Scoliosis, Kyphosis ORPHA:99014
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Unilateral renal agenesis, Hyperphosphatemia, Spinal canal stenosis, Calvarial hyp... OMIM:101800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, ... OMIM:231070
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, T... ORPHA:313892
Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia, Talipes, Osteopetrosis, Metat... ORPHA:35107
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Trisomy 13
Optic atrophy, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of the ureter, D... ORPHA:3378
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Rod-cone dystrophy OMIM:601539
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Schindler Disease, Type I
Optic atrophy, Osteopenia, Increased urinary O-linked sialopeptides OMIM:609241
Ogden Syndrome
Congenital hip dislocation, Microretrognathia, Sandal gap, Broad hallux, Umbilical hernia, Microg... OMIM:300855
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Bowing of the long bones, Multiple re... ORPHA:1318
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H... OMIM:108720
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ... OMIM:208540
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Tracheomalacia, Finger syndactyly, Umbi... ORPHA:1001
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Multiple small medullary renal cysts, Osteomal... OMIM:600740
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia ORPHA:1237
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Splenomegaly OMIM:607765
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Sclerosteosis 1
Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondar... OMIM:269500
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Optic nerve compression, Distal renal tubular acidosis, Osteopetrosis, Diap... OMIM:259730
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Optic atrophy, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodi... OMIM:230600
Microcephalic osteodysplastic primordial dwarfism, type III
Optic atrophy, Ulnar deviation of finger, Slender long bone, Chorioretinal coloboma, Hypoplasia o... OMIM:210730
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Generalized lipodystrophy, Micrognathia, In... ORPHA:79474
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Flared metaphysis, Facial hyperostosis, Club-shaped distal femur, Patchy sclerosis... OMIM:218400
Osteopenia, Macular degeneration, Umbilical hernia, Absence of subcutaneous fat, Multiple joint c... ORPHA:33364
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Short neck, Abnormal metacarpal morphology, Absent radius, Hypospadia... OMIM:268300
Williams Syndrome
Synostosis of joints, Micrognathia, Genu valgum, Polycystic ovaries, Radioulnar synostosis, Pes p... ORPHA:904
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ectopic kidney, Hip dislo... OMIM:146510
Cornelia De Lange Syndrome 1
Micrognathia, Congenital diaphragmatic hernia, Short neck, Dislocated radial head, Ectopic kidney... OMIM:122470
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... OMIM:605282
Kaposiform Lymphangiomatosis
Fractures of the long bones, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, A... ORPHA:464329
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst, Epiphyseal stippling OMIM:614862
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Congenit... ORPHA:2092
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal... ORPHA:887
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathi... ORPHA:3301
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Osteopenia, Contractures of the large joints, Micrognathia, Elevated circulating c... ORPHA:329178
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, H... OMIM:619980
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Scoliosis, Horseshoe kidney, Pyelone... OMIM:301111
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Twelfth rib hypoplasia, Micrognathia, Abnormal optic disc morphology, Subretinal deposits, Hyposp... ORPHA:397715
Fibrochondrogenesis 1
Hypoplastic ischia, Platyspondyly, Joint contracture of the hand, Small hand, Hypoplastic scapula... OMIM:228520
Genitopalatocardiac Syndrome
Renal cyst, Micrognathia, Hypospadias OMIM:231060
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Marshall-Smith Syndrome
Optic atrophy, Slender long bone, Increased susceptibility to fractures, Joint hypermobility, Bow... ORPHA:561
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Renal insufficiency, Abnormal metaphysis morphology... ORPHA:35687
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... OMIM:164900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Abnormal optic disc morpholog... ORPHA:508498
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Micrognathia, 2-3 toe syndactyly, Abnormal optic disc morphology, Micr... OMIM:617516
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Optic atrophy, Slender long bone, Joint hypermobility, Spina bifida occulta, Red... ORPHA:1185
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Joint hypermobility, Hip dysplasia, Clino... ORPHA:3375
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Abnormal form of the vertebral bodies, ... ORPHA:3015
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Kyphosis, Vitreoretinopathy, Pathologic fracture, Vertebral compressio... OMIM:259770
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Postaxial foot pol... OMIM:211750
Harrod Syndrome
Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Abnormal shoulder morpholog... ORPHA:2115
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Multiple lipomas, Renal cell carcinoma OMIM:135150
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Proximal tubulopathy, Hypocholesterolemia, Abnormal subcutaneous fat... OMIM:212065
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... OMIM:143095
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Joint hypermobility, Hydronephrosis, Pes... OMIM:620511
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Gaucher Disease
Osteopenia, Abnormal macular morphology, Cherry red spot of the macula, Osteolysis, Osteomyelitis... ORPHA:355
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Overlapping toe, Limb joint contracture, Scoliosis, Hypospadias, Renal dysplasia, ... OMIM:300004
Caroli Disease
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia ORPHA:53035
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Short 5th finger, Short distal ... OMIM:220500
Hyperostosis Cranialis Interna
Optic atrophy, Hyperostosis cranialis interna, Calvarial hyperostosis, Facial palsy, Osteoscleros... OMIM:144755
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Unilateral renal agenesis, Scoliosis, Short toe, Hydronephrosis, Renal... ORPHA:464311
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentration, Renal cyst, Conj... ORPHA:79303
Hajdu-Cheney Syndrome
Micrognathia, Decreased skull ossification, Hernia, Absent frontal sinuses, Bowing of the long bo... ORPHA:955
Rickets ORPHA:213
Joint contracture of the hand, Rhizomelia, Abnormal circulating cholesterol concentration, Microg... OMIM:602398
Thrombocytopenia-Absent Radius Syndrome
Short forear