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Gene: Plekhm1 MGI:2443207

Gene Summary

Name:

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

Synonyms:

AP162, B2, D330036J23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.06×10^-15
polycystic kidney	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal optic disk morphology	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.88×10^-06
decreased prepulse inhibition	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.91×10^-16
increased bone mineral density	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.07×10^-16
decreased total body fat amount	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.29×10^-14
abnormal vertebrae morphology	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.58×10^-05
short tibia	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.34×10^-12
increased circulating alanine transaminase level	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.83×10^-07
increased bone mineral content	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.08×10^-10

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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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Eye Morphology

Images Slit Lamp

1 Images

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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.

Human diseases associated with Plekhm1 (3 diseases)
Human diseases predicted to be associated with Plekhm1 (694 diseases)

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

Disease	Matching phenotypes	Source
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Optic atrophy from cranial nerve compression, Abnormalit...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Anemia, Recurrent fractures	OMIM:618107

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

Disease	Matching phenotypes	Source
Mueller-Weiss Syndrome	Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the...	ORPHA:566943
Buschke-Ollendorff Syndrome	Osteopoikilosis, Scoliosis, Lower limb asymmetry, Joint stiffness, Flexion contracture, Connectiv...	OMIM:166700
Osteomesopyknosis	Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Metaphyseal dysplasia, Dense metaphyseal ba...	OMIM:615198
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str...	ORPHA:564003
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Isolated Osteopoikilosis	Abnormality of the kidney, Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic fo...	ORPHA:166119
Sclerosteosis	Optic atrophy, Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hypero...	ORPHA:3152
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre...	ORPHA:85188
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Femoral-Facial Syndrome	Abnormal fibula morphology, Renal hypoplasia/aplasia, Inguinal hernia, Long penis, Polycystic kid...	ORPHA:1988
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost...	OMIM:112910
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Multiple lipomas, Abnormal cortical bon...	ORPHA:1879
Osteomesopyknosis	Low back pain, Increased bone mineral density	OMIM:166450
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	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	Sandwich appearance of vertebral bodies, Optic atrophy from cranial nerve compression, Abnormalit...	ORPHA:210110
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Facial palsy...	ORPHA:3416
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Optic atrophy, Facial palsy	ORPHA:178377
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Flynn-Aird Syndrome	Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Rod-cone dystrophy...	OMIM:136300
Liberfarb Syndrome	Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,...	OMIM:618889
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Pes cavus, Claw hand deformity, Hammertoe, Optic disc pallor	OMIM:618511
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio...	OMIM:239100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density...	ORPHA:163649
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Meckel Syndrome 13	Retinopathy, Polycystic kidney dysplasia, Micrognathia, Flexion contracture	OMIM:617562
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull...	OMIM:617610
Ribose 5-Phosphate Isomerase Deficiency	Increased level of xylitol in urine, Optic atrophy, Decreased level of erythritol in urine, Incre...	OMIM:608611
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d...	ORPHA:90650
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Epip...	OMIM:614859
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, 2-3 toe synda...	OMIM:617866
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Dysosteosclerosis	Optic atrophy, Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral ...	ORPHA:1782
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros...	OMIM:122860
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increased bone mineral density, Cort...	OMIM:620366
Bardet-Biedl Syndrome 10	Polydactyly, Retinal dystrophy, Renal insufficiency, Renal cyst, Rod-cone dystrophy	OMIM:615987
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo...	ORPHA:628
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Facial palsy...	OMIM:166600
Eiken Syndrome	Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Incr...	OMIM:239000
Nephronophthisis 14	Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis	OMIM:614844
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos...	ORPHA:2114
Bent Bone Dysplasia Syndrome 2	Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic i...	OMIM:620076
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormality ...	ORPHA:2204
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Short...	OMIM:263210
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Slc35A2-Cdg	Transient nephrotic syndrome, Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes...	ORPHA:356961
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Osteopetrosis, Increased bone mineral density, Facial palsy, Optic disc pallor, Re...	OMIM:611490
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid...	OMIM:613091
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Sandwich appearance of ve...	OMIM:259700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Pes cavus, Talipes equinovarus, Peripheral axonal neuropathy, Scoliosis, Kyphosis,...	OMIM:617087
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me...	OMIM:614856
Albers-Schönberg Osteopetrosis	Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Gener...	ORPHA:53
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Melorheostosis	Increased bone mineral density, Hyperostosis, Arthritis, Lower limb asymmetry, Ectopic ossificati...	ORPHA:2485
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Abnormal pelvic gir...	OMIM:607634
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Optic atr...	OMIM:224300
Autosomal Recessive Hypophosphatemic Rickets	Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Renal hypophosphatemia, Genu var...	ORPHA:289176
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Orofaciodigital Syndrome Type 10	Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh...	ORPHA:2756
Meckel Syndrome, Type 8	Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Short neck, Ta...	OMIM:613885
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Kyphosis, Short neck, Lipodystrophy, Hypoalbuminemia, Hypocholestero...	OMIM:608776
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Brachydactyly, Short distal phalanx of finger, Joint hypermobility	ORPHA:2787
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma...	ORPHA:3344
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u...	OMIM:200980
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Bardet-Biedl Syndrome 16	Polydactyly, Renal cyst, Renal agenesis, Retinal degeneration, Renal dysplasia, Rod-cone dystroph...	OMIM:615993
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Mi...	OMIM:215045
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Rhyns Syndrome	Osteopenia, Nephronophthisis, Abnormal long bone morphology, Multicystic kidney dysplasia, Small ...	ORPHA:140976
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Nephronophthisis 20	Nephronophthisis, Scoliosis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, R...	OMIM:617271
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Umbilic...	OMIM:102500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short ribs, Short long bone, Flat acetabul...	OMIM:614091
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac...	OMIM:146300
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Scoliosis, Kyphosis, Camptodactyly, Arach...	ORPHA:314588
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Narrow greater sciatic notch, Rhizomelia, Scoliosis, Coxa vara, Cone/cone-rod dyst...	OMIM:602271
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, J...	ORPHA:1106
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Pes cavus, Decreased sensory nerve conduction velocity, Hammertoe, Scoliosis, Decr...	OMIM:609260
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Abnormal autonomic nervous system ph...	OMIM:601559
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract infections, P...	OMIM:613095
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Long toe, Elevated circulating creatinine ...	OMIM:608836
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets	OMIM:193100
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Retinitis Pigmentosa 71	Optic disc drusen, Scoliosis, Attenuation of retinal blood vessels, Perifoveal ring of hyperautof...	OMIM:616394
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Lamb-Shaffer Syndrome	Optic atrophy, Scoliosis, Vertebral clefting, Long fingers, Long hallux, Overlapping toe, Pes pla...	OMIM:616803
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture	ORPHA:320396
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c...	OMIM:618061
Trisomy 17P	Talipes, Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia, Scolio...	ORPHA:261290
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly, Retinal degenerati...	OMIM:615982
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Talipes equinovarus, Polycystic kidney dysplasia, Elevated circulating lon...	OMIM:214110
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia,...	OMIM:607143
Hypophosphatemic Rickets, X-Linked Recessive	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300554
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume...	ORPHA:56305
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Epidermal Nevus Syndrome	Osteopenia, Lipoma, Polycystic kidney dysplasia, Thoracolumbar scoliosis, Spinal canal stenosis	ORPHA:35125
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Pseudohypoparathyroidism Type 1B	Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Diaphyseal sclerosi...	ORPHA:94089
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Tibial bowing, Fe...	ORPHA:93356
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Decreased circulating carnitine concentration, Polycystic kidney dysplasia, Hy...	ORPHA:26791
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Enamel hypomineralization, Metaphyseal irregular...	OMIM:307800
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Multiple renal cysts, Narrow pelvis ...	ORPHA:66637
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Dent Disease 1	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300009
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Roberts Syndrome	Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Wr...	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	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Camurati-Engelmann Disease	Genu valgum, Optic nerve compression, Diaphyseal sclerosis, Increased bone mineral density, Scoli...	OMIM:131300
15q26 overgrowth syndrome	Abnormality of the kidney, Craniosynostosis, Polycystic kidney dysplasia, Scoliosis, Vesicoureter...	DECIPHER:81
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H...	ORPHA:157
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Mes...	ORPHA:763
Microcephaly-Micromelia Syndrome	Craniosynostosis, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synos...	OMIM:251230
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Join...	ORPHA:93352
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp...	OMIM:112350
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Absent vertebra, Syndacty...	OMIM:134780
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu...	OMIM:602111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Increased circulating thyroglobulin concentration, Polycystic kidney dysplasia, Renal...	OMIM:610199
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu...	ORPHA:93160
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat...	OMIM:614866
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent ...	OMIM:259710
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Papillorenal Syndrome	Joint hypermobility, Elevated circulating creatinine concentration, Stage 5 chronic kidney diseas...	OMIM:120330
Meckel Syndrome 14	Talipes, Polycystic kidney dysplasia, Postaxial hand polydactyly, Bowing of the long bones, Decre...	OMIM:619879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Hypocalcemia, Kypho...	OMIM:618476
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Back pain, Renal cyst	OMIM:174050
Joubert Syndrome 18	Kyphoscoliosis, Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydactyly, Tride...	OMIM:614815
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla...	ORPHA:228308
Otopalatodigital Syndrome Type 2	Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Hypospadias, ...	ORPHA:90652
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Epiphyseal stippling	OMIM:614870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip...	OMIM:210710
Hanac Syndrome	Hematuria, Multiple renal cysts, Retinal vascular tortuosity, Renal insufficiency	ORPHA:73229
Hyperoxaluria, Primary, Type I	Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Increase...	OMIM:259900
Orofaciodigital Syndrome Ix	Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Retinal dy...	ORPHA:1190
Verheij Syndrome	Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Short 5th finger, Renal cyst, Renal agenesis, R...	OMIM:615583
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Abnormally ossified vertebrae, Kyphos...	ORPHA:800
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Osteopetrosis, Spina bifida occulta, Increased bone mineral densi...	ORPHA:2780
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones	OMIM:211890
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Po...	OMIM:263520
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Abnormal cranial nerve ...	ORPHA:1522
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena...	OMIM:263200
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ...	ORPHA:93315
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly...	ORPHA:2091
Occipital Horn Syndrome	Large iliac wing, Kyphosis, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility,...	ORPHA:198
Craniodiaphyseal Dysplasia	Optic atrophy, Diaphyseal undertubulation, Craniofacial hyperostosis	ORPHA:1513
Roifman-Chitayat Syndrome	Osteopenia, Optic atrophy, Ectopic kidney, Short metatarsal, Arthritis, Short metacarpal, Umbilic...	OMIM:613328
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Hyperuricemia, Bowing of the long bones, Osteoporosis, Coars...	ORPHA:2801
Kniest Dysplasia	Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Umbilical he...	OMIM:156550
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly	OMIM:615085
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Vertebra...	ORPHA:1166
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Bardet-Biedl Syndrome 17	Polydactyly, Polyuria, Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Postaxial ...	OMIM:615994
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Joint hy...	ORPHA:2658
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Renal Coloboma Syndrome	Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren...	ORPHA:1475
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst, R...	OMIM:611773
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Lumbosacral meningocele, Hammertoe, Talipes eq...	OMIM:608022
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Abnormally ossified vertebrae, Short metacarpal, Dumbbell-shaped femur...	ORPHA:1427
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Retinal dystrophy, Scoliosis, Postaxial hand polydactyly, Renal cy...	OMIM:611560
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Arima Syndrome	Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointerstitial fibro...	OMIM:243910
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalc...	ORPHA:79444
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Sacral dimple, Clinodactyly of the 5th finger, Polycystic kidney dyspl...	OMIM:606232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wast...	OMIM:241530
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Aplasia/hypoplasia of the humerus, Absent radius, Adducted thumb, Patellar dislocati...	ORPHA:3320
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat...	OMIM:614500
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Flared metap...	OMIM:123000
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul...	OMIM:602080
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Synovitis, Microscopic hematuria, Proteinuria, Fl...	ORPHA:77297
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Increased bone mineral density, Absent frontal sinuses, Scolios...	OMIM:265800
Sillence Syndrome	Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Isolated Polycystic Liver Disease	Increased total bilirubin, Back pain, Multiple renal cysts	ORPHA:2924
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Pes cavus, Sensory axonal neuropathy, Scoliosis, Kyphosis, Absent Achilles reflex,...	OMIM:609541
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Hypocalcemia, ...	OMIM:127000
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Reduced bone mineral density, Macular exudate, Retinal neovascularization...	ORPHA:891
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Calcium nephrolithiasis, Hyp...	ORPHA:36913
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Renal cyst, Arthrogryposis multiplex congenit...	OMIM:236500
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Short metacarpal, Tarsal synostosis, Inguinal hernia, Bowed humerus, Scoliosis, Ab...	OMIM:272460
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Scoliosis, Elevated circulating creatine kinase concentration, Congenital contract...	OMIM:615042
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Polycystic kidney dysplasia, Short ribs, R...	OMIM:616546
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand...	OMIM:108721
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture	OMIM:179800
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu...	OMIM:201000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Pes cavus, Coxa valga, Coronal craniosynostosis	OMIM:616943
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Short metacarpal, Short 4th metacarpal, Hypocalcemia, Increased bon...	ORPHA:79443
Primary Hyperoxaluria	Optic atrophy, Hematuria, Aciduria, Choroidal neovascularization, Calcium oxalate nephrolithiasis...	ORPHA:416
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh...	OMIM:608940
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies,...	ORPHA:1834
Werner Syndrome	Rocker bottom foot, Lipoatrophy, Renal neoplasm, Increased bone mineral density, Osteoporosis, Jo...	ORPHA:902
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Anemia, Decreased circulating IgG level, Abnormal trabecular bone ...	OMIM:612301
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal vertebral morphology, Abnormal femur morphology, Abnormal fo...	ORPHA:352540
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Hip subluxation, Flared metaphysis, Hypocalce...	OMIM:259720
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Multiple renal cysts, Joint hypermobility, Renotubular dysgenesis	ORPHA:3033
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia...	ORPHA:96334
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Splenomegaly	OMIM:211600
Joubert Syndrome 20	Retinopathy, Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short finger, Small epiphyses, Thoracic kyphosis, Flared iliac wing, Coxa vara, M...	OMIM:300232
Osteogenesis Imperfecta, Type Viii	Osteopenia, Vertebral compression fracture, Slender long bone, Femoral retroversion, Inguinal her...	OMIM:610915
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets	ORPHA:157215
Joubert Syndrome 39	Postaxial polydactyly, Polycystic kidney dysplasia, Retinal dystrophy, Joint contracture of the 5...	OMIM:619562
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Joubert Syndrome 16	Polydactyly, Retinal dystrophy, Nephronophthisis, Renal cyst	OMIM:614465
Marinesco-Sjögren Syndrome	Optic atrophy, Abnormal metacarpal morphology, Scoliosis, Abnormal finger morphology, Short palm,...	ORPHA:559
Distal Deletion 12Q	Kyphoscoliosis, Long foot, Clinodactyly of the 5th finger, Ectopic kidney, Polycystic kidney dysp...	ORPHA:96149
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Renal hypoplasia/aplasia, ...	ORPHA:958
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short ribs, S...	ORPHA:50945
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis	OMIM:612840
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm...	ORPHA:363417
Meckel Syndrome, Type 1	Radial deviation of finger, Talipes, Polycystic kidney dysplasia, Postaxial hand polydactyly, Bow...	OMIM:249000
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Inguinal her...	OMIM:613848
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Poems Syndrome	Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Sclerosis of foot bone, Papil...	ORPHA:2905
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Bowing of the long bon...	OMIM:259775
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Short ribs, Short metacar...	ORPHA:3404
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Ectopic kidney, Osteopoikilosis, Scoliosis, Renal hypoplasia, Mic...	ORPHA:94063
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Arachnodactyly, Multiple renal cysts, Umbilical hernia, Joint h...	ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Say Syndrome	Tapered finger, Micrognathia, Proximal renal tubular acidosis, Short distal phalanx of finger, Ul...	OMIM:181180
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Osteogenesis Imperfecta, Type Iii	Slender long bone, Scoliosis, Tibial bowing, Kyphosis, Biconcave vertebral bodies, Decreased calv...	OMIM:259420
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Fibular bowing, Generalized aminoaciduria, Delayed epiphyseal oss...	OMIM:264700
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Camurati-Engelmann Disease	Abnormal femur morphology, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Coxa valga, Opti...	ORPHA:1328
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Spin...	ORPHA:2323
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Hydronephrosis, Absent thumb, ...	OMIM:613390
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Finger clinodactyly, Enamel hypomineralization	ORPHA:3352
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Abnormal vertebral morphology, Elevated circulating C-reactive pr...	ORPHA:324964
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Ankle flexion contracture, Upper limb undergrowth, Elevated circulating creatine k...	OMIM:608799
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Floating-Harbor Syndrome	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenital posterior ...	ORPHA:2044
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Micrognathia, Hyperphosph...	OMIM:241410
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Micrognathia, Clinodactyly of the 5th finger	OMIM:617306
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy, Inguinal hernia, Congenital finger flexion contractures, Bilateral talipes equinov...	ORPHA:1154
Meckel Syndrome, Type 10	Sacral dimple, Hypospadias, Postaxial hand polydactyly, Renal cyst, Camptodactyly, Postaxial poly...	OMIM:614175
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Finger synda...	ORPHA:1788
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Pes planus, Inguinal hernia, Hallux valgus, Short metacarpal, Renal cyst, Micrognathia, Brachydac...	ORPHA:166035
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Radioulnar synostosis	ORPHA:3270
Distal Deletion 17Q	Optic atrophy, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal hip bone morph...	ORPHA:1597
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Pes cavus, Peripheral axonal neuropathy, Scoliosis, Abnormal autonomic nervous sys...	OMIM:610743
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Optic disc pallor	OMIM:619446
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Epiphyseal stippling, Punctate vertebral calcifications, Brachydactyly, Short dist...	ORPHA:1914
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Calf ...	OMIM:618733
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Postaxial...	OMIM:236700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ...	ORPHA:371428
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Polycystic kidney dysplasia, Short 2nd toe, Enamel hypop...	OMIM:311200
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Retinal degeneration, Micrognathia, Metaphyseal dysplasia, Brachyda...	OMIM:250410
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Long toe, Dev...	ORPHA:1692
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,...	OMIM:164745
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo...	ORPHA:140
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, A...	ORPHA:959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Sco...	OMIM:615398
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Leukocytosis, Splenomegaly, Sparse bone trabeculae, Ost...	ORPHA:289157
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Pes cavus, Peripheral axonal neuropathy, Scoliosis, Decreased number of peripheral...	ORPHA:320406
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst, Postaxial polydactyly, Syndactyly, Rod-cone dystrophy, Pigmentary retino...	OMIM:605231
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, 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	Retinal hamartoma, Abnormality of the kidney, Pancreatic endocrine tumor, Polycystic kidney dyspl...	ORPHA:805
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ...	OMIM:249660
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Short metatarsal, Epiphyseal stippling, Cone-shaped epi...	OMIM:101800
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Osteoporosis, Joint stiffness, Osteomalacia, Joint hypermobility	ORPHA:1901
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Pes cavus, Abnormal nerve conduction velocity, Scoliosis, Kyphosis	ORPHA:99014
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext...	OMIM:231070
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Rod-cone dystrophy	OMIM:601539
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumba...	ORPHA:313892
Desmosterolosis	Osteopetrosis, Renal hypoplasia/aplasia, Talipes, Increased bone mineral density, Micromelia, Ren...	ORPHA:35107
Trisomy 13	Optic atrophy, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Kyp...	ORPHA:3378
Orofaciodigital Syndrome Type 2	Central retinal vessel vascular tortuosity, Finger clinodactyly, Cone-shaped epiphyses of the pha...	ORPHA:2751
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Ogden Syndrome	Enlarged kidney, Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Polycystic kidney d...	OMIM:300855
Schindler Disease, Type I	Osteopenia, Optic atrophy, Increased urinary O-linked sialopeptides	OMIM:609241
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia...	ORPHA:1318
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Recurrent fract...	ORPHA:2176
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets	OMIM:612089
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Ureteral atresia, Renal dysplasia...	OMIM:208540
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Joint hypermobility, Tracheomala...	ORPHA:1001
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	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Sclerosteosis 1	Optic atrophy, Facial palsy, Abnormal pelvic girdle bone morphology, Deviation of finger, Papille...	OMIM:269500
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, Sacral dimple, 2-3 toe cutaneous syndactyly, Pes valgu...	OMIM:206920
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Optic nerve compression, Diaphyseal sclerosis, Distal renal ...	OMIM:259730
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies	ORPHA:2289
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Optic atrophy, Platyspondyly, Scoliosis, Joint stiffness, Hypoplasti...	OMIM:230600
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co...	OMIM:619902
Atypical Werner Syndrome	Hypertriglyceridemia, Rocker bottom foot, Lipoatrophy, Reduced bone mineral density, Calf muscle ...	ORPHA:79474
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Optic atrophy, Talipes, Hypospadias, Clinodactyly of the 5th finger, Cone-shaped ...	OMIM:210730
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Midline cen...	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 palsy, Club-shaped distal femur, Facial hyperostosis, Me...	OMIM:218400
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Macular degeneration, Thoracic kyphosis, Clubbing, Ab...	ORPHA:33364
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A...	OMIM:268300
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Abnormal form of the vertebral bod...	ORPHA:904
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Renal cyst, Epiphyseal stippling	OMIM:614862
Pallister-Hall Syndrome	Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Proximal placement of thumb, Dislocated radial h...	OMIM:122470
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyl...	OMIM:605282
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Abnormal form of the ver...	ORPHA:464329
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Optic atrophy, Scoliosis, Elevated circulating creatine kinase concentration, Microgn...	ORPHA:329178
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Short ribs, Hypoplastic pelvis, Split ...	ORPHA:2092
Vacterl/Vater Association	Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal inter...	ORPHA:887
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Abnormally ossified vertebrae, Septo-optic dysplasia, Aplasia/Hypoplasia involving...	ORPHA:3301
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease...	ORPHA:18
Fibrochondrogenesis 1	Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin...	OMIM:228520
Braddock-Carey Syndrome 1	Hyperlordosis, Camptodactyly, Enamel hypoplasia, Multicystic kidney dysplasia, Clinodactyly, Tali...	OMIM:619980
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral ...	OMIM:301111
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Short ribs, Abnormal optic disc morphology, Abnormal 5th metacarpal mo...	ORPHA:397715
Genitopalatocardiac Syndrome	Micrognathia, Hypospadias, Renal cyst	OMIM:231060
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Splenomegaly	OMIM:618541
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Marshall-Smith Syndrome	Optic atrophy, Reduced bone mineral density, Slender long bone, Scoliosis, Bowing of the long bon...	ORPHA:561
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ...	ORPHA:731
Erdheim-Chester Disease	Abnormal metaphysis morphology, Increased bone mineral density, Dysuria, Hydronephrosis, Osteomye...	ORPHA:35687
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia	ORPHA:3032
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Abnormal optic disc morphology, Broad thumb, Short 5th finger, Overlappin...	ORPHA:508498
Stankiewicz-Isidor Syndrome	Sacral dimple, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Abnormal optic disc morphol...	OMIM:617516
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Genu recurv...	ORPHA:1185
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Trisomy X	Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Hip dysplasia, Joint hypermobility, Mul...	ORPHA:3375
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Retinal calcific...	OMIM:259770
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Radio-Renal Syndrome	Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Microm...	ORPHA:3015
C Syndrome	Radial deviation of finger, Renal cortical cysts, Dislocated radial head, Scoliosis, Postaxial ha...	OMIM:211750
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Proximal tubulopathy, Kyphosis, Renal ...	OMIM:212065
Harrod Syndrome	Abnormal shoulder morphology, Hypospadias, Scoliosis, Abnormal pelvic girdle bone morphology, Kyp...	ORPHA:2115
Gaucher Disease	Osteopenia, Decreased HDL cholesterol concentration, Hematuria, Elevated circulating C-reactive p...	ORPHA:355
Birt-Hogg-Dube Syndrome 1	Multiple lipomas, Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat...	OMIM:143095
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac...	OMIM:114290
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Dent Disease	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	ORPHA:1652
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hallux valgus, Scoliosis, Kyphosis, Hydronephrosis, Joint hypermobilit...	OMIM:620511
Caroli Disease	Polycystic kidney dysplasia, Conjugated hyperbilirubinemia	ORPHA:53035
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Optic atrophy, Hypospadias, Scoliosis, Limb joint contracture, Renal dysplasia, Overlapping toe, ...	OMIM:300004
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Dark urine, Conj...	ORPHA:79303
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Birk-Landau-Perez Syndrome	Hyperkalemia, Optic atrophy, Stage 3 chronic kidney disease, Renal hypoplasia, Camptocormia, Hype...	OMIM:617595
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Renal agenesis, Increased uri...	OMIM:220500
Desmosterolosis	Elevated circulating desmosterol concentration, Rhizomelia, Abnormal circulating cholesterol conc...	OMIM:602398
Hyperostosis Cranialis Interna	Optic atrophy, Calvarial hyperostosis, Facial palsy, Hyperostosis cranialis interna, Osteoscleros...	OMIM:144755
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst, Stage 5 chro...	OMIM:216360
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma, Absent tibia	ORPHA:1757
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Retinal detachment, Pelvic kid...	ORPHA:464311
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Fibrous Dysplasia Of Bone	Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Osteolysis, Osteoma...	ORPHA:249
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Multi...	ORPHA:955
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasi...	OMIM:274000
Cystinosis	Rickets	ORPHA:213
Wildervanck Syndrome	Facial palsy, Short neck, Fused cervical vertebrae, Pseudopapilledema	ORPHA:3456
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Sandal gap, Inguinal hernia, Optic nerve hypoplasia, Scoliosis, Facial palsy, Kyph...	ORPHA:261349
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Arach...	ORPHA:2461
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Syndromic Diarrhea	Polycystic kidney dysplasia, Abnormality of iron homeostasis, Renal hypoplasia, Inguinal hernia	ORPHA:84064
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Glomerulopathy, Sandal gap, Scoliosis, Abnormality of retinal pigmentation, Protei...	ORPHA:2715
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Cystic Echinococcosis	Abnormality of the vertebral column, Hyperbilirubinemia, Bone cyst, Renal cyst, Ovarian cyst, Hep...	ORPHA:400
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Talipes valgus, Clinodactyly of the 5th finger, Hypospadias, Joint hypermobility, Clu...	OMIM:620083
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Clubbing, Focal segmental glomerulosclerosis, Flared iliac wing, ...	OMIM:617303
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In...	OMIM:618454
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Congenit...	OMIM:617913
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Osteopetrosis, Renal tubular acidosis, Hypocalcemia, Abnormal retinal morphology, ...	ORPHA:2785
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Sandwich appearance of vertebral bodies, Increased bone mineral density, Flared metaphysis, Coars...	OMIM:620558
Distal Deletion 13Q	Optic atrophy, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Aplasia/Hypoplasia of th...	ORPHA:1590
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Hydronephrosis,...	OMIM:618161
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Rocker bottom foot, Limitation of knee mobility, Umbilical hernia, Adducted thumb...	OMIM:618947
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Congenital megaureter, Slender long bone, Hypercalciuria, Upper...	ORPHA:369837
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypospadias, Acromesomeli...	ORPHA:464306
Celiac Disease, Susceptibility To, 1	Rickets, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Osteoporosis, Decreased circu...	OMIM:212750
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Retinal detachment, Finger syndactyly, Scoliosis, Abnormality of th...	ORPHA:1556
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hypospadias, Scoliosis, Postaxial hand polydactyly, Kyphosis, Mi...	ORPHA:2075
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Long toe, Upper limb undergrowth, Recurrent urinary tract infections, ...	OMIM:614527
Polysyndactyly With Cardiac Malformation	Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cysts	OMIM:263630
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Hypoplasia of penis, Scoliosis, Hemivertebrae, Limitati...	ORPHA:99776
Caroli Syndrome	Abnormality of the kidney, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Polycystic kidney d...	ORPHA:480520
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pes cavus, Lipoma, Scoliosis, Pigmentary retinopathy, Micrognathia, Mildly elevated creatine kina...	ORPHA:502423
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Mesomelia-Synostoses Syndrome	Narrow foot, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal, Metacar...	OMIM:600383
Meckel Syndrome, Type 2	Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Omphalocele	OMIM:603194
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho...	OMIM:304120
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Joint hype...	OMIM:218330
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Enlarged kidney, Long foot, Spina bifida occulta, Inguinal hernia, Tib...	ORPHA:500095
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ...	ORPHA:3144
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micr...	ORPHA:261197
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Wide distal femoral metaphysis, Short 1st metacarpal, Tibial bowing, Po...	OMIM:269150
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Flat ace...	OMIM:211350
Xfe Progeroid Syndrome	Optic atrophy, Pes cavus, Scoliosis, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous...	OMIM:610965
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst	OMIM:611561
Mccune-Albright Syndrome	Aneurysmal bone cyst, Pancytopenia, Polyostotic fibrous dysplasia, Bone marrow hypocellularity, M...	ORPHA:562
Zika Virus Disease	Ankle swelling, Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Abnormal optic disc morp...	ORPHA:448237
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Genitopatellar Syndrome	Knee flexion contracture, Hypoplastic ilia, Hypoplastic ischia, Short palm, Micrognathia, Hydrone...	ORPHA:85201
Fanconi-Bickel Syndrome	Rickets, Osteopenia	ORPHA:2088
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Scoliosis, Vesicoureteral reflux, Corneal scarring, Renal cy...	OMIM:618460
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys...	OMIM:137920
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcino...	ORPHA:99880
Mody	Abnormality of the kidney, Abnormal circulating C-peptide concentration, Renal cyst, Retinopathy,...	ORPHA:552
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Generalized aminoaciduria, Hypotriglyceridemia, Joint hypermobility...	ORPHA:404454
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Increased intervertebral space, Opt...	OMIM:619727
Amish Lethal Microcephaly	Optic atrophy, Organic aciduria, Decreased skull ossification, Osteoporosis, Limitation of joint ...	ORPHA:99742
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Anemia, Abnormal trabecul...	ORPHA:2909
Trisomy 1Q	Congenital diaphragmatic hernia, Long foot, Congenital megaureter, Omphalocele, Arachnodactyly, C...	ORPHA:261344
Autosomal Dominant Hypocalcemia	Optic atrophy, Reduced bone mineral density, Fatigable weakness, Hypercalciuria, Hypocalcemia, Hy...	ORPHA:428
Joubert Syndrome 1	Retinal dysplasia, Retinal dystrophy, Postaxial hand polydactyly, Renal cyst, Postaxial foot poly...	OMIM:213300
Parathyroid Carcinoma	Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcino...	ORPHA:143
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Aicardi-Goutieres Syndrome 9	Optic atrophy, Glomerular sclerosis, Recurrent urinary tract infections, Scoliosis, Chorioretinal...	OMIM:619487
Kleefstra Syndrome	Hypospadias, Hypoplasia of penis, Tracheomalacia, Scoliosis, Vesicoureteral reflux, Limitation of...	ORPHA:261494
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Anemia, Recurrent fractures	OMIM:618107
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Proximal tubulopathy, Renal cyst	OMIM:602579
Zellweger Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Hypospadias, Epiphyseal stippling, Micrognathia...	ORPHA:912
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Umbilical hernia, Clinodactyly, Optic atrophy, Cranial hyp...	ORPHA:2710
Bardet-Biedl Syndrome 12	Polydactyly, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Postaxial foot polydactyly,...	OMIM:615989
Joubert Syndrome 2	Nephronophthisis, Abnormal foot morphology, Retinal dystrophy, Postaxial hand polydactyly, Renal ...	OMIM:608091
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Umbilical he...	ORPHA:534
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Optic nerve compress...	ORPHA:667
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morph...	ORPHA:2879
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Ove...	ORPHA:798
Short-Rib Thoracic Dysplasia 12	Short finger, Inguinal hernia, Short long bone, Short ribs, Bowing of the arm, Omphalocele, Renal...	OMIM:269860
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Overlapping toe, Hypocholesterolemia, Talipes calcaneovalgus, Hip di...	OMIM:270400
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasi...	ORPHA:818
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morpholog...	ORPHA:2473
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Chorioretinal coloboma, Renal cyst, Clinodactyly of the 5th finger	ORPHA:2031
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Hypoplasia of penis, Kyphosis, Broad thumb, Mesomelia, ...	ORPHA:1507
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Neu-Laxova Syndrome	Rickets, Osteopenia, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis multiplex co...	ORPHA:2671
Alveolar Echinococcosis	Abnormal vertebral morphology, Bone cyst, Abnormal bladder morphology, Renal cyst, Abnormal pelvi...	ORPHA:284
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Mitten deformity, A...	ORPHA:79404
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Broad thumb, Umbilica...	ORPHA:373
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Optic atrophy, Genu valgum, Retinal telangiectasia, Metaphyseal sclerosis, Scoliosis,...	OMIM:612199
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Fetal megacystis, Arachnodactyly, Short palm, Toe syndactyly, Multicystic kidn...	ORPHA:73246
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Pes cavus, Genu valgum, Abnormal optic disc morphology, Br...	ORPHA:293967
Joubert Syndrome 14	Optic atrophy, Postaxial polydactyly, Renal cyst, Morning glory anomaly	OMIM:614424
Familial Dysautonomia	Optic atrophy, Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Scoliosis, Hyp...	ORPHA:1764
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormal finger morphology, Amelia, Oli...	ORPHA:2538
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Genu valgum, Retinal detachment, Scoliosis, Osteoporosis, Kyphosis, Joint stiffnes...	ORPHA:394
Thauvin-Robinet-Faivre Syndrome	Long foot, Pedal edema, Inguinal hernia, Renal cyst, Retinal coloboma, Long hallux, Large hands, ...	OMIM:617107
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic...	ORPHA:107
Rothmund-Thomson Syndrome Type 2	Osteopenia, Finger symphalangism, Aplastic anemia, Neutropenia, Anemia, Abnormal trabecular bone ...	ORPHA:221016
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, ...	ORPHA:280
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Tibial Hemimelia	Absent tibia	OMIM:275220
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Rothmund-Thomson Syndrome Type 1	Osteopenia, Finger symphalangism, Aplastic anemia, Anemia, Abnormal trabecular bone morphology, L...	ORPHA:221008
Von Hippel-Lindau Disease	Distal lower limb muscle weakness, Elevated urinary catecholamine level, Pancreatic endocrine tum...	ORPHA:892
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Postaxial hand polydactyly, Micromelia, Omphalocele, Short neck, Craniosynostosi...	OMIM:200995
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Gaucher Disease Type 3	Hematuria, Increased bone mineral density, Proteinuria, Osteolysis, Increased susceptibility to f...	ORPHA:77261
Hydrolethalus Syndrome 1	Hypospadias, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phal...	OMIM:236680
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Scoliosis, Postaxial hand pol...	ORPHA:1454
D-Bifunctional Protein Deficiency	Osteopenia, Increased circulating very long-chain fatty acid concentration, Decreased nerve condu...	OMIM:261515
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency	OMIM:614922
Meckel Syndrome, Type 3	Polydactyly, Multicystic kidney dysplasia, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:607361
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Retinal calcification, Decreased skull ossificat...	ORPHA:93325
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre...	ORPHA:1827
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Tarsal synostosis, Clinodactyly of the 5th finger, Multicystic kidn...	ORPHA:2750
Fryns Syndrome	Congenital diaphragmatic hernia, Aganglionic megacolon, Clinodactyly of the 5th finger, Hypospadi...	ORPHA:2059
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia, Arthritis, ...	ORPHA:93111
Kinsship Syndrome	Osteopenia, Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Re...	OMIM:619297
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Nabais Sa-De Vries Syndrome, Type 2	Micrognathia, Multicystic kidney dysplasia, Tapered finger, Clinodactyly of the 5th finger	OMIM:618829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Flexion con...	OMIM:613154
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Pes cavus, Decreased nerve conduction velocity, Abnormal tibia morphol...	ORPHA:909
Cerebrocostomandibular Syndrome	10 pairs of ribs, Ectopic kidney, Clinodactyly of the 5th finger, 11 pairs of ribs, Calcaneal epi...	OMIM:117650
Proteus Syndrome	Macrodactyly, Enlarged kidney, Abnormal form of the vertebral bodies, Lipoma, Abnormal finger mor...	ORPHA:744
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Aganglionic megacolon, Hypospadias, Proximal placement ...	OMIM:229850
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Say-Barber-Miller Syndrome	Optic atrophy, Panniculitis, Patellar hypoplasia, Ankle clonus, Macular degeneration, Scoliosis, ...	ORPHA:3132
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus,...	OMIM:218600
Cranioectodermal Dysplasia 2	Polydactyly, Rhizomelia, Craniosynostosis, Inguinal hernia, Hyperbilirubinemia, Short ribs, Posta...	OMIM:613610
Meckel Syndrome, Type 6	Talipes equinovarus, Aplasia of the bladder, Postaxial hand polydactyly, Renal cyst, Hepatic cyst...	OMIM:612284
Charge Syndrome	Absent tibia, Umbilical hernia, Bifid femur, Absent radius, Hypoplasia of the ulna, Hypocalcemia,...	OMIM:214800
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Robinow Syndrome	Kyphoscoliosis, Fused thoracic vertebrae, Mesomelic arm shortening, Multicystic kidney dysplasia,...	ORPHA:97360
Meckel Syndrome, Type 4	Postaxial hand polydactyly, Bowing of the long bones, Renal cyst	OMIM:611134
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hepatic cysts, Talipes equinovarus	OMIM:615415
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Hypoplasia of peni...	ORPHA:93271
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Retinal detachment, Scoliosis, Missing ribs, Abnormality of r...	ORPHA:50
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Pseudopapilledema, Nephrotic syndrome, Thickened glomerula...	OMIM:146255
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Papilledema, Proteinuria, ...	OMIM:619471
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Renal cyst, Short sternum, Micrognathia, Nephroblastom...	OMIM:257300
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Tapered finger, Renal cyst, Clinodactyly, Microretrognathia, Down-sloping shoulders	OMIM:615560
Alagille Syndrome 1	Hypertriglyceridemia, Hypoplasia of the ulna, Duplicated collecting system, Renal tubular acidosi...	OMIM:118450
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Ureteral duplication, Short ribs, Short m...	OMIM:305600
Retinitis Pigmentosa 74	Polydactyly, Abnormal renal morphology, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinop...	OMIM:616562
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Arthritis, B lymphocytopenia, Decreased proportion of na...	OMIM:619381
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Unilateral renal agenesis, Hypospadias, Craniosyn...	ORPHA:96121
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst	ORPHA:445038
1P36 Deletion Syndrome	Optic atrophy, Abnormality of the kidney, Clinodactyly of the 5th finger, Hypospadias, 11 pairs o...	ORPHA:1606
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Jacobsen Syndrome	Talipes, Inguinal hernia, Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Mi...	ORPHA:2308
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Inguinal hernia, Stage 5 chronic kidney ...	OMIM:267010
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Broad thumb, Urethral valve, Umbilical hernia, Aplasia/Hypoplasia of...	OMIM:107480
Trisomy 10P	Abnormality of the kidney, Abnormal foot morphology, Ulnar deviated club hands, Thumb contracture...	ORPHA:171929
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci...	OMIM:312870
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Joint hypermobility, Thi...	OMIM:613658
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Preaxial hand polydactyly, Atypical scarring of skin, Multicystic...	ORPHA:1297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Clinodactyly of the 5th finger, Hypospadias, Scoliosis, Vesicoureteral reflux, Ren...	OMIM:616975
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Distal Deletion 15Q	Congenital diaphragmatic hernia, Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, General...	ORPHA:1596
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Short ribs, Renal cyst, Retinopathy, Hyperechogenic kidneys	OMIM:615636
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Multiple renal cyst...	ORPHA:857
Transketolase Deficiency	Elevated circulating ribitol concentration, Renal cyst, Increased level of ribose in urine	ORPHA:488618
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Hypertriglyceridemia, Lipoatrophy, Atlantoaxial abnormality, Hypoplastic vertebra...	ORPHA:3455
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
C Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Renal hypoplasia/aplasia, Talipes, Clinodactyly o...	ORPHA:1308
Peutz-Jeghers Syndrome	Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter	ORPHA:2869
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Multiple renal cysts, Umbilical hernia, Abnormal chorioretin...	ORPHA:3310
Orofaciodigital Syndrome Type 4	Renal hypoplasia/aplasia, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, ...	ORPHA:2753
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Genu valgum, Azotemia, Retinal dystrophy, Optic nerve hypoplasia, Renal hypoplasia...	OMIM:619321
Peters Plus Syndrome	Optic atrophy, Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Sacral dimple, Spina ...	ORPHA:709
Wilson Disease	Anemia, Osteoporosis, Thrombocytopenia, Splenomegaly, Osteoarthritis, Osteomalacia, Joint hypermo...	OMIM:277900
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Multiple rena...	ORPHA:110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, 11 pairs of ribs, Retinal dysplasia, Elevated circulating creatine kinase ...	OMIM:615287
Tuberous Sclerosis 1	Renal cell carcinoma, Renal cyst, Achromatic retinal patches, Dental enamel pits, Shagreen patch,...	OMIM:191100
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Ureteral duplication, Talipes, Multicystic kidn...	ORPHA:564
Tuberous Sclerosis 2	Retinal hamartoma, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Achromatic retinal pat...	OMIM:613254
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C...	ORPHA:91500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Pes planus, Talipes equinovarus, Renal cyst	OMIM:617260
Lowe Oculocerebrorenal Syndrome	Rickets, Pathologic fracture, Osteomalacia, Camptodactyly of finger, Joint hypermobility, Joint c...	OMIM:309000
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Hypoplasia of penis, Oligodactyly, ...	ORPHA:199
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Renal neoplasm, Hematuria, Multiple renal cysts, Shagreen patch...	ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis, Osteomalacia	ORPHA:2636
Von Hippel-Lindau Syndrome	Pheochromocytoma, Retinal capillary hemangioma, Renal cell carcinoma, Multiple renal cysts, Epidi...	OMIM:193300
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, Proteinuria, ...	ORPHA:699
Genitopatellar Syndrome	Multicystic kidney dysplasia, Knee flexion contracture, Scoliosis, Inferior pubic ramus hypoplasi...	OMIM:606170
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Omphalocele, Umbilical hernia, Megacystis, Multicystic kidney dysplasia	ORPHA:2241
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Tracheomalacia, Kyphosis, Micrognathia, Multicystic kidney dysplasia	ORPHA:1393
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Branchiooculofacial Syndrome	Clinodactyly of the 5th finger, Hypospadias, Proximal placement of thumb, Hyperlordosis, Facial p...	OMIM:113620
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Congenital megaureter, In...	ORPHA:116
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Bilateral talipes equinovarus,...	ORPHA:49
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Abnormal vertebral morphology, Hip subluxation, Hypospadias, Cervical C2/C3 v...	ORPHA:444077
17Q12 Microdeletion Syndrome	Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:261265
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Splenomegaly	OMIM:219800
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Micrognathia, Nephroblastoma, Multicystic kidney dysplasia, Osteo...	ORPHA:1052
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Renal cyst, Micrognathia, Short neck	ORPHA:495875
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Histiocytoid Cardiomyopathy	Optic atrophy, Polycystic ovaries, Renal cyst	ORPHA:137675
Pagod Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Omphalocele, Multicysti...	ORPHA:991
Pmm2-Cdg	Abnormal renal tubule morphology, Kyphoscoliosis, Osteopenia, Abnormal subcutaneous fat tissue di...	ORPHA:79318
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Umbilical hernia, Edema of the dorsum of feet, H...	OMIM:601803
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Arachnodactyly, Syndactyly, Adducted thumb, Long toe, Aganglionic megacolon...	ORPHA:261537
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Butterfly vertebrae, Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Inguinal hern...	OMIM:308205
Hypomagnesemia 3, Renal	Rickets	OMIM:248250
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Arachnodactyly, Syndactyly, Duplication of renal pelvis, Adducted thumb, Lo...	ORPHA:261552
Mowat-Wilson Syndrome	Urinary incontinence, Syndactyly, Adducted thumb, Long toe, Abnormality of the kidney, Aganglioni...	ORPHA:2152
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical vertebrae, Hypophosphate...	ORPHA:51608
Craniofacial Microsomia 1	Genu valgum, Ectopic kidney, Scoliosis, Vesicoureteral reflux, Hemivertebrae, Vertebral hypoplasi...	OMIM:164210
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Sternum - MPATH pathological process term hyperplasia	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult
Sternum - MPATH pathological process term fibro-osseous lesion	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plekhm1.

No publications found that use IMPC mice or data for Plekhm1.

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MGI Allele	Allele Type	Produced
Plekhm1^{tm40171(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Plekhm1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Plekhm1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Plekhm1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Plekhm1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Plekhm1 MGI:2443207

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Histopathology

X-ray

X-ray

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

Combined SHIRPA and Dysmorphology

Eye Morphology

Human diseases caused by Plekhm1 mutations

Histopathology

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